« Previous
Next »
Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 4
, Pages 515-528
, December 2006
GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency
References
- . Molecular biology of gonadotropin-releasing hormone (GnRH)-I, GnRH-II, and their receptors in humans. Endocrine Reviews. 2005;26:283–306
- Gonadotropin-releasing hormone receptors. Endocrine Reviews. 2004;25:235–275
- A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. The New England Journal of Medicine. 1997;337:1597–1602
- . Clinical and molecular genetics of the human GnRH receptor. Human Reproduction Update. 2003;9:523–530
- Hypogonadotropic hypogonadism due to a loss of function of the KiSS-1 derived peptide receptor (GPR54). A new mechanism of regulation of the gonadotropic axis. Proceedings of the National Academy of Sciences of the United States of America. 2003;100:10972–10976
- The GPR54 gene as a regulator of puberty. The New England Journal of Medicine. 2003;349:1614–1627
- . KISS1 metastasis suppression and emergent pathways. Clinical & Experimental Metastasis. 2003;20:11–18
- Kisspeptin-54 stimulates the hypothalamic-pituitary gonadal axis in human males. The Journal of Clinical Endocrinology and Metabolism. 2005;90:6609–6615
- A role for kisspeptins in the regulation of gonadotropin secretion in the mouse. Endocrinology. 2004;145:4073–4077
- Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat. Biochemical and Biophysical Research Communications. 2004;320:383–388
- Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54. Proceedings of the National Academy of Sciences of the United States of America. 2005;102:1761–1766
- Effects of KiSS-1 peptide, the natural ligand of GPR54, on follicle-stimulating hormone secretion in the rat. Endocrinology. 2005;146:1689–1697
- Central and peripheral administration of kisspeptin-10 stimulates the hypothalamic-pituitary-gonadal axis. Journal of Neuroendocrinology. 2004;16:850–858
- Discovery of a receptor related to the galanin receptors. FEBS Letters. 1999;446:103–107
- The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54. The Journal of Biological Chemistry. 2001;276:34631–34636
- AXOR12, a novel human G protein-coupled receptor, activated by the peptide KiSS-1. The Journal of Biological Chemistry. 2001;276:28969–28975
- Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor. Nature. 2001;411:613–617
- . Mutations of the conserved DRS motif in the second intracellular loop of the gonadotropin-releasing hormone receptor affect expression, activation, and internalization. Molecular Endocrinology (Baltimore, Md.). 1997;11:1203–1212
- A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene. Fertility and Sterility. 2003;79:442–444
- GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. The Journal of Clinical Endocrinology and Metabolism. 2004;89:3189–3198
- . Phylogenetic analysis of 277 human G-protein-coupled receptors as a tool for the prediction of orphan receptor ligands. Genome Biology. 2002;3:0063.1–0063.13
- . RFamide peptides. Introduction. Peptides. 2006;27:941–942
- . Newly recognized GnRH receptors: function and relative role. Trends in Endocrinology and Metabolism. 2004;15:383–392
- Inhibition of human type i gonadotropin-releasing hormone receptor (GnRHR) function by expression of a human type II GnRHR gene fragment. Endocrinology. 2005;146:2639–2649
- . Relative effect of gonadotropin-releasing hormone (GnRH)-I and GnRH-II on gonadotropin release. The Journal of Clinical Endocrinology and Metabolism. 2003;88:2126–2134
- Mutations remote from the human gonadotropin-releasing hormone (GnRH) receptor-binding sites specifically increase binding affinity for GnRH II but not GnRH I: evidence for ligand-selective, receptor-active conformations. The Journal of Biological Chemistry. 2005;280:29796–29803
- Gonadotropin-releasing hormone-II mRNA and protein content in the mammalian brain are modulated by food intake. Endocrinology. 2006;147:5069–5077
- Activation of mitogen-activated protein kinase (MAPK) by GnRH is cell-context dependent. Molecular and Cellular Endocrinology. 2006;252:184–190
- . Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction. The Journal of Clinical Endocrinology and Metabolism. 2003;88:834–843
- Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 2001;86:1580–1588
- The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. The Journal of Clinical Endocrinology and Metabolism. 1999;84:567–572
- Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene. Fertility and Sterility. 2002;77:1288–1291
- A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. The Journal of Clinical Endocrinology and Metabolism. 2000;85:3002–3008
- Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nature Genetics. 1998;18:14–15
- . Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 2002;87:4825–4828
