{ "uniprot_canonical_ac": "P08100-1", "uniprot_ac": "P08100", "uniprot_id": "OPSD_HUMAN", "mass": { "chemical_mass": 38893.0, "monoisotopic_mass": 38893.0 }, "refseq": { "ac": "NP_000530", "name": "rhodopsin", "summary": "The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" }, "gene_names": [ { "name": "RHO", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08100", "id": "P08100" }, { "name": "CSNBAD1; OPN2; RP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530", "id": "NP_000530" }, { "name": "OPN2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08100", "id": "P08100" }, { "name": "RHO", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530", "id": "NP_000530" } ], "protein_names": [ { "name": "Rhodopsin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08100" }, { "name": "Opsin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08100" }, { "name": "opsin 2, rod pigment; opsin-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530", "id": "NP_000530" }, { "name": "rhodopsin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530", "id": "NP_000530" } ], "function": [ { "annotation": "Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" }, { "database": "PubMed", "id": "38070066", "url": "https://glygen.org/publication/PubMed/38070066" } ] }, { "annotation": "Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" }, { "database": "PubMed", "id": "37952496", "url": "https://glygen.org/publication/PubMed/37952496" } ] }, { "annotation": "Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light-induced isomerization of the chromophore 11-cis-retinal to all-trans-retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343).", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100#function" }, { "database": "PubMed", "id": "7846071", "url": "https://glygen.org/publication/PubMed/7846071" }, { "database": "PubMed", "id": "26200343", "url": "https://glygen.org/publication/PubMed/26200343" }, { "database": "PubMed", "id": "12566452", "url": "https://glygen.org/publication/PubMed/12566452" }, { "database": "PubMed", "id": "28753425", "url": "https://glygen.org/publication/PubMed/28753425" }, { "database": "PubMed", "id": "28524165", "url": "https://glygen.org/publication/PubMed/28524165" }, { "database": "PubMed", "id": "2215617", "url": "https://glygen.org/publication/PubMed/2215617" }, { "database": "PubMed", "id": "8107847", "url": "https://glygen.org/publication/PubMed/8107847" } ] }, { "annotation": "Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" }, { "database": "PubMed", "id": "37470211", "url": "https://glygen.org/publication/PubMed/37470211" } ] }, { "annotation": "Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" }, { "database": "PubMed", "id": "35428710", "url": "https://glygen.org/publication/PubMed/35428710" } ] }, { "annotation": "Structural Basis of Arrestin Selectivity for Active Phosphorylated G Protein-Coupled Receptors. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" }, { "database": "PubMed", "id": "34830362", "url": "https://glygen.org/publication/PubMed/34830362" } ] }, { "annotation": "The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" } ] } ], "disease": [ { "disease_id": "DOID:0110372", "recommended_name": { "id": "DOID:0110372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110372", "name": "retinitis pigmentosa 4", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22." }, "synonyms": [ { "id": "DOID:0110372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110372", "name": "RP4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "RHO retinitis pigmentosa", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "RP4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4, autosomal dominant or recessive", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa caused by mutation in RHO", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa type 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "RP 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa, rhodopsin-related", "description": "" }, { "id": "MIM:613731", "resource": "MIM", "url": "https://www.omim.org/entry/613731", "name": "Retinitis pigmentosa 4", "description": "Retinitis pigmentosa 4" } ], "evidence": [ { "id": "613731", "database": "MIM", "url": "https://www.omim.org/entry/613731" } ] }, { "disease_id": "DOID:0110862", "recommended_name": { "id": "DOID:0110862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110862", "name": "congenital stationary night blindness autosomal dominant 1", "description": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1." }, "synonyms": [ { 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"MONDO:0012498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012498", "name": "congenital stationary night blindness autosomal dominant type 1", "description": "" }, { "id": "MONDO:0012498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012498", "name": "congenital stationary night blindness caused by mutation in RHO", "description": "" }, { "id": "MONDO:0012498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012498", "name": "night blindness, congenital stationary, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0012498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012498", "name": "rhodopsin-related congenital stationary night blindness", "description": "" }, { "id": "MONDO:0012498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012498", "name": "night blindness, congenital stationary, autosomal dominant 1", "description": "" 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15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).", "chr_id": "3", "chr_pos": "129528778", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "disease": [ { "disease_id": "DOID:0110372", "recommended_name": { "id": "DOID:0110372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110372", "name": "retinitis pigmentosa 4", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22." }, "synonyms": [ { "id": "DOID:0110372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110372", "name": "RP4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "RHO retinitis pigmentosa", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "RP4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4, autosomal dominant or recessive", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa caused by mutation in RHO", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis 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"https://glygen.org/publication/PubMed/8353500" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "3", "chr_pos": "129528777", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N15", "disease": [ { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ] }, { 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"name": "RP4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa 4, autosomal dominant or recessive", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa caused by mutation in RHO", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "retinitis pigmentosa type 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013395", "name": "RP 4", "description": "" }, { "id": "MONDO:0013395", "resource": "MONDO", "url": 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"evidence": [ { "id": "rs104893769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893769" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAK).", "chr_id": "3", "chr_pos": "129528783", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T17", "disease": [ { "disease_id": "DOID:0110372", "recommended_name": { "id": "DOID:0110372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110372", "name": "retinitis pigmentosa 4", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22." }, "synonyms": [ { "id": "DOID:0110372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110372", "name": "RP4", "description": "" }, { "id": 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08100", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08100" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08100", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08100" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08100" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08100", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08100" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08100", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08100" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P08100", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08100" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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M, Beese LS, Beshore DC, Bhimnathwala H, Bogusky MJ, Buser CA, Culberson JC, Davide J, Ellis-Hutchings M, Fernandes C, Gibbs JB, Graham SL, Hamilton KA, Hartman GD, Heimbrook DC, Homnick CF, Huber HE, Huff JR, Kassahun K, Koblan KS, Kohl NE, Lobell RB, Lynch JJ Jr, Robinson R, Rodrigues AD, Taylor JS, Walsh ES, Williams TM, Zartman CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12036349", "url": "https://glygen.org/publication/PubMed/12036349" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hu G, Wensel TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12119397", "url": "https://glygen.org/publication/PubMed/12119397" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. Drug discovery", "date": "2002", "authors": "Neubig RR, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "Rhodopsin with 11-cis-locked chromophore is capable of forming an active state photoproduct.