{ "uniprot_canonical_ac": "P01286-1", "uniprot_ac": "P01286", "uniprot_id": "SLIB_HUMAN", "mass": { "chemical_mass": 12447.0, "monoisotopic_mass": 12447.0 }, "refseq": { "ac": "NP_001171660", "name": "somatoliberin isoform 2 preproprotein", "summary": "This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" }, "gene_names": [ { "name": "GHRH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01286", "id": "P01286" }, { "name": "GHRF; GRF; INN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660", "id": "NP_001171660" }, { "name": "GHRF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01286", "id": "P01286" }, { "name": "GHRH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660", "id": "NP_001171660" } ], "protein_names": [ { "name": "Somatoliberin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01286" }, { "name": "GHRH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01286" }, { "name": "GRF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01286" }, { "name": "Growth hormone-releasing factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01286" }, { "name": "Growth hormone-releasing hormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01286" }, { "name": "Somatocrinin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01286" }, { "name": "Somatorelin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01286" }, { "name": "somatoliberin isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660", "id": "NP_001171660" }, { "name": "somatoliberin; sermorelin; somatocrinin; somatorelin; growth hormone releasing factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660", "id": "NP_001171660" } ], "function": [ { "annotation": "A comprehensive contribution of genetic variations of the insulin-like growth factor 1 signalling pathway to stroke susceptibility.", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" }, { "database": "PubMed", "id": "32065979", "url": "https://glygen.org/publication/PubMed/32065979" } ] }, { "annotation": "Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" }, { "database": "PubMed", "id": "35566020", "url": "https://glygen.org/publication/PubMed/35566020" } ] }, { "annotation": "GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone.", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286#function" } ] }, { "annotation": "Structural basis for activation of the growth hormone-releasing hormone receptor. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" }, { "database": "PubMed", "id": "33060564", "url": "https://glygen.org/publication/PubMed/33060564" } ] }, { "annotation": "This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "47.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.06", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "29.82", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "27.79", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "31.13", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "28.55", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "26.86", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "17.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "30.32", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000118702", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118702" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01286", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01286" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "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 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"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", 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"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", 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Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A, Rockman HA, Koch WJ, Luttrell LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12036966", "url": "https://glygen.org/publication/PubMed/12036966" } ] }, { "title": "Mechanism of Galpha i-mediated inhibition of type V adenylyl cyclase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Dessauer CW, Chen-Goodspeed M, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12058044", "url": "https://glygen.org/publication/PubMed/12058044" } ] }, { "title": 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pharmacology", "date": "2003", "authors": "Zhang JY, Nawoschik S, Kowal D, Smith D, Spangler T, Ochalski R, Schechter L, Dunlop J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12860470", "url": "https://glygen.org/publication/PubMed/12860470" } ] }, { "title": "Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1992", "authors": "Mayo KE", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "1333056", "url": "https://glygen.org/publication/PubMed/1333056" } ] }, { "title": "Fractionation and characterization of a cyclic adenine ribonucleotide formed by tissue particles.