{ "uniprot_canonical_ac": "O95972-1", "uniprot_ac": "O95972", "uniprot_id": "BMP15_HUMAN", "mass": { "chemical_mass": 45055.0, "monoisotopic_mass": 45055.0 }, "refseq": { "ac": "NP_005439", "name": "bone morphogenetic protein 15 preproprotein", "summary": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" }, "gene_names": [ { "name": "BMP15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95972", "id": "O95972" }, { "name": "BMP15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439", "id": "NP_005439" }, { "name": "GDF9B; ODG2; POF4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439", "id": "NP_005439" }, { "name": "GDF9B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95972", "id": "O95972" } ], "protein_names": [ { "name": "Bone morphogenetic protein 15", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95972" }, { "name": "BMP-15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95972" }, { "name": "GDF-9B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95972" }, { "name": "Growth/differentiation factor 9B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95972" }, { "name": "bone morphogenetic protein 15 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439", "id": "NP_005439" }, { "name": "growth/differentiation factor 9B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439", "id": "NP_005439" } ], "function": [ { "annotation": "Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" }, { "database": "PubMed", "id": "34187539", "url": "https://glygen.org/publication/PubMed/34187539" } ] }, { "annotation": "Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" }, { "database": "PubMed", "id": "36689045", "url": "https://glygen.org/publication/PubMed/36689045" } ] }, { "annotation": "Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" }, { "database": "PubMed", "id": "35861920", "url": "https://glygen.org/publication/PubMed/35861920" } ] }, { "annotation": "May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth.", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972#function" }, { "database": "PubMed", "id": "18227435", "url": "https://glygen.org/publication/PubMed/18227435" } ] }, { "annotation": "Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" }, { "database": "PubMed", "id": "35232444", "url": "https://glygen.org/publication/PubMed/35232444" } ] }, { "annotation": "Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" }, { "database": "PubMed", "id": "36372988", "url": "https://glygen.org/publication/PubMed/36372988" } ] }, { "annotation": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" } ] } ], "disease": [ { "disease_id": "DOID:0080861", "recommended_name": { "id": "DOID:0080861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080861", "name": "primary ovarian insufficiency 4", "description": "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11." }, "synonyms": [ { "id": "MONDO:0010349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010349", "name": "ovarian dysgenesis 2", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." }, { "id": "MONDO:0010349", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010349", "name": "BMP15 primary ovarian failure", "description": "" }, { "id": "MONDO:0010349", "resource": "MONDO", 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"MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKPRLLGHSLRYMLELYRRSADSHGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNPTNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTSSLDIAFLLLYFNDTHKSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYCKGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR", "length": 392, "header": "sp|O95972-1|BMP15_HUMAN Isoform 1 of Bone morphogenetic protein 15 OS=Homo sapiens OX=9606 GN=BMP15 PE=1 SV=2 CANONICAL=O95972-1" }, "isoforms": [ { "isoform_ac": "O95972-1", "url": "", "sequence": { "sequence": "MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKPRLLGHSLRYMLELYRRSADSHGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSCHVEPWVQKNPTNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTSSLDIAFLLLYFNDTHKSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISFRQLGWDHWIIAPPFYTPNYCKGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGSILYKEYEGMIAESCTCR", "length": 392, "header": "sp|O95972-1|BMP15_HUMAN Isoform 1 of Bone morphogenetic protein 15 OS=Homo sapiens OX=9606 GN=BMP15 PE=1 SV=2 CANONICAL=O95972-1" }, "locus": { "chromosome": "X", "start_pos": 50916604, "end_pos": 50910784, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252677.4", "url": "https://www.ensembl.org/id/ENST00000252677.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000252677.3", "url": "https://www.ensembl.org/id/ENSP00000252677.