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fan G, Siebert F, Sheves M, Vogel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12177057", "url": "https://glygen.org/publication/PubMed/12177057" } ] }, { "title": "A Rab8-specific GDP/GTP exchange factor is involved in actin remodeling and polarized membrane transport.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Hattula K, Furuhjelm J, Arffman A, Peranen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "12221131", "url": "https://glygen.org/publication/PubMed/12221131" } ] }, { "title": "Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE.", "journal": "Investigative ophthalmology & visual science", "date": "2002", "authors": "Wu BX, Chen Y, Chen Y, Fan J, Rohrer B, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12407145", "url": "https://glygen.org/publication/PubMed/12407145" } ] }, { "title": "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.", "journal": "Nature", "date": "2002", "authors": "Zhong H, Molday LL, Molday RS, Yau KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "12432397", "url": "https://glygen.org/publication/PubMed/12432397" } ] }, { "title": "Subunit stoichiometry of the CNG channel of rod photoreceptors.", "journal": "Neuron", "date": "2002", "authors": "Weitz D, Ficek N, Kremmer E, Bauer PJ, Kaupp UB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "12467591", "url": "https://glygen.org/publication/PubMed/12467591" } ] }, { "title": "Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit.", "journal": "Neuron", "date": "2002", "authors": "Zheng J, Trudeau MC, Zagotta WN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "12467592", "url": "https://glygen.org/publication/PubMed/12467592" } ] }, { "title": "Identification of protein kinase C isozymes responsible for the phosphorylation of photoreceptor-specific RGS9-1 at Ser475.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Sokal I, Hu G, Liang Y, Mao M, Wensel TG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12499365", "url": "https://glygen.org/publication/PubMed/12499365" } ] }, { "title": "Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Noorwez SM, Kuksa V, Imanishi Y, Zhu L, Filipek S, Palczewski K, Kaushal S", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "12566452", "url": "https://glygen.org/publication/PubMed/12566452" } ] }, { "title": "Dual protein farnesyltransferase-geranylgeranyltransferase-I inhibitors as potential cancer chemotherapeutic agents.", "journal": "Journal of medicinal chemistry", "date": "2003", "authors": "deSolms SJ, Ciccarone TM, MacTough SC, Shaw AW, Buser CA, Ellis-Hutchings M, Fernandes C, Hamilton KA, Huber HE, Kohl NE, Lobell RB, Robinson RG, Tsou NN, Walsh ES, Graham SL, Beese LS, Taylor JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12825937", "url": "https://glygen.org/publication/PubMed/12825937" } ] }, { "title": "Defective colour vision associated with a missense mutation in the human green visual pigment gene.", "journal": "Nature genetics", "date": "1992", "authors": "Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "1302020", "url": "https://glygen.org/publication/PubMed/1302020" } ] }, { "title": "Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.", "journal": "Human molecular genetics", "date": "1992", "authors": "Farrar GJ, Findlay JB, Kumar-Singh R, Kenna P, Humphries MM, Sharpe E, Humphries P", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "1302614", "url": "https://glygen.org/publication/PubMed/1302614" } ] }, { "title": "Molecular cloning of a retina-specific membrane guanylyl cyclase.", "journal": "Neuron", "date": "1992", "authors": "Shyjan AW, de Sauvage FJ, Gillett NA, Goeddel DV, Lowe DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1356371", "url": "https://glygen.org/publication/PubMed/1356371" } ] }, { "title": "Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1992", "authors": "Dhallan RS, Macke JP, Eddy RL, Shows TB, Reed RR, Yau KW, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1379636", "url": "https://glygen.org/publication/PubMed/1379636" } ] }, { "title": "Isolation of human retinal genes: recoverin cDNA and gene.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Murakami A, Yajima T, Inana G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1387789", "url": "https://glygen.org/publication/PubMed/1387789" } ] }, { "title": "Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).", "journal": "The Japanese journal of human genetics", "date": "1992", "authors": "Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M, Sakuma T, Tamai M, Hikiji K, Kawaguchi R, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "1391967", "url": "https://glygen.org/publication/PubMed/1391967" } ] }, { "title": "Lipid modification at the N terminus of photoreceptor G-protein alpha-subunit.", "journal": "Nature", "date": "1992", "authors": "Kokame K, Fukada Y, Yoshizawa T, Takao T, Shimonishi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1436039", "url": "https://glygen.org/publication/PubMed/1436039" } ] }, { "title": "Neuropsin (Opn5): a novel opsin identified in mammalian neural tissue.", "journal": "FEBS letters", "date": "2003", "authors": "Tarttelin EE, Bellingham J, Hankins MW, Foster RG, Lucas RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "14623103", "url": "https://glygen.org/publication/PubMed/14623103" } ] }, { "title": "Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.", "journal": "Nature", "date": "2004", "authors": "Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "14702087", "url": "https://glygen.org/publication/PubMed/14702087" } ] }, { "title": "The exocyst localizes to the primary cilium in MDCK cells.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Rogers KK, Wilson PD, Snyder RW, Zhang X, Guo W, Burrow CR, Lipschutz JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "15158452", "url": "https://glygen.org/publication/PubMed/15158452" } ] }, { "title": "Retinosomes: new insights into intracellular managing of hydrophobic substances in lipid bodies.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Imanishi Y, Gerke V, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15314061", "url": "https://glygen.org/publication/PubMed/15314061" } ] }, { "title": "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.", "journal": "American journal of human genetics", "date": "1992", "authors": "Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "1531728", "url": "https://glygen.org/publication/PubMed/1531728" } ] }, { "title": "N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Beharry S, Zhong M, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15471866", "url": "https://glygen.org/publication/PubMed/15471866" } ] }, { "title": "Polymorphism in red photopigment underlies variation in colour matching.", "journal": "Nature", "date": "1992", "authors": "Winderickx J, Lindsey DT, Sanocki E, Teller DY, Motulsky AG, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "1557123", "url": "https://glygen.org/publication/PubMed/1557123" } ] }, { "title": "Induction of photosensitivity by heterologous expression of melanopsin.", "journal": "Nature", "date": "2005", "authors": "Qiu X, Kumbalasiri T, Carlson SM, Wong KY, Krishna V, Provencio I, Berson DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "15674243", "url": "https://glygen.org/publication/PubMed/15674243" } ] }, { "title": "Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Deretic D, Williams AH, Ransom N, Morel V, Hargrave PA, Arendt A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "15728366", "url": "https://glygen.org/publication/PubMed/15728366" } ] }, { "title": "Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.", "journal": "Biochemistry", "date": "2005", "authors": "Belyaeva OV, Korkina OV, Stetsenko AV, Kim T, Nelson PS, Kedishvili NY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15865448", "url": "https://glygen.org/publication/PubMed/15865448" } ] }, { "title": "Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Horner TJ, Osawa S, Schaller MD, Weiss ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "15946941", "url": "https://glygen.org/publication/PubMed/15946941" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Regulation of ASAP1 by phospholipids is dependent on the interface between the PH and Arf GAP domains.", "journal": "Cellular signalling", "date": "2005", "authors": "Che MM, Boja ES, Yoon HY, Gruschus J, Jaffe H, Stauffer S, Schuck P, Fales HM, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16038802", "url": "https://glygen.org/publication/PubMed/16038802" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "Characterization