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[] } ] }, { "title": "Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.", "journal": "Movement disorders : official journal of the Movement Disorder Society", "date": "2016", "authors": "Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Moghadam A, Arzenani MK, Keramatian F, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E", "reference": { "type": "PubMed", "id": "27134041", "url": "https://pubmed.ncbi.nlm.nih.gov/27134041" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6GMV3-1", "protein_name": "Putative peptidyl-tRNA hydrolase PTRHD1", "gene_name": "PTRHD1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30542-1", "protein_name": "Adenosine receptor A1", "gene_name": "ADORA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6GMV3", "url": "https://www.uniprot.org/uniprotkb/Q6GMV3" } ], "common_name": 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"journal": "Protein expression and purification", "date": "2016", "authors": "Burks GL, McFeeters H, McFeeters RL", "reference": { "type": "PubMed", "id": "27235175", "url": "https://pubmed.ncbi.nlm.nih.gov/27235175" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6GMV3-1", "protein_name": "Putative peptidyl-tRNA hydrolase PTRHD1", "gene_name": "PTRHD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6GMV3", "url": "https://www.uniprot.org/uniprotkb/Q6GMV3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27235175", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", 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[] } ] }, { "title": "Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.", "journal": "Clin. 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"Distinct t(7;9)(q34;q32) breakpoints in healthy individuals and individuals with T-ALL.", "journal": "Nature genetics", "date": "2003", "authors": "Marculescu R, Vanura K, Le T, Simon P, Jager U, Nadel B", "reference": { "type": "PubMed", "id": "12567187", "url": "https://pubmed.ncbi.nlm.nih.gov/12567187" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16559-1", "protein_name": "T-cell acute lymphocytic leukemia protein 2", "gene_name": "TAL2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16559", "url": "https://www.uniprot.org/uniprotkb/Q16559" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12567187", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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stimulation of endothelial cells with histamine.", "journal": "FEBS Lett.", "date": "2000", "authors": "Schafer U, Seibold S, Schneider A, Neugebauer E", "reference": { "type": "PubMed", "id": "10648831", "url": "https://pubmed.ncbi.nlm.nih.gov/10648831" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NP72-1", "protein_name": "Ras-related protein Rab-18", "gene_name": "RAB18", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP72", "url": "https://www.uniprot.org/uniprotkb/Q9NP72" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10648831", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cloning and characterization of a novel splice variant of human Rab18 gene (RAB18).", "journal": "DNA Seq.", "date": "2005", "authors": "Dou Tonghai, Ji Chaoneng, Gu Shaohua, Chen Fei, Xu Jiaxi, Ye Xin, Ying Kang, Xie Yi, Mao Yumin", "reference": { "type": "PubMed", "id": "16147880", "url": "https://pubmed.ncbi.nlm.nih.gov/16147880" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NP72-1", "protein_name": "Ras-related protein Rab-18", "gene_name": "RAB18", "tax_name": 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V-set and immunoglobulin domain-containing 4 (VSIG4) to involve in the apoptosis of glioma and the sensitivity to temozolomide.", "journal": "Bioengineered", "date": "2021", "authors": "Yang K, Wang Z", "reference": { "type": "PubMed", "id": "33904378", "url": "https://pubmed.ncbi.nlm.nih.gov/33904378" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NP72-1", "protein_name": "Ras-related protein Rab-18", "gene_name": "RAB18", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NP72", "url": "https://www.uniprot.org/uniprotkb/Q9NP72" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33904378", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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[] } ] }, { "title": "Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.", "journal": "Investigative ophthalmology & visual science", "date": "2022", "authors": "Wang J, Wang Y, Li S, Xiao X, Yi Z, Jiang Y, Li X, Jia X, Wang P, Jin C, Sun W, Zhang Q", "reference": { "type": "PubMed", "id": "35994252", "url": "https://pubmed.ncbi.nlm.nih.gov/35994252" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96NR8-1", "protein_name": "Retinol dehydrogenase 12", "gene_name": "RDH12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96NR8", "url": "https://www.uniprot.org/uniprotkb/Q96NR8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35994252", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": 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