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "O95972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95972#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 237, "start_aa": "Asn", "end_pos": 237, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn237", "evidence": [ { "id": "O95972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95972#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "Other", "site_category": "reported", "site_seq": "T", "relation": "attached", "comment": "O-linked (HexNAc...) threonine; in P17 Other", "start_pos": 277, "start_aa": "Thr", "end_pos": 277, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr277", "evidence": [ { "id": "O95972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95972#ptm_processing" }, { "id": "18227435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18227435" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 373, "start_aa": "Asn", "end_pos": 373, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn373", "evidence": [ { "id": "O95972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95972#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 87, "start_aa": "Asn", "end_pos": 87, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn87", "evidence": [ { "id": "O95972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95972#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 273, "end_pos": 273, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; in P16", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" }, { "database": "iPTMnet", "id": "O95972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95972" }, { "database": "PubMed", "id": "18227435", "url": "https://glygen.org/publication/PubMed/18227435" } ], "site_lbl": "Ser273" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10077652", "url": "https://glygen.org/publication/PubMed/10077652" } ] }, { "title": "The cleavage site specificity of human prostate specific antigen for insulin-like growth factor binding protein-3.", "journal": "FEBS letters", "date": "1999", "authors": "Okabe E, Kajihara J, Usami Y, Hirano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10218588", "url": "https://glygen.org/publication/PubMed/10218588" } ] }, { "title": "Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis.", "journal": "J. Clin. Endocrinol. Metab.", "date": "1999", "authors": "Aaltonen J, Laitinen MP, Vuojolainen K, Jaatinen R, Horelli-Kuitunen N, Seppa L, Louhio H, Tuuri T, Sjoberg J, Butzow R, Hovata O, Dale L, Ritvos O", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "10443672", "url": "https://glygen.org/publication/PubMed/10443672" } ] }, { "title": "Inflammation-related neutrophil proteases, cathepsin G and elastase, function as insulin-like growth factor binding protein proteases.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1999", "authors": "Gibson TL, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10512690", "url": "https://glygen.org/publication/PubMed/10512690" } ] }, { "title": "A central domain binding site in insulin-like growth factor binding protein-5 for the acid-labile subunit.", "journal": "Endocrinology", "date": "2000", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10614670", "url": "https://glygen.org/publication/PubMed/10614670" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP)-3-bound IGF-I and IGFBP-3-bound IGF-II in growth hormone deficiency.", "journal": "Hormone research", "date": "1999", "authors": "Belgorosky A, Rivarola MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10681634", "url": "https://glygen.org/publication/PubMed/10681634" } ] }, { "title": "Binding characteristics of pro-insulin-like growth factor-II from cancer patients: binary and ternary complex formation with IGF binding proteins-1 to -6.", "journal": "The Journal of endocrinology", "date": "2000", "authors": "Bond JJ, Meka S, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10810289", "url": "https://glygen.org/publication/PubMed/10810289" } ] }, { "title": "Evidence that the interaction between insulin-like growth factor (IGF)-II and IGF binding protein (IGFBP)-4 is essential for the action of the IGF-II-dependent IGFBP-4 protease.", "journal": "Archives of biochemistry and biophysics", "date": "2000", "authors": "Qin X, Byun D, Lau KH, Baylink DJ, Mohan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10898936", "url": "https://glygen.org/publication/PubMed/10898936" } ] }, { "title": "Effects of IGFBP-2 overexpression in vitro and in vivo.", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "2000", "authors": "Wolf E, Lahm H, Wu M, Wanke R, Hoeflich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10912521", "url": "https://glygen.org/publication/PubMed/10912521" } ] }, { "title": "O-glycosylation of insulin-like growth factor (IGF) binding protein-6 maintains high IGF-II binding affinity by decreasing binding to glycosaminoglycans and susceptibility to proteolysis.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Marinaro JA, Neumann GM, Russo VC, Leeding KS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10951195", "url": "https://glygen.org/publication/PubMed/10951195" } ] }, { "title": "Prostate carcinoma (PC-3) cell proliferation is stimulated by the 22-25-kDa proteolytic fragment (1-160) and inhibited by the 16-kDa fragment (1-95) of recombinant human insulin-like growth factor binding protein-3.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1998", "authors": "Angelloz-Nicoud P, Lalou C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10990447", "url": "https://glygen.org/publication/PubMed/10990447" } ] }, { "title": "Pregnancy-associated plasma protein-A accounts for the insulin-like growth factor (IGF)-binding protein-4 (IGFBP-4) proteolytic activity in human pregnancy serum and enhances the mitogenic activity of IGF by degrading IGFBP-4 in vitro.