of the human rod transducin alpha-subunit gene.", "journal": "Nucleic acids research", "date": "1992", "authors": "Fong SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1614872", "url": "https://glygen.org/publication/PubMed/1614872" } ] }, { "title": "Sec15 interacts with Rab11 via a novel domain and affects Rab11 localization in vivo.", "journal": "Nature structural & molecular biology", "date": "2005", "authors": "Wu S, Mehta SQ, Pichaud F, Bellen HJ, Quiocho FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16155582", "url": "https://glygen.org/publication/PubMed/16155582" } ] }, { "title": "Structural basis for the functional differences between type I and type II human methionine aminopeptidases.", "journal": "Biochemistry", "date": "2005", "authors": "Addlagatta A, Hu X, Liu JO, Matthews BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "16274222", "url": "https://glygen.org/publication/PubMed/16274222" } ] }, { "title": "A BAR domain in the N terminus of the Arf GAP ASAP1 affects membrane structure and trafficking of epidermal growth factor receptor.", "journal": "Current biology : CB", "date": "2006", "authors": "Nie Z, Hirsch DS, Luo R, Jian X, Stauffer S, Cremesti A, Andrade J, Lebowitz J, Marino M, Ahvazi B, Hinshaw JE, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16431365", "url": "https://glygen.org/publication/PubMed/16431365" } ] }, { "title": "CNG and HCN channels: two peas, one pod.", "journal": "Annual review of physiology", "date": "2006", "authors": "Craven KB, Zagotta WN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "16460277", "url": "https://glygen.org/publication/PubMed/16460277" } ] }, { "title": "Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.", "journal": "Journal of cell science", "date": "2006", "authors": "Geng L, Okuhara D, Yu Z, Tian X, Cai Y, Shibazaki S, Somlo S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16537653", "url": "https://glygen.org/publication/PubMed/16537653" } ] }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "2005", "authors": "Chen CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16634148", "url": "https://glygen.org/publication/PubMed/16634148" } ] }, { "title": "Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17.", "journal": "Current biology : CB", "date": "2006", "authors": "Jenkins PM, Hurd TW, Zhang L, McEwen DP, Brown RL, Margolis B, Verhey KJ, Martens JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "16782012", "url": "https://glygen.org/publication/PubMed/16782012" } ] }, { "title": "Transducin subunit stoichiometry and cellular distribution in rod outer segments.", "journal": "Cell biology international", "date": "2006", "authors": "Clack JW, Springmeyer ML, Clark CR, Witzmann FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "16895762", "url": "https://glygen.org/publication/PubMed/16895762" } ] }, { "title": "RGS expression rate-limits recovery of rod photoresponses.", "journal": "Neuron", "date": "2006", "authors": "Krispel CM, Chen D, Melling N, Chen YJ, Martemyanov KA, Quillinan N, Arshavsky VY, Wensel TG, Chen CK, Burns ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "16908407", "url": "https://glygen.org/publication/PubMed/16908407" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Structural basis for Rab11-mediated recruitment of FIP3 to recycling endosomes.", "journal": "Journal of molecular biology", "date": "2006", "authors": "Eathiraj S, Mishra A, Prekeris R, Lambright DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17007872", "url": "https://glygen.org/publication/PubMed/17007872" } ] }, { "title": "Structural basis for Rab11-dependent membrane recruitment of a family of Rab11-interacting protein 3 (FIP3)/Arfophilin-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Shiba T, Koga H, Shin HW, Kawasaki M, Kato R, Nakayama K, Wakatsuki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17030804", "url": "https://glygen.org/publication/PubMed/17030804" } ] }, { "title": "Elucidation of the function of type 1 human methionine aminopeptidase during cell cycle progression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Hu X, Addlagatta A, Lu J, Matthews BW, Liu JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "17114291", "url": "https://glygen.org/publication/PubMed/17114291" } ] }, { "title": "Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3.", "journal": "Nucleic acids research", "date": "1991", "authors": "Weber B, Riess O, Hutchinson G, Collins C, Lin BY, Kowbel D, Andrew S, Schappert K, Hayden MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1720239", "url": "https://glygen.org/publication/PubMed/1720239" } ] }, { "title": "Light and dark active phosphodiesterase regulation in salamander rods.", "journal": "The Journal of general physiology", "date": "1991", "authors": "Cobbs WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1722240", "url": "https://glygen.org/publication/PubMed/1722240" } ] }, { "title": "A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Kawaguchi R, Yu J, Honda J, Hu J, Whitelegge J, Ping P, Wiita P, Bok D, Sun H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "17255476", "url": "https://glygen.org/publication/PubMed/17255476" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Molecular characterization of Rab11-FIP3 binding to ARF GTPases.", "journal": "European journal of cell biology", "date": "2007", "authors": "Schonteich E, Pilli M, Simon GC, Matern HT, Junutula JR, Sentz D, Holmes RK, Prekeris R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17628206", "url": "https://glygen.org/publication/PubMed/17628206" } ] }, { "title": "Highly potent inhibitors of methionine aminopeptidase-2 based on a 1,2,4-triazole pharmacophore.", "journal": "Journal of medicinal chemistry", "date": "2007", "authors": "Marino JP Jr, Fisher PW, Hofmann GA, Kirkpatrick RB, Janson CA, Johnson RK, Ma C, Mattern M, Meek TD, Ryan MD, Schulz C, Smith WW, Tew DG, Tomazek TA Jr, Veber DF, Xiong WC, Yamamoto Y, Yamashita K, Yang G, Thompson SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "17636946", "url": "https://glygen.org/publication/PubMed/17636946" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Dissecting the role of the ARF guanine nucleotide exchange factor GBF1 in Golgi biogenesis and protein trafficking.", "journal": "Journal of cell science", "date": "2007", "authors": "Szul T, Grabski R, Lyons S, Morohashi Y, Shestopal S, Lowe M, Sztul E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "17956946", "url": "https://glygen.org/publication/PubMed/17956946" } ] }, { "title": "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991-10-15", "authors": "Dryja T P, Hahn L B, Cowley G S, McGee T L, Berson E L", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "1833777", "url": "https://glygen.org/publication/PubMed/1833777" } ] }, { "title": "Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.", "journal": "Genomics", "date": "1991", "authors": "Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "1840561", "url": "https://glygen.org/publication/PubMed/1840561" } ] }, { "title": "Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Rhodopsin mutations in autosomal dominant retinitis pigmentosa.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Sung CH, Davenport CM, Hennessey JC, Maumenee IH, Jacobson SG, Heckenlively JR, Nowakowski R, Fishman G, Gouras P, Nathans J", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" }, { "database": "dbSNP", "id": "rs104893769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893769" } ], "reference": [ { "type": "PubMed", "id": "1862076", "url": "https://glygen.org/publication/PubMed/1862076" } ] }, { "title": "Arf GTPase-activating protein ASAP1 interacts with Rab11 effector FIP3 and regulates pericentrosomal localization of transferrin receptor-positive recycling endosome.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Inoue H, Ha VL, Prekeris R, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "18685082", "url": "https://glygen.org/publication/PubMed/18685082" } ] }, { "title": "Phosphorylation of GRK7 by PKA in cone photoreceptor cells is regulated by light.", "journal": "Journal of neurochemistry", "date": "2008", "authors": "Osawa S, Jo R, Weiss ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "18803695", "url": "https://glygen.org/publication/PubMed/18803695" } ] }, { "title": "Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.", "journal": "American journal of ophthalmology", "date": "1991", "authors": "Jacobson SG, Kemp CM, Sung CH, Nathans J", "evidence": [ { "database": "dbSNP", "id": "rs104893769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893769" } ], "reference": [ { "type": "PubMed", "id": "1882937", "url": "https://glygen.org/publication/PubMed/1882937" } ] }, { "title": "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.", "journal": "American journal of human genetics", "date": "1991", "authors": "Sheffield VC, Fishman GA, Beck JS, Kimura AE, Stone EM", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "1897520", "url": "https://glygen.org/publication/PubMed/1897520" } ] }, { "title": "Autoinhibition of Arf GTPase-activating protein activity by the BAR domain in ASAP1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Jian X, Brown P, Schuck P, Gruschus JM, Balbo A, Hinshaw JE, Randazzo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19017632", "url": "https://glygen.org/publication/PubMed/19017632" } ] }, { "title": "Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Takahashi Y, Moiseyev G, Ablonczy Z, Chen Y, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "19049981", "url": "https://glygen.org/publication/PubMed/19049981" } ] }, { "title": "Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4.", "journal": "The EMBO journal", "date": "2009", "authors": "Mazelova J, Astuto-Gribble L, Inoue H, Tam BM, Schonteich E, Prekeris R, Moritz OL, Randazzo PA, Deretic D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19153612", "url": "https://glygen.org/publication/PubMed/19153612" } ] }, { "title": "The first step in vision: femtosecond isomerization of rhodopsin.