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "SUTHERLAND EW, RALL TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "13549488", "url": "https://glygen.org/publication/PubMed/13549488" } ] }, { "title": "Insights into G protein structure, function, and regulation.", "journal": "Endocrine reviews", "date": "2003", "authors": "Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkova M, Preininger A, Mazzoni MR, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "14671004", "url": "https://glygen.org/publication/PubMed/14671004" } ] }, { "title": "Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Attramadal H, Arriza JL, Aoki C, Dawson TM, Codina J, Kwatra MM, Snyder SH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "1517224", "url": "https://glygen.org/publication/PubMed/1517224" } ] }, { "title": "Hepatic glucagon receptor binding and glucose-lowering in vivo by peptidyl and non-peptidyl glucagon receptor antagonists.", "journal": "European journal of pharmacology", "date": "2004", "authors": "Dallas-Yang Q, Shen X, Strowski M, Brady E, Saperstein R, Gibson RE, Szalkowski D, Qureshi SA, Candelore MR, Fenyk-Melody JE, Parmee ER, Zhang BB, Jiang G", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "15464082", "url": "https://glygen.org/publication/PubMed/15464082" } ] }, { "title": "The HeLa cell glucagon-like peptide-2 receptor is coupled to regulation of apoptosis and ERK1/2 activation through divergent signaling pathways.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2005", "authors": "Koehler JA, Yusta B, Drucker DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "15471943", "url": "https://glygen.org/publication/PubMed/15471943" } ] }, { "title": "Effects of piclamilast, a selective phosphodiesterase-4 inhibitor, on oxidative burst of sputum cells from mild asthmatics and stable COPD patients.", "journal": "Lung", "date": "2004", "authors": "Beeh KM, Beier J, Lerch C, Schulz AK, Buhl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15765929", "url": "https://glygen.org/publication/PubMed/15765929" } ] }, { "title": "Cyclic nucleotide phosphodiesterase-mediated integration of cGMP and cAMP signaling in cells of the cardiovascular system.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2005", "authors": "Maurice DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15769620", "url": "https://glygen.org/publication/PubMed/15769620" } ] }, { "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-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Preferential inhibition of human phosphodiesterase 4 by ibudilast.", "journal": "Life sciences", "date": "2006", "authors": "Huang Z, Liu S, Zhang L, Salem M, Greig GM, Chan CC, Natsumeda Y, Noguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16313925", "url": "https://glygen.org/publication/PubMed/16313925" } ] }, { "title": "G-protein-coupled receptor kinase specificity for beta-arrestin recruitment to the beta2-adrenergic receptor revealed by fluorescence resonance energy transfer.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Violin JD, Ren XR, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16687412", "url": "https://glygen.org/publication/PubMed/16687412" } ] }, { "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-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Phosphodiesterase 4 inhibitors for the treatment of asthma and COPD.", "journal": "Current medicinal chemistry", "date": "2006", "authors": "Huang Z, Mancini JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "17168849", "url": "https://glygen.org/publication/PubMed/17168849" } ] }, { "title": "Primary structure and characterization of the precursor to human pituitary adenylate cyclase activating polypeptide.", "journal": "DNA and cell biology", "date": "1992", "authors": "Ohkubo S, Kimura C, Ogi K, Okazaki K, Hosoya M, Onda H, Miyata A, Arimura A, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "1739432", "url": "https://glygen.org/publication/PubMed/1739432" } ] }, { "title": "PDE4 inhibitors as potential therapeutic agents in the treatment of COPD-focus on roflumilast.", "journal": "International journal of chronic obstructive pulmonary disease", "date": "2007", "authors": "Boswell-Smith V, Spina D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18044684", "url": "https://glygen.org/publication/PubMed/18044684" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "The efficacy and safety of cilomilast in COPD.", "journal": "Drugs", "date": "2008", "authors": "Rennard S, Knobil K, Rabe KF, Morris A, Schachter N, Locantore N, Canonica WG, Zhu Y, Barnhart F", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19105585", "url": "https://glygen.org/publication/PubMed/19105585" } ] }, { "title": "AN-2728, a PDE4 inhibitor for the potential topical treatment of psoriasis and atopic dermatitis.", "journal": "Current opinion in investigational drugs (London, England : 2000)", "date": "2009", "authors": "Nazarian R, Weinberg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19876791", "url": "https://glygen.org/publication/PubMed/19876791" } ] }, { "title": "Ibudilast: a review of its pharmacology, efficacy and safety in respiratory and neurological disease.", "journal": "Expert opinion on pharmacotherapy", "date": "2009", "authors": "Rolan P, Hutchinson M, Johnson K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19929708", "url": "https://glygen.org/publication/PubMed/19929708" } ] }, { "title": "The preclinical pharmacology of roflumilast--a selective, oral phosphodiesterase 4 inhibitor in development for chronic obstructive pulmonary disease.", "journal": "Pulmonary pharmacology & therapeutics", "date": "2010", "authors": "Hatzelmann A, Morcillo EJ, Lungarella G, Adnot S, Sanjar S, Beume R, Schudt C, Tenor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "20381629", "url": "https://glygen.org/publication/PubMed/20381629" } ] }, { "title": "Ibudilast, a mixed PDE3/4 inhibitor, causes a selective and nitric oxide/cGMP-independent relaxation of the intracranial vertebrobasilar artery.", "journal": "European journal of pharmacology", "date": "2011", "authors": "Yamazaki T, Anraku T, Matsuzawa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "21036126", "url": "https://glygen.org/publication/PubMed/21036126" } ] }, { "title": "beta-Arrestin: a protein that regulates beta-adrenergic receptor function.", "journal": "Science (New York, N.Y.)", "date": "1990", "authors": "Lohse MJ, Benovic JL, Codina J, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2163110", "url": "https://glygen.org/publication/PubMed/2163110" } ] }, { "title": "Comparative inhibition of the GH/IGF-I axis obtained with either the targeted secretion inhibitor SXN101959 or the somatostatin analog octreotide in growing male rats.", "journal": "Endocrinology", "date": "2013", "authors": "Somm Emmanuel, Bonnet Nicolas, Zizzari Philippe, Tolle Virginie, Toulotte Audrey, Jones Richard, Epelbaum Jacques, Martinez Alberto, H\u00fcppi Petra S, Aubert Michel L", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "24029240", "url": "https://glygen.org/publication/PubMed/24029240" } ] }, { "title": "Pharmacology of the bipyridines: amrinone and milrinone.", "journal": "Circulation", "date": "1986", "authors": "Alousi AA, Johnson DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2417744", "url": "https://glygen.org/publication/PubMed/2417744" } ] }, { "title": "Advances in targeting cyclic nucleotide phosphodiesterases.", "journal": "Nature reviews. Drug discovery", "date": "2014", "authors": "Maurice DH, Ke H, Ahmad F, Wang Y, Chung J, Manganiello VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "24687066", "url": "https://glygen.org/publication/PubMed/24687066" } ] }, { "title": "Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Graziano MP, Freissmuth M, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2491850", "url": "https://glygen.org/publication/PubMed/2491850" } ] }, { "title": "Pharmacology of positive inotropic phosphodiesterase III inhibitors.", "journal": "European heart journal", "date": "1989", "authors": "Honerjager P", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553411", "url": "https://glygen.org/publication/PubMed/2553411" } ] }, { "title": "Multiple signaling pathways of histamine H2 receptors. Identification of an H2 receptor-dependent Ca2+ mobilization pathway in human HL-60 promyelocytic leukemia cells.