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Byun D, Mohan S, Yoo M, Sexton C, Baylink DJ, Qin X", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11158056", "url": "https://glygen.org/publication/PubMed/11158056" } ] }, { "title": "Ligand-binding characteristics of recombinant amino- and carboxyl-terminal fragments of human insulin-like growth factor-binding protein-3.", "journal": "The Journal of endocrinology", "date": "2001", "authors": "Galanis M, Firth SM, Bond J, Nathanielsz A, Kortt AA, Hudson PJ, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11250653", "url": "https://glygen.org/publication/PubMed/11250653" } ] }, { "title": "Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Overgaard MT, Boldt HB, Laursen LS, Sottrup-Jensen L, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11264294", "url": "https://glygen.org/publication/PubMed/11264294" } ] }, { "title": "Mutagenesis of basic amino acids in the carboxyl-terminal region of insulin-like growth factor binding protein-5 affects acid-labile subunit binding.", "journal": "Endocrinology", "date": "2001", "authors": "Firth SM, Clemmons DR, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11316783", "url": "https://glygen.org/publication/PubMed/11316783" } ] }, { "title": "Pregnancy-associated plasma protein-A (PAPP-A) cleaves insulin-like growth factor binding protein (IGFBP)-5 independent of IGF: implications for the mechanism of IGFBP-4 proteolysis by PAPP-A.", "journal": "FEBS letters", "date": "2001", "authors": "Laursen LS, Overgaard MT, Soe R, Boldt HB, Sottrup-Jensen L, Giudice LC, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11522292", "url": "https://glygen.org/publication/PubMed/11522292" } ] }, { "title": "Insulin-like growth factor-binding protein-5 inhibits growth and induces differentiation of mouse osteosarcoma cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Schneider MR, Zhou R, Hoeflich A, Krebs O, Schmidt J, Mohan S, Wolf E, Lahm H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11606061", "url": "https://glygen.org/publication/PubMed/11606061" } ] }, { "title": "IGFBP-3 binding to endothelial cells inhibits plasmin and thrombin proteolysis.", "journal": "American journal of physiology. Endocrinology and metabolism", "date": "2002", "authors": "Booth BA, Boes M, Dake BL, Knudtson KL, Bar RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11739083", "url": "https://glygen.org/publication/PubMed/11739083" } ] }, { "title": "Insulin-like growth factor-binding protein 2 in tumorigenesis: protector or promoter?", "journal": "Cancer research", "date": "2001", "authors": "Hoeflich A, Reisinger R, Lahm H, Kiess W, Blum WF, Kolb HJ, Weber MM, Wolf E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11751371", "url": "https://glygen.org/publication/PubMed/11751371" } ] }, { "title": "Molecular distribution of IGF binding protein-5 in human serum.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Baxter RC, Meka S, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11788658", "url": "https://glygen.org/publication/PubMed/11788658" } ] }, { "title": "Substrate specificity of the metalloproteinase pregnancy-associated plasma protein-A (PAPP-A) assessed by mutagenesis and analysis of synthetic peptides: substrate residues distant from the scissile bond are critical for proteolysis.", "journal": "The Biochemical journal", "date": "2002", "authors": "Laursen LS, Overgaard MT, Nielsen CG, Boldt HB, Hopmann KH, Conover CA, Sottrup-Jensen L, Giudice LC, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12241545", "url": "https://glygen.org/publication/PubMed/12241545" } ] }, { "title": "IGF-binding proteins are multifunctional and act via IGF-dependent and -independent mechanisms.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Mohan S, Baylink DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12379487", "url": "https://glygen.org/publication/PubMed/12379487" } ] }, { "title": "Cellular actions of the insulin-like growth factor binding proteins.", "journal": "Endocrine reviews", "date": "2002", "authors": "Firth SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12466191", "url": "https://glygen.org/publication/PubMed/12466191" } ] }, { "title": "Amino- and carboxyl-terminal fragments of insulin-like growth factor (IGF) binding protein-3 cooperate to bind IGFs with high affinity and inhibit IGF receptor interactions.", "journal": "Endocrinology", "date": "2003", "authors": "Payet LD, Wang XH, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12810533", "url": "https://glygen.org/publication/PubMed/12810533" } ] }, { "title": "IGF-binding protein-4: biochemical characteristics and functional consequences.", "journal": "The Journal of endocrinology", "date": "2003", "authors": "Zhou R, Diehl D, Hoeflich A, Lahm H, Wolf E", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "12904166", "url": "https://glygen.org/publication/PubMed/12904166" } ] }, { "title": "Structural determinants for binary and ternary complex formation between insulin-like growth factor-I (IGF-I) and IGF binding protein-3.