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Schoenlein RW, Peteanu LA, Mathies RA, Shank CV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "1925597", "url": "https://glygen.org/publication/PubMed/1925597" } ] }, { "title": "The exocyst protein Sec10 is necessary for primary ciliogenesis and cystogenesis in vitro.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Zuo X, Guo W, Lipschutz JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19297529", "url": "https://glygen.org/publication/PubMed/19297529" } ] }, { "title": "Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.", "journal": "Human mutation", "date": "2009", "authors": "Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attie-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "19309693", "url": "https://glygen.org/publication/PubMed/19309693" } ] }, { "title": "Syntaxin 3 and SNAP-25 pairing, regulated by omega-3 docosahexaenoic acid, controls the delivery of rhodopsin for the biogenesis of cilia-derived sensory organelles, the rod outer segments.", "journal": "Journal of cell science", "date": "2009", "authors": "Mazelova J, Ransom N, Astuto-Gribble L, Wilson MC, Deretic D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "19454479", "url": "https://glygen.org/publication/PubMed/19454479" } ] }, { "title": "Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).", "journal": "Ophthalmology", "date": "2010", "authors": "Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "19818506", "url": "https://glygen.org/publication/PubMed/19818506" } ] }, { "title": "A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.", "journal": "American journal of human genetics", "date": "1991", "authors": "Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "1985460", "url": "https://glygen.org/publication/PubMed/1985460" } ] }, { "title": "A dual role for EDEM1 in the processing of rod opsin.", "journal": "Journal of cell science", "date": "2009", "authors": "Kosmaoglou M, Kanuga N, Aguila M, Garriga P, Cheetham ME", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "19934218", "url": "https://glygen.org/publication/PubMed/19934218" } ] }, { "title": "A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.", "journal": "Molecular vision", "date": "2009", "authors": "Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "19960070", "url": "https://glygen.org/publication/PubMed/19960070" } ] }, { "title": "A photoreceptor calcium binding protein is recognized by autoantibodies obtained from patients with cancer-associated retinopathy.", "journal": "The Journal of cell biology", "date": "1991", "authors": "Polans AS, Buczylko J, Crabb J, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1999465", "url": "https://glygen.org/publication/PubMed/1999465" } ] }, { "title": "Structural characteristics of BAR domain superfamily to sculpt the membrane.", "journal": "Seminars in cell & developmental biology", "date": "2010", "authors": "Masuda M, Mochizuki N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "20083215", "url": "https://glygen.org/publication/PubMed/20083215" } ] }, { "title": "Structure and activation of the visual pigment rhodopsin.", "journal": "Annual review of biophysics", "date": "2010", "authors": "Smith SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "20192770", "url": "https://glygen.org/publication/PubMed/20192770" } ] }, { "title": "Coordination of Rab8 and Rab11 in primary ciliogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Knodler A, Feng S, Zhang J, Zhang X, Das A, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "20308558", "url": "https://glygen.org/publication/PubMed/20308558" } ] }, { "title": "Lessons from photoreceptors: turning off g-protein signaling in living cells.", "journal": "Physiology (Bethesda, Md.)", "date": "2010", "authors": "Burns ME, Pugh EN Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "20430952", "url": "https://glygen.org/publication/PubMed/20430952" } ] }, { "title": "Q344ter mutation causes mislocalization of rhodopsin molecules that are catalytically active: a mouse model of Q344ter-induced retinal degeneration.", "journal": "PloS one", "date": "2010", "authors": "Concepcion F, Chen J", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "20532191", "url": "https://glygen.org/publication/PubMed/20532191" } ] }, { "title": "A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.", "journal": "American journal of human genetics", "date": "2010", "authors": "Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "20850105", "url": "https://glygen.org/publication/PubMed/20850105" } ] }, { "title": "Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.", "journal": "Nature communications", "date": "2010", "authors": "Magnani R, Dirk LM, Trievel RC, Houtz RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "20975703", "url": "https://glygen.org/publication/PubMed/20975703" } ] }, { "title": "Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "21273506", "url": "https://glygen.org/publication/PubMed/21273506" } ] }, { "title": "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.", "journal": "Nature", "date": "1990", "authors": "Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "2137202", "url": "https://glygen.org/publication/PubMed/2137202" } ] }, { "title": "The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.", "journal": "Human molecular genetics", "date": "2011", "authors": "Lopes VS, Gibbs D, Libby RT, Aleman TS, Welch DL, Lillo C, Jacobson SG, Radu RA, Steel KP, Williams DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "21493626", "url": "https://glygen.org/publication/PubMed/21493626" } ] }, { "title": "Rabs and the exocyst in ciliogenesis, tubulogenesis and beyond.", "journal": "Trends in cell biology", "date": "2011", "authors": "Das A, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "21550243", "url": "https://glygen.org/publication/PubMed/21550243" } ] }, { "title": "Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.", "journal": "Genomics", "date": "1990", "authors": "Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2155175", "url": "https://glygen.org/publication/PubMed/2155175" } ] }, { "title": "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.", "journal": "Cell", "date": "2011", "authors": "Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" } ] }, { "title": "Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina.", "journal": "Gene", "date": "1990", "authors": "Tuteja N, Danciger M, Klisak I, Tuteja R, Inana G, Mohandas T, Sparkes RS, Farber DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2161380", "url": "https://glygen.org/publication/PubMed/2161380" } ] }, { "title": "Receptor-mediated cellular uptake mechanism that couples to intracellular storage.", "journal": "ACS chemical biology", "date": "2011", "authors": "Kawaguchi R, Yu J, Ter-Stepanian M, Zhong M, Cheng G, Yuan Q, Jin M, Travis GH, Ong D, Sun H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "21774515", "url": "https://glygen.org/publication/PubMed/21774515" } ] }, { "title": "A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Ward HH, Brown-Glaberman U, Wang J, Morita Y, Alper SL, Bedrick EJ, Gattone VH 2nd, Deretic D, Wandinger-Ness A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "21775626", "url": "https://glygen.org/publication/PubMed/21775626" } ] }, { "title": "Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.", "journal": "The New England journal of medicine", "date": "1990", "authors": "Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "2215617", "url": "https://glygen.org/publication/PubMed/2215617" } ] }, { "title": "Next-generation genetic testing for retinitis pigmentosa.", "journal": "Human mutation", "date": "2012", "authors": "Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "22334370", "url": "https://glygen.org/publication/PubMed/22334370" } ] }, { "title": "The emerging role of Arf/Arl small GTPases in cilia and ciliopathies.", "journal": "Journal of cellular biochemistry", "date": "2012", "authors": "Li Y, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "22389062", "url": "https://glygen.org/publication/PubMed/22389062" } ] }, { "title": "Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline-->histidine substitution (codon 23) in pedigrees from Europe.", "journal": "Am. J. Hum. Genet.", "date": "1990", "authors": "Farrar G J, Kenna P, Redmond R, McWilliam P, Bradley D G, Humphries M M, Sharp E M, Inglehearn C F, Bashir R, Jay M", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "2239971", "url": "https://glygen.org/publication/PubMed/2239971" } ] }, { "title": "Exorcising the exocyst complex.