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Mitsuhashi M, Mitsuhashi T, Payan DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553705", "url": "https://glygen.org/publication/PubMed/2553705" } ] }, { "title": "Structural analysis of Clostridium botulinum neurotoxin type D as a platform for the development of targeted secretion inhibitors.", "journal": "Sci. Rep.", "date": "2015", "authors": "Masuyer Geoffrey, Davies Jonathan R, Moore Kevin, Chaddock John A, Ravi Acharya K", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "26324071", "url": "https://glygen.org/publication/PubMed/26324071" } ] }, { "title": "Pentoxifylline for intermittent claudication.", "journal": "The Cochrane database of systematic reviews", "date": "2015", "authors": "Salhiyyah K, Forster R, Senanayake E, Abdel-Hadi M, Booth A, Michaels JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "26417854", "url": "https://glygen.org/publication/PubMed/26417854" } ] }, { "title": "Identification of the lesion in the stimulatory GTP-binding protein of the uncoupled S49 lymphoma.", "journal": "FEBS letters", "date": "1987", "authors": "Rall T, Harris BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "2826231", "url": "https://glygen.org/publication/PubMed/2826231" } ] }, { "title": "Solution conformations of human growth hormone releasing factor: comparison of the restrained molecular dynamics and distance geometry methods for a system without long-range distance data.", "journal": "Protein Eng.", "date": "1987", "authors": "Brunger AT, Clore GM, Gronenborn AM, Karplus M", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "2854259", "url": "https://glygen.org/publication/PubMed/2854259" } ] }, { "title": "Beta-adrenergic receptor kinase: identification of a novel protein kinase that phosphorylates the agonist-occupied form of the receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Benovic JL, Strasser RH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2871555", "url": "https://glygen.org/publication/PubMed/2871555" } ] }, { "title": "Effect and safety of roflumilast for chronic obstructive pulmonary disease in Chinese patients.", "journal": "Medicine", "date": "2018", "authors": "Liu DY, Wang ZG, Gao Y, Zhang HM, Zhang YX, Wang XJ, Peng D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29443750", "url": "https://glygen.org/publication/PubMed/29443750" } ] }, { "title": "Use of cilomilast-loaded phosphatiosomes to suppress neutrophilic inflammation for attenuating acute lung injury: the effect of nanovesicular surface charge.", "journal": "Journal of nanobiotechnology", "date": "2018", "authors": "Liu FC, Yu HP, Lin CY, Elzoghby AO, Hwang TL, Fang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29602314", "url": "https://glygen.org/publication/PubMed/29602314" } ] }, { "title": "Solution structure of human growth hormone releasing factor. Combined use of circular dichroism and nuclear magnetic resonance spectroscopy.", "journal": "J. Mol. Biol.", "date": "1986", "authors": "Clore G M, Martin S R, Gronenborn A M", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "3029387", "url": "https://glygen.org/publication/PubMed/3029387" } ] }, { "title": "IL-12/IL-23p40 identified as a downstream target of apremilast in ex vivo models of arthritis.", "journal": "Therapeutic advances in musculoskeletal disease", "date": "2019", "authors": "Kragstrup TW, Adams M, Lomholt S, Nielsen MA, Heftdal LD, Schafer P, Deleuran B", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "30833991", "url": "https://glygen.org/publication/PubMed/30833991" } ] }, { "title": "Isolation and characterization of the human Gs alpha gene.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Kozasa T, Itoh H, Tsukamoto T, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "3127824", "url": "https://glygen.org/publication/PubMed/3127824" } ] }, { "title": "Crisaborole 2% ointment for the treatment of intertriginous, anogenital, and facial psoriasis: A double-blind, randomized, vehicle-controlled trial.", "journal": "Journal of the American Academy of Dermatology", "date": "2020", "authors": "Hashim PW, Chima M, Kim HJ, Bares J, Yao CJ, Singer G, Chen T, Genece J, Baum D, Kimmel GW, Nia JK, Gagliotti M, Lebwohl MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31279028", "url": "https://glygen.org/publication/PubMed/31279028" } ] }, { "title": "Effect of the inhaled PDE4 inhibitor CHF6001 on biomarkers of inflammation in COPD.", "journal": "Respiratory research", "date": "2019", "authors": "Singh D, Beeh KM, Colgan B, Kornmann O, Leaker B, Watz H, Lucci G, Geraci S, Emirova A, Govoni M, Nandeuil MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31399091", "url": "https://glygen.org/publication/PubMed/31399091" } ] }, { "title": "Simple assessment of quality of life and lower limb functional capacity during cilostazol treatment - results of the SHort-tERm cIlostazol eFFicacy and quality of life (SHERIFF) study.", "journal": "VASA. Zeitschrift fur Gefasskrankheiten", "date": "2020", "authors": "Farkas K, Kolossvary E, Jarai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31983287", "url": "https://glygen.org/publication/PubMed/31983287" } ] }, { "title": "A comprehensive contribution of genetic variations of the insulin-like growth factor 1 signalling pathway to stroke susceptibility.", "journal": "Atherosclerosis", "date": "2020", "authors": "Yao Y, Zhu H, Zhu L, Fang Z, Fan Y, Liu C, Tian Y, Chen Y, Tang W, Ren Z, Li J, Yang S, Chen Y, Zhao X, Shen C", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" } ], "reference": [ { "type": "PubMed", "id": "32065979", "url": "https://glygen.org/publication/PubMed/32065979" } ] }, { "title": "Inhaled Phosphodiesterase 4 (PDE4) Inhibitors for Inflammatory Respiratory Diseases.