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Baxter RC, Bayne ML, Cascieri MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "1370451", "url": "https://glygen.org/publication/PubMed/1370451" } ] }, { "title": "Prostate-specific antigen (PSA) is an insulin-like growth factor binding protein-3 protease found in seminal plasma.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Cohen P, Graves HC, Peehl DM, Kamarei M, Giudice LC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "1383255", "url": "https://glygen.org/publication/PubMed/1383255" } ] }, { "title": "The role of the acid-labile subunit in regulating insulin-like growth factor transport across human umbilical vein endothelial cell monolayers.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Payet LD, Firth SM, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15126567", "url": "https://glygen.org/publication/PubMed/15126567" } ] }, { "title": "Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene.", "journal": "American journal of human genetics", "date": "2004", "authors": "Di Pasquale E, Beck-Peccoz P, Persani L", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "15136966", "url": "https://glygen.org/publication/PubMed/15136966" } ] }, { "title": "C-terminal domain of insulin-like growth factor (IGF) binding protein-6: structure and interaction with IGF-II.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2004", "authors": "Headey SJ, Keizer DW, Yao S, Brasier G, Kantharidis P, Bach LA, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15308688", "url": "https://glygen.org/publication/PubMed/15308688" } ] }, { "title": "Characterization of insulin-like growth factor-free interaction between insulin-like growth factor binding protein 3 and acid labile subunit expressed from Xenopus oocytes.", "journal": "Journal of biochemistry and molecular biology", "date": "2004", "authors": "Choi KY, Kyung YJ, Lee CY, Lee DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15469690", "url": "https://glygen.org/publication/PubMed/15469690" } ] }, { "title": "Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yan X, Forbes BE, McNeil KA, Baxter RC, Firth SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15485880", "url": "https://glygen.org/publication/PubMed/15485880" } ] }, { "title": "Contributions of the N- and C-terminal domains of IGF binding protein-6 to IGF binding.", "journal": "Journal of molecular endocrinology", "date": "2004", "authors": "Headey SJ, Leeding KS, Norton RS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15525596", "url": "https://glygen.org/publication/PubMed/15525596" } ] }, { "title": "Structural basis for the regulation of insulin-like growth factors by IGF binding proteins.", "journal": "Structure (London, England : 1993)", "date": "2005", "authors": "Siwanowicz I, Popowicz GM, Wisniewska M, Huber R, Kuenkele KP, Lang K, Engh RA, Holak TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "15642270", "url": "https://glygen.org/publication/PubMed/15642270" } ] }, { "title": "Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, Wasniewska M, Cole T, Beck-Peccoz P, Nelson LM, Persani L", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "16464940", "url": "https://glygen.org/publication/PubMed/16464940" } ] }, { "title": "Missense mutations in the BMP15 gene are associated with ovarian failure.", "journal": "Human genetics", "date": "2006", "authors": "Dixit H, Rao LK, Padmalatha VV, Kanakavalli M, Deenadayal M, Gupta N, Chakrabarty B, Singh L", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "16508750", "url": "https://glygen.org/publication/PubMed/16508750" } ] }, { "title": "Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.", "journal": "European journal of endocrinology", "date": "2006", "authors": "Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M, Veitia RA", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "16645022", "url": "https://glygen.org/publication/PubMed/16645022" } ] }, { "title": "Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS).", "journal": "Pharmacogenetics and genomics", "date": "2006", "authors": "Moron FJ, de Castro F, Royo JL, Montoro L, Mira E, Saez ME, Real LM, Gonzalez A, Manes S, Ruiz A", "evidence": [ { "database": "Entrez", "id": "9210", "url": "https://www.ncbi.nlm.nih.gov/gene/9210" } ], "reference": [ { "type": "PubMed", "id": "16788381", "url": "https://glygen.org/publication/PubMed/16788381" } ] }, { "title": "The role of insulin-like growth factor binding proteins.", "journal": "Neuroendocrinology", "date": "2006", "authors": "Holly J, Perks C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17047378", "url": "https://glygen.org/publication/PubMed/17047378" } ] }, { "title": "Quantitative analysis of insulin-like growth factor-modulated proteolysis of insulin-like growth factor binding protein-4 and -5 by pregnancy-associated plasma protein-A.", "journal": "Biochemistry", "date": "2007", "authors": "Gyrup C, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17249697", "url": "https://glygen.org/publication/PubMed/17249697" } ] }, { "title": "Regulation of insulin-like growth factor (IGF) bioactivity by sequential proteolytic cleavage of IGF binding protein-4 and -5.