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Heider MR, Munson M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "22420621", "url": "https://glygen.org/publication/PubMed/22420621" } ] }, { "title": "A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Feng S, Knodler A, Ren J, Zhang J, Zhang X, Hong Y, Huang S, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "22433857", "url": "https://glygen.org/publication/PubMed/22433857" } ] }, { "title": "Speed, sensitivity, and stability of the light response in rod and cone photoreceptors: facts and models.", "journal": "Progress in retinal and eye research", "date": "2012", "authors": "Korenbrot JI", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "22658984", "url": "https://glygen.org/publication/PubMed/22658984" } ] }, { "title": "Cross talk between signaling and vitamin A transport by the retinol-binding protein receptor STRA6.", "journal": "Molecular and cellular biology", "date": "2012", "authors": "Berry DC, O'Byrne SM, Vreeland AC, Blaner WS, Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "22665496", "url": "https://glygen.org/publication/PubMed/22665496" } ] }, { "title": "The Arf GAP ASAP1 provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary receptor targeting.", "journal": "The EMBO journal", "date": "2012", "authors": "Wang J, Morita Y, Mazelova J, Deretic D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "22983554", "url": "https://glygen.org/publication/PubMed/22983554" } ] }, { "title": "Characterization and comparative structural features of the gene for human interstitial retinol-binding protein.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Fong SL, Fong WB, Morris TA, Kedzie KM, Bridges CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "2303470", "url": "https://glygen.org/publication/PubMed/2303470" } ] }, { "title": "Trafficking in and to the primary cilium.", "journal": "Cilia", "date": "2012", "authors": "Hsiao YC, Tuz K, Ferland RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "23351793", "url": "https://glygen.org/publication/PubMed/23351793" } ] }, { "title": "Crosstalk of Arf and Rab GTPases en route to cilia.", "journal": "Small GTPases", "date": "2013", "authors": "Deretic D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "23567335", "url": "https://glygen.org/publication/PubMed/23567335" } ] }, { "title": "Intraflagellar transport complex structure and cargo interactions.", "journal": "Cilia", "date": "2013", "authors": "Bhogaraju S, Engel BD, Lorentzen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "23945166", "url": "https://glygen.org/publication/PubMed/23945166" } ] }, { "title": "Electrical properties of the light-sensitive conductance of rods of the salamander Ambystoma tigrinum.", "journal": "The Journal of physiology", "date": "1986", "authors": "Baylor DA, Nunn BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2422346", "url": "https://glygen.org/publication/PubMed/2422346" } ] }, { "title": "The roles of evolutionarily conserved functional modules in cilia-related trafficking.", "journal": "Nature cell biology", "date": "2013", "authors": "Sung CH, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620916", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620916" } ], "reference": [ { "type": "PubMed", "id": "24296415", "url": "https://glygen.org/publication/PubMed/24296415" } ] }, { "title": "Calcium and magnesium fluxes across the plasma membrane of the toad rod outer segment.", "journal": "The Journal of physiology", "date": "1988", "authors": "Nakatani K, Yau KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2457685", "url": "https://glygen.org/publication/PubMed/2457685" } ] }, { "title": "Cyclic GMP-activated conductance of retinal photoreceptor cells.", "journal": "Annual review of neuroscience", "date": "1989", "authors": "Yau KW, Baylor DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2467600", "url": "https://glygen.org/publication/PubMed/2467600" } ] }, { "title": "Control of light-sensitive current in salamander rods.", "journal": "The Journal of physiology", "date": "1988", "authors": "Hodgkin AL, Nunn BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2473195", "url": "https://glygen.org/publication/PubMed/2473195" } ] }, { "title": "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.", "journal": "Neuron", "date": "1989", "authors": "Lerea CL, Bunt-Milam AH, Hurley JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2534964", "url": "https://glygen.org/publication/PubMed/2534964" } ] }, { "title": "The catalytic subunit of phosphatase 2A dephosphorylates phosphoopsin.", "journal": "Biochemistry", "date": "1989", "authors": "Palczewski K, Hargrave PA, McDowell JH, Ingebritsen TS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "2540796", "url": "https://glygen.org/publication/PubMed/2540796" } ] }, { "title": "Human interstitial retinoid-binding protein. Gene structure and primary structure.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Liou GI, Ma DP, Yang YW, Geng L, Zhu C, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "2542268", "url": "https://glygen.org/publication/PubMed/2542268" } ] }, { "title": "Regulation of rhodopsin dephosphorylation by arrestin.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Palczewski K, McDowell JH, Jakes S, Ingebritsen TS, Hargrave PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "2550422", "url": "https://glygen.org/publication/PubMed/2550422" } ] }, { "title": "Interplay of phosphorylation and dephosphorylation in vision: protein phosphatases of bovine rod outer segments.", "journal": "Biochemistry", "date": "1989", "authors": "Fowles C, Akhtar M, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "2558719", "url": "https://glygen.org/publication/PubMed/2558719" } ] }, { "title": "Ultrastructural visualization of trans-ciliary rhodopsin cargoes in mammalian rods.", "journal": "Cilia", "date": "2015", "authors": "Chuang Jen-Zen, Hsu Ya-Chu, Sung Ching-Hwa", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "25664179", "url": "https://glygen.org/publication/PubMed/25664179" } ] }, { "title": "Induction by cyclic GMP of cationic conductance in plasma membrane of retinal rod outer segment.", "journal": "Nature", "date": "1985", "authors": "Fesenko EE, Kolesnikov SS, Lyubarsky AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2578616", "url": "https://glygen.org/publication/PubMed/2578616" } ] }, { "title": "Crystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.", "journal": "Nature", "date": "2015", "authors": "Kang Y, Zhou XE, Gao X, He Y, Liu W, Ishchenko A, Barty A, White TA, Yefanov O, Han GW, Xu Q, de Waal PW, Ke J, Tan MH, Zhang C, Moeller A, West GM, Pascal BD, Van Eps N, Caro LN, Vishnivetskiy SA, Lee RJ, Suino-Powell KM, Gu X, Pal K, Ma J, Zhi X, Boutet S, Williams GJ, Messerschmidt M, Gati C, Zatsepin NA, Wang D, James D, Basu S, Roy-Chowdhury S, Conrad CE, Coe J, Liu H, Lisova S, Kupitz C, Grotjohann I, Fromme R, Jiang Y, Tan M, Yang H, Li J, Wang M, Zheng Z, Li D, Howe N, Zhao Y, Standfuss J, Diederichs K, Dong Y, Potter CS, Carragher B, Caffrey M, Jiang H, Chapman HN, Spence JC, Fromme P, Weierstall U, Ernst OP, Katritch V, Gurevich VV, Griffin PR, Hubbell WL, Stevens RC, Cherezov V, Melcher K, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "26200343", "url": "https://glygen.org/publication/PubMed/26200343" } ] }, { "title": "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.", "journal": "Nucleic acids research", "date": "1989", "authors": "Van Dop C, Medynski DC, Apone LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2748346", "url": "https://glygen.org/publication/PubMed/2748346" } ] }, { "title": "Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2834384", "url": "https://glygen.org/publication/PubMed/2834384" } ] }, { "title": "Reciprocal control of retinal rod cyclic GMP phosphodiesterase by its gamma subunit and transducin.", "journal": "Proteins", "date": "1986", "authors": "Wensel TG, Stryer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2835761", "url": "https://glygen.org/publication/PubMed/2835761" } ] }, { "title": "Regulation of cyclic GMP metabolism in toad photoreceptors. Definition of the metabolic events subserving photoexcited and attenuated states.