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Phillips JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32226383", "url": "https://glygen.org/publication/PubMed/32226383" } ] }, { "title": "Commentary: Phosphodiesterase 4 inhibitors as potential adjunct treatment targeting the cytokine storm in COVID-19.", "journal": "Metabolism: clinical and experimental", "date": "2020", "authors": "Dalamaga M, Karampela I, Mantzoros CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32497535", "url": "https://glygen.org/publication/PubMed/32497535" } ] }, { "title": "Repositioning of pentoxifylline as an immunomodulator and regulator of the renin-angiotensin system in the treatment of COVID-19.", "journal": "Medical hypotheses", "date": "2020", "authors": "Maldonado V, Loza-Mejia MA, Chavez-Alderete J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32540603", "url": "https://glygen.org/publication/PubMed/32540603" } ] }, { "title": "COVID-19 patients with psoriasis and psoriatic arthritis on biologic immunosuppressant therapy vs apremilast in North Spain.", "journal": "Dermatologic therapy", "date": "2020", "authors": "Queiro Silva R, Armesto S, Gonzalez Vela C, Naharro Fernandez C, Gonzalez-Gay MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32618402", "url": "https://glygen.org/publication/PubMed/32618402" } ] }, { "title": "Hypothesis: Pentoxifylline is a potential cytokine modulator therapeutic in COVID-19 patients.", "journal": "Pharmacology research & perspectives", "date": "2020", "authors": "Hendry BM, Stafford N, Arnold AD, Sangwaiya A, Manglam V, Rosen SD, Arnold J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32715661", "url": "https://glygen.org/publication/PubMed/32715661" } ] }, { "title": "Pentoxifylline: A Drug with Antiviral and Anti-Inflammatory Effects to Be Considered in the Treatment of Coronavirus Disease 2019.", "journal": "Medical principles and practice : international journal of the Kuwait University, Health Science Centre", "date": "2021", "authors": "Ghasemnejad-Berenji M, Pashapour S, Sadeghpour S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "33049737", "url": "https://glygen.org/publication/PubMed/33049737" } ] }, { "title": "Structural basis for activation of the growth hormone-releasing hormone receptor.", "journal": "Nature communications", "date": "2020", "authors": "Zhou F, Zhang H, Cong Z, Zhao LH, Zhou Q, Mao C, Cheng X, Shen DD, Cai X, Ma C, Wang Y, Dai A, Zhou Y, Sun W, Zhao F, Zhao S, Jiang H, Jiang Y, Yang D, Eric Xu H, Zhang Y, Wang MW", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" } ], "reference": [ { "type": "PubMed", "id": "33060564", "url": "https://glygen.org/publication/PubMed/33060564" } ] }, { "title": "Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.", "journal": "Molecules (Basel, Switzerland)", "date": "2022", "authors": "Szabo Z, Juhasz E, Schally AV, Dezso B, Huga S, Hernadi Z, Halmos G, Kiss C", "evidence": [ { "database": "RefSeq", "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660" } ], "reference": [ { "type": "PubMed", "id": "35566020", "url": "https://glygen.org/publication/PubMed/35566020" } ] }, { "title": "Structure of the human vasoactive intestinal polypeptide gene.", "journal": "DNA (Mary Ann Liebert, Inc.)", "date": "1985", "authors": "Tsukada T, Horovitch SJ, Montminy MR, Mandel G, Goodman RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "3899557", "url": "https://glygen.org/publication/PubMed/3899557" } ] }, { "title": "Gene encoding human growth hormone-releasing factor precursor: structure, sequence, and chromosomal assignment.