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007", "authors": "Laursen LS, Kjaer-Sorensen K, Andersen MH, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17312271", "url": "https://glygen.org/publication/PubMed/17312271" } ] }, { "title": "Cooperativity of the N- and C-terminal domains of insulin-like growth factor (IGF) binding protein 2 in IGF binding.", "journal": "Biochemistry", "date": "2007", "authors": "Kuang Z, Yao S, McNeil KA, Thompson JA, Bach LA, Forbes BE, Wallace JC, Norton RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "17985932", "url": "https://glygen.org/publication/PubMed/17985932" } ] }, { "title": "Characterization of the post-translational modification of recombinant human BMP-15 mature protein.", "journal": "Protein science : a publication of the Protein Society", "date": "2008", "authors": "Saito S, Yano K, Sharma S, McMahon HE, Shimasaki S", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972#ptm_processing" }, { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" }, { "database": "iPTMnet", "id": "O95972", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95972" } ], "reference": [ { "type": "PubMed", "id": "18227435", "url": "https://glygen.org/publication/PubMed/18227435" } ] }, { "title": "BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.", "journal": "Human mutation", "date": "2009", "authors": "Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, Grammatico P, Nelson LM, Beck-Peccoz P, Persani L", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "19263482", "url": "https://glygen.org/publication/PubMed/19263482" } ] }, { "title": "Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure.", "journal": "Clinical endocrinology", "date": "2010", "authors": "Wang B, Wen Q, Ni F, Zhou S, Wang J, Cao Y, Ma X", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "19438907", "url": "https://glygen.org/publication/PubMed/19438907" } ] }, { "title": "The ratio of growth differentiation factor 9: bone morphogenetic protein 15 mRNA expression is tightly co-regulated and differs between species over a wide range of ovulation rates.", "journal": "Mol. Cell. Endocrinol.", "date": "2012", "authors": "Crawford Janet L, McNatty Kenneth P", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "21970812", "url": "https://glygen.org/publication/PubMed/21970812" } ] }, { "title": "Structure of the Mr 140,000 growth hormone-dependent insulin-like growth factor binding protein complex: determination by reconstitution and affinity-labeling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Baxter RC, Martin JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2476804", "url": "https://glygen.org/publication/PubMed/2476804" } ] }, { "title": "Cloning, sequence analysis and expression of a cDNA encoding a novel insulin-like growth factor binding protein (IGFBP-2).", "journal": "The EMBO journal", "date": "1989", "authors": "Binkert C, Landwehr J, Mary JL, Schwander J, Heinrich G", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "2479552", "url": "https://glygen.org/publication/PubMed/2479552" } ] }, { "title": "A Single Kinase Generates the Majority of the Secreted Phosphoproteome.", "journal": "Cell", "date": "2015", "authors": "Tagliabracci VS, Wiley SE, Guo X, Kinch LN, Durrant E, Wen J, Xiao J, Cui J, Nguyen KB, Engel JL, Coon JJ, Grishin N, Pinna LA, Pagliarini DJ, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ] }, { "title": "CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.", "journal": "Human mutation", "date": "2017", "authors": "Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T", "evidence": [ { "database": "UniProtKB", "id": "O95972", "url": "https://www.uniprot.org/uniprot/O95972" } ], "reference": [ { "type": "PubMed", "id": "28585349", "url": "https://glygen.org/publication/PubMed/28585349" } ] }, { "title": "Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.", "journal": "Journal of ovarian research", "date": "2021", "authors": "Ferrarini E, De Marco G, Orsolini F, Gianetti E, Benelli E, Fruzzetti F, Simoncini T, Agretti P, Tonacchera M", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" } ], "reference": [ { "type": "PubMed", "id": "34187539", "url": "https://glygen.org/publication/PubMed/34187539" } ] }, { "title": "Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.", "journal": "Reproductive biology and endocrinology : RB&E", "date": "2022", "authors": "Afkhami F, Shahbazi S, Farzadi L, Danaei S", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" } ], "reference": [ { "type": "PubMed", "id": "35232444", "url": "https://glygen.org/publication/PubMed/35232444" } ] }, { "title": "Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.", "journal": "Journal of assisted reproduction and genetics", "date": "2022", "authors": "Zhang T, Ma Q, Shen Q, Jiang C, Zou F, Shen Y, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" } ], "reference": [ { "type": "PubMed", "id": "35861920", "url": "https://glygen.org/publication/PubMed/35861920" } ] }, { "title": "Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.", "journal": "Clinical endocrinology", "date": "2022-11-13", "authors": "Riepsamen Angelique H, Donoghoe Mark W, Indran Inthrani R, Hechtman Leah, Robertson David M, Gilchrist Robert B, Ledger William L, Yong Eu-Leong", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" } ], "reference": [ { "type": "PubMed", "id": "36372988", "url": "https://glygen.org/publication/PubMed/36372988" } ] }, { "title": "Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.", "journal": "Journal of assisted reproduction and genetics", "date": "2023-03", "authors": "Huang Tian-Hong, Chen Fu-Rui, Zhang Ya-Nan, Chen Shi-Qi, Long Fang-Yi, Wei Jia-Jing, Zhang Kun, Zeng Jiu-Zhi, Zhu Qiao-Ying, Li-Ling Jesse, Gong Yan", "evidence": [ { "database": "RefSeq", "id": "NP_005439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005439" } ], "reference": [ { "type": "PubMed", "id": "36689045", "url": "https://glygen.org/publication/PubMed/36689045" } ] }, { "title": "Heparin, heparan sulfate, and dermatan sulfate regulate formation of the insulin-like growth factor-I and insulin-like growth factor-binding protein complexes.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Arai T, Parker A, Busby W Jr, Clemmons DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7519608", "url": "https://glygen.org/publication/PubMed/7519608" } ] }, { "title": "Matrix metalloproteinases degrade insulin-like growth factor-binding protein-3 in dermal fibroblast cultures.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Fowlkes JL, Enghild JJ, Suzuki K, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7523391", "url": "https://glygen.org/publication/PubMed/7523391" } ] }, { "title": "Recombinant human insulin-like growth factor (IGF)-binding protein-6 inhibits IGF-II-induced differentiation of L6A1 myoblasts.", "journal": "Endocrinology", "date": "1994", "authors": "Bach LA, Hsieh S, Brown AL, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525263", "url": "https://glygen.org/publication/PubMed/7525263" } ] }, { "title": "Identification of insulin-like growth factor-binding protein-3 (IGFBP-3) fragments and IGFBP-5 proteolytic activity in human seminal plasma: a comparison of normal and vasectomized patients.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1994", "authors": "Lee KO, Oh Y, Giudice LC, Cohen P, Peehl DM, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525634", "url": "https://glygen.org/publication/PubMed/7525634" } ] }, { "title": "Biological effects of prostate specific antigen as an insulin-like growth factor binding protein-3 protease.", "journal": "The Journal of endocrinology", "date": "1994", "authors": "Cohen P, Peehl DM, Graves HC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525824", "url": "https://glygen.org/publication/PubMed/7525824" } ] }, { "title": "Interactions between insulin-like growth factor-I (IGF-I) and the system of plasminogen activators and their inhibitors in the control of IGF-binding protein-3 production and proteolysis in human osteosarcoma cells.", "journal": "Endocrinology", "date": "1994", "authors": "Lalou C, Silve C, Rosato R, Segovia B, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7527330", "url": "https://glygen.org/publication/PubMed/7527330" } ] }, { "title": "Biochemical analysis of prostate specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7538844", "url": "https://glygen.org/publication/PubMed/7538844" } ] }, { "title": "Serum levels of insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) in healthy infants, children, and adolescents: the relation to IGF-I, IGF-II, IGFBP-1, IGFBP-2, age, sex, body mass index, and pubertal maturation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1995", "authors": "Juul A, Dalgaard P, Blum WF, Bang P, Hall K, Michaelsen KF, Muller J, Skakkebaek NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7543116", "url": "https://glygen.org/publication/PubMed/7543116" } ] }, { "title": "Autocrine regulation of cell proliferation by the insulin-like growth factor (IGF) and IGF binding protein-3 protease system in a human prostate carcinoma cell line (PC-3).", "journal": "Endocrinology", "date": "1995", "authors": "Angelloz-Nicoud P, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7588299", "url": "https://glygen.org/publication/PubMed/7588299" } ] }, { "title": "Binding of mutants of human insulin-like growth factor II to insulin-like growth factor binding proteins 1-6.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Bach LA, Hsieh S, Sakano K, Fujiwara H, Perdue JF, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7683646", "url": "https://glygen.org/publication/PubMed/7683646" } ] }, { "title": "Glucose does not influence the insulin-like growth factor (JGF) binding to carrier proteins (IGFBPs): analysis of rat and human serum by western ligand blotting.", "journal": "Experientia", "date": "1993", "authors": "Cianfarani S, Frost VJ, Savage MO, Holly JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { 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