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Dawis SM, Graeff RM, Heyman RA, Walseth TF, Goldberg ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2837463", "url": "https://glygen.org/publication/PubMed/2837463" } ] }, { "title": "Molecular assembly of rhodopsin with G protein-coupled receptor kinases.", "journal": "Cell research", "date": "2017", "authors": "He Y, Gao X, Goswami D, Hou L, Pal K, Yin Y, Zhao G, Ernst OP, Griffin P, Melcher K, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "28524165", "url": "https://glygen.org/publication/PubMed/28524165" } ] }, { "title": "Identification of Phosphorylation Codes for Arrestin Recruitment by G Protein-Coupled Receptors.", "journal": "Cell", "date": "2017", "authors": "Zhou XE, He Y, de Waal PW, Gao X, Kang Y, Van Eps N, Yin Y, Pal K, Goswami D, White TA, Barty A, Latorraca NR, Chapman HN, Hubbell WL, Dror RO, Stevens RC, Cherezov V, Gurevich VV, Griffin PR, Ernst OP, Melcher K, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100#ptm_processing" }, { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" }, { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "28753425", "url": "https://glygen.org/publication/PubMed/28753425" } ] }, { "title": "A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.", "journal": "Investigative ophthalmology & visual science", "date": "2017", "authors": "Wang B, Liu Y, Chen S, Wu Y, Lin S, Duan Y, Zheng K, Zhang L, Gu X, Hong W, Shao H, Zeng X, Sun B, Duan S", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "28837730", "url": "https://glygen.org/publication/PubMed/28837730" } ] }, { "title": "Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Nathans J, Thomas D, Hogness DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "2937147", "url": "https://glygen.org/publication/PubMed/2937147" } ] }, { "title": "Rous sarcoma virus transforming protein lacking myristic acid phosphorylates known polypeptide substrates without inducing transformation.", "journal": "Cell", "date": "1986", "authors": "Kamps MP, Buss JE, Sefton BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "3006923", "url": "https://glygen.org/publication/PubMed/3006923" } ] }, { "title": "Arrestin-1 engineering facilitates complex stabilization with native rhodopsin.", "journal": "Scientific reports", "date": "2019", "authors": "Haider RS, Wilhelm F, Rizk A, Mutt E, Deupi X, Peterhans C, Muhle J, Berger P, Schertler GFX, Standfuss J, Ostermaier MK", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "30679635", "url": "https://glygen.org/publication/PubMed/30679635" } ] }, { "title": "Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.", "journal": "The Journal of biological chemistry", "date": "2019", "authors": "Salom D, Jin H, Gerken TA, Yu C, Huang L, Palczewski K", "evidence": [ { "database": "Automatic Literature Mining", "id": "30948514", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/30948514" } ], "reference": [ { "type": "PubMed", "id": "30948514", "url": "https://glygen.org/publication/PubMed/30948514" } ] }, { "title": "Beta-subunits of the human liver Gs/Gi signal-transducing proteins and those of bovine retinal rod cell transducin are identical.", "journal": "FEBS letters", "date": "1986", "authors": "Codina J, Stengel D, Woo SL, Birnbaumer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "3095147", "url": "https://glygen.org/publication/PubMed/3095147" } ] }, { "title": "Cryo-EM structure of the rhodopsin-Galphai-betagamma complex reveals binding of the rhodopsin C-terminal tail to the gbeta subunit.", "journal": "eLife", "date": "2019", "authors": "Tsai CJ, Marino J, Adaixo R, Pamula F, Muehle J, Maeda S, Flock T, Taylor NM, Mohammed I, Matile H, Dawson RJ, Deupi X, Stahlberg H, Schertler G", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "31251171", "url": "https://glygen.org/publication/PubMed/31251171" } ] }, { "title": "The sequence of human retinal S-antigen reveals similarities with alpha-transducin.", "journal": "FEBS letters", "date": "1988", "authors": "Yamaki K, Tsuda M, Shinohara T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "3164688", "url": "https://glygen.org/publication/PubMed/3164688" } ] }, { "title": "Internal quadruplication in the structure of human interstitial retinol-binding protein deduced from its cloned cDNA.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Fong SL, Bridges CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "3170584", "url": "https://glygen.org/publication/PubMed/3170584" } ] }, { "title": "Structural Basis of Arrestin Selectivity for Active Phosphorylated G Protein-Coupled Receptors.", "journal": "International journal of molecular sciences", "date": "2021", "authors": "Karnam PC, Vishnivetskiy SA, Gurevich VV", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" } ], "reference": [ { "type": "PubMed", "id": "34830362", "url": "https://glygen.org/publication/PubMed/34830362" } ] }, { "title": "Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.", "journal": "The Journal of rheumatology", "date": "2022", "authors": "Lally L, Narula N, Goodfellow N, Luqmani R, Pisapia D, Spiera RF", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" } ], "reference": [ { "type": "PubMed", "id": "35428710", "url": "https://glygen.org/publication/PubMed/35428710" } ] }, { "title": "Retinal organoid models show heterozygous rhodopsin mutation favors endoplasmic reticulum stress-induced apoptosis in rods.", "journal": "Stem cells and development", "date": "2023-07-20", "authors": "Zhou Di, Yang Qiaohui, Li Jialin, Zeng Sicong, Li Zhuo, Liu Xiao, Li Jin, Zhou Wang, Chai Yujiao", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" } ], "reference": [ { "type": "PubMed", "id": "37470211", "url": "https://glygen.org/publication/PubMed/37470211" } ] }, { "title": "Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.", "journal": "Biophysical chemistry", "date": "2024-01", "authors": "Struts Andrey V, Barmasov Alexander V, Fried Steven D E, Hewage Kushani S K, Perera Suchithranga M D C, Brown Michael F", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" } ], "reference": [ { "type": "PubMed", "id": "37952496", "url": "https://glygen.org/publication/PubMed/37952496" } ] }, { "title": "Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.", "journal": "Japanese journal of ophthalmology", "date": "2024-01", "authors": "Tsutsui Saki, Murakami Yusuke, Fujiwara Kohta, Koyanagi Yoshito, Akiyama Masato, Takeda Atsunobu, Ikeda Yasuhiro, Sonoda Koh-Hei", "evidence": [ { "database": "RefSeq", "id": "NP_000530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000530" } ], "reference": [ { "type": "PubMed", "id": "38070066", "url": "https://glygen.org/publication/PubMed/38070066" } ] }, { "title": "Effect of GTP on the rhodopsin-G-protein complex by transient formation of extra metarhodopsin II.", "journal": "Biochimica et biophysica acta", "date": "1985", "authors": "Hofmann KP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "3933561", "url": "https://glygen.org/publication/PubMed/3933561" } ] }, { "title": "Regulation of cyclic nucleotide concentrations in photoreceptors: an ATP-dependent stimulation of cyclic nucleotide phosphodiesterase by light.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1973", "authors": "Miki N, Keirns JJ, Marcus FR, Freeman J, Bitensky MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "4359491", "url": "https://glygen.org/publication/PubMed/4359491" } ] }, { "title": "Light-regulated guanosine 3',5'-monophosphate phosphodiesterase of bovine retina.", "journal": "Nature", "date": "1974", "authors": "Goridis C, Virmaux N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "4361997", "url": "https://glygen.org/publication/PubMed/4361997" } ] }, { "title": "Light activation of phosphodiesterase activity in retinal rod outer segments.", "journal": "Biochimica et biophysica acta", "date": "1974", "authors": "Chader GJ, Herz LR, Fletcher RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "4366891", "url": "https://glygen.org/publication/PubMed/4366891" } ] }, { "title": "Kinetics of rhodopsin bleaching in the isolated human retina.", "journal": "The Journal of physiology", "date": "1973", "authors": "Baumann C, Bender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "4772407", "url": "https://glygen.org/publication/PubMed/4772407" } ] }, { "title": "The photosensitivities of visual pigments in the presence of hydroxylamine.", "journal": "Vision research", "date": "1968", "authors": "Dartnall HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "5315589", "url": "https://glygen.org/publication/PubMed/5315589" } ] }, { "title": "Flow of information in the light-triggered cyclic nucleotide cascade of vision.