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1985", "authors": "Mayo K E, Cerelli G M, Lebo R V, Bruce B D, Rosenfeld M G, Evans R M", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "3918305", "url": "https://glygen.org/publication/PubMed/3918305" } ] }, { "title": "The new inotropic phosphodiesterase inhibitors.", "journal": "Archives internationales de physiologie et de biochimie", "date": "1984", "authors": "el Allaf D, D'Orio V, Carlier J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "6085243", "url": "https://glygen.org/publication/PubMed/6085243" } ] }, { "title": "Cloning and sequence analysis of cDNA for the precursor of human growth hormone-releasing factor, somatocrinin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1983", "authors": "Gubler U, Monahan JJ, Lomedico PT, Bhatt RS, Collier KJ, Hoffman BJ, Bohlen P, Esch F, Ling N, Zeytin F, Brazeau P, Poonian MS, Gage LP", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" }, { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "6192430", "url": "https://glygen.org/publication/PubMed/6192430" } ] }, { "title": "Expression-cloning and sequence of a cDNA encoding human growth hormone-releasing factor.", "journal": "Nature", "date": "1983", "authors": "Mayo K E, Vale W, Rivier J, Rosenfeld M G, Evans R M", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "6415488", "url": "https://glygen.org/publication/PubMed/6415488" } ] }, { "title": "The isolation and sequencing of human gastric inhibitory peptide (GIP).", "journal": "FEBS letters", "date": "1984", "authors": "Moody AJ, Thim L, Valverde I", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "6745415", "url": "https://glygen.org/publication/PubMed/6745415" } ] }, { "title": "Growth hormone-releasing factor from a human pancreatic tumor that caused acromegaly.", "journal": "Science (New York, N.Y.)", "date": "1982", "authors": "Guillemin R, Brazeau P, Bohlen P, Esch F, Ling N, Wehrenberg WB", "evidence": [ { "database": "UniProtKB", "id": "P01286", "url": "https://www.uniprot.org/uniprot/P01286" } ], "reference": [ { "type": "PubMed", "id": "6812220", "url": "https://glygen.org/publication/PubMed/6812220" } ] }, { "title": "Molecular cloning, functional expression, and signal transduction of the GIP-receptor cloned from a human insulinoma.", "journal": "FEBS letters", "date": "1995", "authors": "Volz A, Goke R, Lankat-Buttgereit B, Fehmann HC, Bode HP, Goke B", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "7589426", "url": "https://glygen.org/publication/PubMed/7589426" } ] }, { "title": "Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1993", "authors": "Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "7680413", "url": "https://glygen.org/publication/PubMed/7680413" } ] }, { "title": "Molecular cloning and expression of a human secretin receptor.", "journal": "Molecular pharmacology", "date": "1995", "authors": "Patel DR, Kong Y, Sreedharan SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "7700244", "url": "https://glygen.org/publication/PubMed/7700244" } ] }, { "title": "Molecular cloning and functional characterization of a human VIP receptor from SUP-T1 lymphoblasts.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Svoboda M, Tastenoy M, Van Rampelbergh J, Goossens JF, De Neef P, Waelbroeck M, Robberecht P", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "7811244", "url": "https://glygen.org/publication/PubMed/7811244" } ] }, { "title": "Molecular cloning and functional expression of a cDNA encoding a human pituitary adenylate cyclase activating polypeptide receptor.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Ogi K, Miyamoto Y, Masuda Y, Habata Y, Hosoya M, Ohtaki T, Masuo Y, Onda H, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "7902709", "url": "https://glygen.org/publication/PubMed/7902709" } ] }, { "title": "The human glucagon receptor encoding gene: structure, cDNA sequence and chromosomal localization.", "journal": "Gene", "date": "1994", "authors": "Lok S, Kuijper JL, Jelinek LJ, Kramer JM, Whitmore TE, Sprecher CA, Mathewes S, Grant FJ, Biggs SH, Rosenberg GB, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "8144028", "url": "https://glygen.org/publication/PubMed/8144028" } ] }, { "title": "Polypeptide variants of beta-arrestin and arrestin3.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sterne-Marr R, Gurevich VV, Goldsmith P, Bodine RC, Sanders C, Donoso LA, Benovic JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8340388", "url": "https://glygen.org/publication/PubMed/8340388" } ] }, { "title": "Cloning and functional expression of a human neuroendocrine vasoactive intestinal peptide receptor.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Sreedharan SP, Patel DR, Huang JX, Goetzl EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-420092", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-420092" } ], "reference": [ { "type": "PubMed", "id": "8390245", "url": "https://glygen.org/publication/PubMed/8390245" } ] }, { "title": "Phosphorylation and desensitization of human m2 muscarinic cholinergic receptors by two isoforms 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