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This gene, expressed in the pituitary, encodes a receptor for growth-hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth-hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. Many alternate transcriptional splice variants encoding different isoforms have been described, but only two have been characterized to date.[2]
↑Kovács M, Schally AV, Zarándi M, Groot K (1997). "Inhibition of GH release of rats by new potent antagonists of growth hormone-releasing hormone (GH-RH)". Peptides. 18 (3): 431–8. doi:10.1016/S0196-9781(96)00334-8. PMID9145432.
Gaylinn BD (Apr 1999). "Molecular and cell biology of the growth hormone-releasing hormone receptor". Growth Hormone & IGF Research. 9 Suppl A: 37–44. doi:10.1016/S1096-6374(99)80008-2. PMID10429879.
Lin-Su K, Wajnrajch MP (Dec 2002). "Growth Hormone Releasing Hormone (GHRH) and the GHRH Receptor". Reviews in Endocrine & Metabolic Disorders. 3 (4): 313–23. doi:10.1023/A:1020949507265. PMID12424433.
Mayo KE (Oct 1992). "Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone". Molecular Endocrinology. 6 (10): 1734–44. doi:10.1210/me.6.10.1734. PMID1333056.
Squire J, Zhou A, Hassel BA, Nie H, Silverman RH (Jan 1994). "Localization of the interferon-induced, 2-5A-dependent RNase gene (RNS4) to human chromosome 1q25". Genomics. 19 (1): 174–5. doi:10.1006/geno.1994.1033. PMID7514564.
Hashimoto K, Koga M, Motomura T, Kasayama S, Kouhara H, Ohnishi T, Arita N, Hayakawa T, Sato B, Kishimoto T (Oct 1995). "Identification of alternatively spliced messenger ribonucleic acid encoding truncated growth hormone-releasing hormone receptor in human pituitary adenomas". The Journal of Clinical Endocrinology and Metabolism. 80 (10): 2933–9. doi:10.1210/jc.80.10.2933. PMID7559877.
Tang J, Lagacé G, Castagné J, Collu R (Aug 1995). "Identification of human growth hormone-releasing hormone receptor splicing variants". The Journal of Clinical Endocrinology and Metabolism. 80 (8): 2381–7. doi:10.1210/jc.80.8.2381. PMID7629234.
Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO (Jan 1993). "Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone". Molecular Endocrinology. 7 (1): 77–84. doi:10.1210/me.7.1.77. PMID7680413.
Gaylinn BD, von Kap-Herr C, Golden WL, Thorner MO (Jan 1994). "Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization". Genomics. 19 (1): 193–5. doi:10.1006/geno.1994.1045. PMID8188233.
Wajnrajch MP, Gertner JM, Harbison MD, Chua SC, Leibel RL (Jan 1996). "Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse". Nature Genetics. 12 (1): 88–90. doi:10.1038/ng0196-88. PMID8528260.
Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S (Feb 1998). "Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene". The Journal of Clinical Endocrinology and Metabolism. 83 (2): 432–6. doi:10.1210/jc.83.2.432. PMID9467553.
Petersenn S, Rasch AC, Heyens M, Schulte HM (Feb 1998). "Structure and regulation of the human growth hormone-releasing hormone receptor gene". Molecular Endocrinology. 12 (2): 233–47. doi:10.1210/me.12.2.233. PMID9482665.
Maheshwari HG, Silverman BL, Dupuis J, Baumann G (Nov 1998). "Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh". The Journal of Clinical Endocrinology and Metabolism. 83 (11): 4065–74. doi:10.1210/jc.83.11.4065. PMID9814493.
Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA, Souza AH, Gondo RG, Toledo SP, Conceicão MM, Prince M, Maheshwari HG, Baumann G, Levine MA (Mar 1999). "Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene". The Journal of Clinical Endocrinology and Metabolism. 84 (3): 917–23. doi:10.1210/jc.84.3.917. PMID10084571.
Morel G, Gallego R, Boulanger L, Pintos E, Garcia-Caballero T, Gaudreau P (Aug 1999). "Restricted presence of the growth hormone-releasing hormone receptor to somatotropes in rat and human pituitaries". Neuroendocrinology. 70 (2): 128–36. doi:10.1159/000054467. PMID10461027.
Salvatori R, Fan X, Phillips JA, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA (Jan 2001). "Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib". The Journal of Clinical Endocrinology and Metabolism. 86 (1): 273–9. doi:10.1210/jc.86.1.273. PMID11232012.
Salvatori R, Fan X, Mullis PE, Haile A, Levine MA (Mar 2002). "Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site". Molecular Endocrinology. 16 (3): 450–8. doi:10.1210/me.16.3.450. PMID11875102.
Plonowski A, Schally AV, Busto R, Krupa M, Varga JL, Halmos G (Jun 2002). "Expression of growth hormone-releasing hormone (GHRH) and splice variants of GHRH receptors in human experimental prostate cancers". Peptides. 23 (6): 1127–33. doi:10.1016/S0196-9781(02)00043-8. PMID12126741.