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Fung BK, Hurley JB, Stryer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "6264430", "url": "https://glygen.org/publication/PubMed/6264430" } ] }, { "title": "Complex formation between metarhodopsin II and GTP-binding protein in bovine photoreceptor membranes leads to a shift of the photoproduct equilibrium.", "journal": "FEBS letters", "date": "1982", "authors": "Emeis D, Kuhn H, Reichert J, Hofmann KP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6288450", "url": "https://glygen.org/publication/PubMed/6288450" } ] }, { "title": "The structure of bovine rhodopsin.", "journal": "Biophysics of structure and mechanism", "date": "1983", "authors": "Hargrave PA, McDowell JH, Curtis DR, Wang JK, Juszczak E, Fong SL, Rao JK, Argos P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6342691", "url": "https://glygen.org/publication/PubMed/6342691" } ] }, { "title": "The photocurrent, noise and spectral sensitivity of rods of the monkey Macaca fascicularis.", "journal": "The Journal of physiology", "date": "1984", "authors": "Baylor DA, Nunn BJ, Schnapf JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6512705", "url": "https://glygen.org/publication/PubMed/6512705" } ] }, { "title": "Isolation and nucleotide sequence of the gene encoding human rhodopsin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1984", "authors": "Nathans J, Hogness DS", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" }, { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "6589631", "url": "https://glygen.org/publication/PubMed/6589631" } ] }, { "title": "[Visual rhodopsin. III. Complete amino acid sequence and topography in a membrane].", "journal": "Bioorganicheskaia khimiia", "date": "1983", "authors": "Ovchinnikov IuA, Abdulaev NG, Feigina MIu, Artamonov ID, Bogachuk AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6679757", "url": "https://glygen.org/publication/PubMed/6679757" } ] }, { "title": "Photolyzed rhodopsin catalyzes the exchange of GTP for bound GDP in retinal rod outer segments.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Kwok-Keung Fung B, Stryer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "6930647", "url": "https://glygen.org/publication/PubMed/6930647" } ] }, { "title": "Interaction of calmodulin with the cyclic GMP-gated channel of rod photoreceptor cells. Modulation of activity, affinity purification, and localization.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Hsu YT, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7525588", "url": "https://glygen.org/publication/PubMed/7525588" } ] }, { "title": "Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Chen TY, Illing M, Molday LL, Hsu YT, Yau KW, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7526403", "url": "https://glygen.org/publication/PubMed/7526403" } ] }, { "title": "Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.", "journal": "Human molecular genetics", "date": "1995", "authors": "Macke JP, Hennessey JC, Nathans J", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "7633434", "url": "https://glygen.org/publication/PubMed/7633434" } ] }, { "title": "Eukaryotic methionyl aminopeptidases: two classes of cobalt-dependent enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Arfin SM, Kendall RL, Hall L, Weaver LH, Stewart AE, Matthews BW, Bradshaw RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7644482", "url": "https://glygen.org/publication/PubMed/7644482" } ] }, { "title": "Mechanism of rhodopsin phosphorylation.", "journal": "Biophysical chemistry", "date": "1995", "authors": "Zhao X, Palczewski K, Ohguro H", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "7662865", "url": "https://glygen.org/publication/PubMed/7662865" } ] }, { "title": "A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.", "journal": "Nature genetics", "date": "1995", "authors": "Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7670478", "url": "https://glygen.org/publication/PubMed/7670478" } ] }, { "title": "Modulation of the cGMP-gated channel of rod photoreceptor cells by calmodulin.", "journal": "Nature", "date": "1993", "authors": "Hsu YT, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7678445", "url": "https://glygen.org/publication/PubMed/7678445" } ] }, { "title": "A new subunit of the cyclic nucleotide-gated cation channel in retinal rods.", "journal": "Nature", "date": "1993", "authors": "Chen TY, Peng YW, Dhallan RS, Ahamed B, Reed RR, Yau KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "7682292", "url": "https://glygen.org/publication/PubMed/7682292" } ] }, { "title": "Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7777544", "url": "https://glygen.org/publication/PubMed/7777544" } ] }, { "title": "Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "7846071", "url": "https://glygen.org/publication/PubMed/7846071" } ] }, { "title": "Structural studies of the N-linked sugar chains of human rhodopsin.", "journal": "Glycobiology", "date": "1994", "authors": "Fujita S, Endo T, Ju J, Kean EL, Kobata A", "evidence": [ { "database": "GlyConnect", "id": "525", "url": "https://glyconnect.expasy.org/browser/proteins/525" } ], "reference": [ { "type": "PubMed", "id": "7881178", "url": "https://glygen.org/publication/PubMed/7881178" } ] }, { "title": "Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Intres R, Goldflam S, Cook JR, Crabb JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "7929238", "url": "https://glygen.org/publication/PubMed/7929238" } ] }, { "title": "Mechanism of GTP hydrolysis by G-protein alpha subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Kleuss C, Raw AS, Lee E, Sprang SR, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "7937899", "url": "https://glygen.org/publication/PubMed/7937899" } ] }, { "title": "A human opsin-related gene that encodes a retinaldehyde-binding protein.", "journal": "Biochemistry", "date": "1994", "authors": "Shen D, Jiang M, Hao W, Tao L, Salazar M, Fong HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "7947717", "url": "https://glygen.org/publication/PubMed/7947717" } ] }, { "title": "Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.", "journal": "Human molecular genetics", "date": "1994", "authors": "Fuchs S, Kranich H, Denton MJ, Zrenner E, Bhattacharya SS, Humphries P, Gal A", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "7981701", "url": "https://glygen.org/publication/PubMed/7981701" } ] }, { "title": "Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Subbaraya I, Ruiz CC, Helekar BS, Zhao X, Gorczyca WA, Pettenati MJ, Rao PN, Palczewski K, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7983048", "url": "https://glygen.org/publication/PubMed/7983048" } ] }, { "title": "Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.", "journal": "Human molecular genetics", "date": "1994", "authors": "Antinolo G, Sanchez B, Borrego S, Rueda T, Chaparro P, Cabeza JC", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "7987326", "url": "https://glygen.org/publication/PubMed/7987326" } ] }, { "title": "Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.", "journal": "Human molecular genetics", "date": "1994", "authors": "Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "7987331", "url": "https://glygen.org/publication/PubMed/7987331" } ] }, { "title": "Missense rhodopsin mutation in a family with recessive RP.", "journal": "Nature genetics", "date": "1994", "authors": "Kumaramanickavel G, Maw M, Denton MJ, John S, Srikumari CR, Orth U, Oehlmann R, Gal A", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "7987385", "url": "https://glygen.org/publication/PubMed/7987385" } ] }, { "title": "Human taste cells express the G protein alpha-gustducin and neuron-specific enolase.", "journal": "Brain research. Molecular brain research", "date": "1994", "authors": "Takami S, Getchell TV, McLaughlin SK, Margolskee RF, Getchell ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "8015379", "url": "https://glygen.org/publication/PubMed/8015379" } ] }, { "title": "Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.", "journal": "Investigative ophthalmology & visual science", "date": "1994", "authors": "Rosas DJ, Roman AJ, Weissbrod P, Macke JP, Nathans J", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8045708", "url": "https://glygen.org/publication/PubMed/8045708" } ] }, { "title": "Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.", "journal": "Human genetics", "date": "1994", "authors": "Reig C, Antich J, Gean E, Garcia-Sandoval B, Ramos C, Ayuso C, Carballo M", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8076945", "url": "https://glygen.org/publication/PubMed/8076945" } ] }, { "title": "Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.", "journal": "Human mutation", "date": "1994", "authors": "al-Maghtheh M, Inglehearn C, Lunt P, Jay M, Bird A, Bhattacharya S", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8081400", "url": "https://glygen.org/publication/PubMed/8081400" } ] }, { "title": "Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.", "journal": "Genomics", "date": "1994-05-15", "authors": "Vaithinathan R, Berson E L, Dryja T P", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8088850", "url": "https://glygen.org/publication/PubMed/8088850" } ] }, { "title": "Localization of the retinal protonated Schiff base counterion in rhodopsin.", "journal": "Biophysical journal", "date": "1993", "authors": "Han M, DeDecker BS, Smith SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "8105993", "url": "https://glygen.org/publication/PubMed/8105993" } ] }, { "title": "Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.", "journal": "Nature", "date": "1994", "authors": "Rao VR, Cohen GB, Oprian DD", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8107847", "url": "https://glygen.org/publication/PubMed/8107847" } ] }, { "title": "A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "1993", "authors": "Sullivan LJ, Makris GS, Dickinson P, Mulhall LE, Forrest S, Cotton RG, Loughnan MS", "evidence": [ { "database": "dbSNP", "id": "rs104893786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893786" } ], "reference": [ { "type": "PubMed", "id": "8240107", "url": "https://glygen.org/publication/PubMed/8240107" } ] }, { "title": "Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.", "journal": "American journal of human genetics", "date": "1993", "authors": "Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al.", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8317502", "url": "https://glygen.org/publication/PubMed/8317502" } ] }, { "title": "Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.", "journal": "Human molecular genetics", "date": "1993", "authors": "Kranich H, Bartkowski S, Denton MJ, Krey S, Dickinson P, Duvigneau C, Gal A", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" }, { "database": "dbSNP", "id": "rs104893786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104893786" } ], "reference": [ { "type": "PubMed", "id": "8353500", "url": "https://glygen.org/publication/PubMed/8353500" } ] }, { "title": "Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.", "journal": "Nature genetics", "date": "1993", "authors": "Dryja TP, Berson EL, Rao VR, Oprian DD", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8358437", "url": "https://glygen.org/publication/PubMed/8358437" } ] }, { "title": "A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.", "journal": "Human mutation", "date": "1993", "authors": "Rodriguez J A, Herrera C A, Birch D G, Daiger S P", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8364589", "url": "https://glygen.org/publication/PubMed/8364589" } ] }, { "title": "Amplification and kinetics of the activation steps in phototransduction.", "journal": "Biochimica et biophysica acta", "date": "1993", "authors": "Pugh EN Jr, Lamb TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8382952", "url": "https://glygen.org/publication/PubMed/8382952" } ] }, { "title": "Rhodopsin mutations in autosomal dominant retinitis pigmentosa.", "journal": "Human mutation", "date": "1993", "authors": "al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8401533", "url": "https://glygen.org/publication/PubMed/8401533" } ] }, { "title": "Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.", "journal": "Genomics", "date": "1993-07", "authors": "Bunge S, Wedemann H, David D, Terwilliger D J, van den Born L I, Aulehla-Scholz C, Samanns C, Horn M, Ott J, Schwinger E", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8406457", "url": "https://glygen.org/publication/PubMed/8406457" } ] }, { "title": "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).", "journal": "Genomics", "date": "1993", "authors": "Morris TA, Fong SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "8406495", "url": "https://glygen.org/publication/PubMed/8406495" } ] }, { "title": "Characterization of recombinant human farnesyl-protein transferase: cloning, expression, farnesyl diphosphate binding, and functional homology with yeast prenyl-protein transferases.", "journal": "Biochemistry", "date": "1993", "authors": "Omer CA, Kral AM, Diehl RE, Prendergast GC, Powers S, Allen CM, Gibbs JB, Kohl NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "8494894", "url": "https://glygen.org/publication/PubMed/8494894" } ] }, { "title": "Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice.", "journal": "Experimental eye research", "date": "1993", "authors": "Tao L, Pandey S, Simon MI, Fong HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8500562", "url": "https://glygen.org/publication/PubMed/8500562" } ] }, { "title": "Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.", "journal": "American journal of ophthalmology", "date": "1996", "authors": "Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8554077", "url": "https://glygen.org/publication/PubMed/8554077" } ] }, { "title": "Sequence analysis of the 5.34-kb 5' flanking region of the human rhodopsin-encoding gene.", "journal": "Gene", "date": "1995", "authors": "Bennett J, Sun D, Karik\u00f3 K", "evidence": [ { "database": "UniProtKB", "id": "P08100", "url": "https://www.uniprot.org/uniprot/P08100" } ], "reference": [ { "type": "PubMed", "id": "8566799", "url": "https://glygen.org/publication/PubMed/8566799" } ] }, { "title": "Structural and enzymatic aspects of rhodopsin phosphorylation.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Ohguro H, Rudnicka-Nawrot M, Buczylko J, Zhao X, Taylor JA, Walsh KA, Palczewski K", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "8617805", "url": "https://glygen.org/publication/PubMed/8617805" } ] }, { "title": "Characterization of the G protein-coupled receptor kinase GRK4. Identification of four splice variants.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Premont RT, Macrae AD, Stoffel RH, Chung N, Pitcher JA, Ambrose C, Inglese J, MacDonald ME, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "8626439", "url": "https://glygen.org/publication/PubMed/8626439" } ] }, { "title": "Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.", "journal": "Nature genetics", "date": "1996", "authors": "Dryja TP, Hahn LB, Reboul T, Arnaud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8673138", "url": "https://glygen.org/publication/PubMed/8673138" } ] }, { "title": "Calcium-activated opsin phosphatase activity in retinal rod outer segments.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Kutuzov MA, Bennett N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "8706659", "url": "https://glygen.org/publication/PubMed/8706659" } ] }, { "title": "Characterization and chromosomal localization of the gene for human rhodopsin kinase.", "journal": "Genomics", "date": "1996", "authors": "Khani SC, Abitbol M, Yamamoto S, Maravic-Magovcevic I, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8812493", "url": "https://glygen.org/publication/PubMed/8812493" } ] }, { "title": "Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.", "journal": "Genomics", "date": "1996", "authors": "Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "8884265", "url": "https://glygen.org/publication/PubMed/8884265" } ] }, { "title": "Molecular origin of continuous dark noise in rod photoreceptors.", "journal": "Biophysical journal", "date": "1996", "authors": "Rieke F, Baylor DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8913594", "url": "https://glygen.org/publication/PubMed/8913594" } ] }, { "title": "Identification of protein kinase C phosphorylation sites on bovine rhodopsin.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Greene NM, Williams DS, Newton AC", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "9099669", "url": "https://glygen.org/publication/PubMed/9099669" } ] }, { "title": "The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1).", "journal": "Genomics", "date": "1997", "authors": "Surguchov A, Bronson JD, Banerjee P, Knowles JA, Ruiz C, Subbaraya I, Palczewski K, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9119368", "url": "https://glygen.org/publication/PubMed/9119368" } ] }, { "title": "Rhodopsin phosphorylation sites and their role in arrestin binding.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Zhang L, Sports CD, Osawa S, Weiss ER", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "9169442", "url": "https://glygen.org/publication/PubMed/9169442" } ] }, { "title": "Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Sun H, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-419771", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419771" } ], "reference": [ { "type": "PubMed", "id": "9275222", "url": "https://glygen.org/publication/PubMed/9275222" } ] }, { "title": "High levels of rhodopsin phosphorylation in missense mutations of C-terminal region of rhodopsin.", "journal": "FEBS letters", "date": "1997", "authors": "Ohguro H", "evidence": [ { "database": "iPTMnet", "id": "P08100", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08100" } ], "reference": [ { "type": "PubMed", "id": "9303550", "url": "https://glygen.org/publication/PubMed/9303550" } ] }, { "title": "Human N-myristoyltransferase amino-terminal domain involved in targeting the enzyme to the ribosomal subcellular fraction.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Glover CJ, Hartman KD, Felsted RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9353336", "url": "https://glygen.org/publication/PubMed/9353336" } ] }, { "title": "Molecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC).", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Huang X, Honkanen RE", "evidence": [ { 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