- The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. The Journal of Clinical Endocrinology and Metabolism. 2001;86:2470–2475
- Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. The Journal of Clinical Endocrinology and Metabolism. 1999;84:3811–3816
- Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. The Journal of Clinical Endocrinology and Metabolism. 2000;85:556–562
- Regulation of Kiss1 gene expression in the brain of the female mouse. Endocrinology. 2005;146:3686–3692
- Differential regulation of KiSS-1 mRNA expression by sex steroids in the brain of the male mouse. Endocrinology. 2005;146:2976–2984
- The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system. Biochemical and Biophysical Research Communications. 2003;312:1357–1363
- A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse. Science. 1986;234:1366–1371
- A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. Molecular Endocrinology (Baltimore, Md.). 2005;19:972–981
- The hypogonadal mouse: reproductive functions restored by gene therapy. Science. 1986;234:1372–1378
- Brain grafts reverse hypogonadism of gonadotropin releasing hormone deficiency. Nature. 1982;298:468–471
- Gonadotrophin-releasing hormone deficiency in a mutant mouse with hypogonadism. Nature. 1977;269:338–340
- Pituitary gonadotropin-releasing hormone receptor regulation in the hypogonadotrophic hypogonadal (hpg) mouse. Endocrinology. 1983;113:55–61
- Effects of luteinizing hormone releasing hormone on the gonadotrophs of hypogonadal (hpg) mice. The Journal of Endocrinology. 1982;95:331–340
- Normal sequence of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotropic hypogonadism. Biology of Reproduction. 1991;45:743–747
- . The prevalence and potential effects of gonadotropin releasing hormone gene point mutations in idopathic hypogonadotropic hypogonadism (abstract from an Endocrine Society Meeting). Endocrine Societies. 1996;(P3-40):855
- The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. Fertility and Sterility. 2005;84:951–957
- . Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target. The Journal of Clinical Endocrinology and Metabolism. 2002;87:3255–3262
- Structure-activity relations of successful pharmacologic chaperones for rescue of naturally occurring and manufactured mutants of the gonadotropin-releasing hormone receptor. The Journal of Pharmacology and Experimental Therapeutics. 2003;305:608–614
- Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism. Human Reproduction Update. 2004;10:177–192
- Human loss-of-function gonadotropin-releasing hormone receptor mutants retain wild-type receptors in the endoplasmic reticulum: molecular basis of the dominant-negative effect. Molecular Endocrinology (Baltimore, Md.). 2004;18:1787–1797
- . Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome. Endocrine Development. 2005;8:67–80
- Two novel Missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 2005;90:1849–1855
- A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. Clinical Endocrinology. 2001;54:493–498
- Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. The Journal of Clinical Endocrinology and Metabolism. 2001;86:2680–2686
- Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR ‘knockout’. The Journal of Clinical Endocrinology and Metabolism. 2002;87:2973–2977
- Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. The Journal of Clinical Endocrinology and Metabolism. 2005;90:1091–1099
- Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. The Journal of Clinical Endocrinology and Metabolism. 1999;84:990–996
- Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. Fertility and Sterility. 2002;78:1317–1320
- Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population. Molecular Endocrinology (Baltimore, Md.). 2005;19:225–236
- Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates. Proceedings of the National Academy of Sciences of the United States of America. 2005;102:2129–2134
- Characterization of the potent luteinizing hormone-releasing activity of KiSS-1 peptide, the natural ligand of GPR54. Endocrinology. 2005;146:156–163
- . New Gatekeepers of Reproduction: GPR54 and Its Cognate Ligand, KiSS-1. Endocrinology. 2005;146:1686–1688
- Advanced vaginal opening and precocious activation of the reproductive axis by KiSS-1 peptide, the endogenous ligand of GPR54. The Journal of Physiology. 2004;561:379–386
- Activation of gonadotropin-releasing hormone neurons by kisspeptin as a neuroendocrine switch for the onset of puberty. The Journal of Neuroscience. 2005;25:11349–11356
- Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. European Journal of Endocrinology. 2005;153:845–852
PII: S1521-690X(06)00084-4
doi: 10.1016/j.beem.2006.10.005
© 2006 Elsevier Ltd. All rights reserved.
« Previous
Next »
Best Practice & Research Clinical Endocrinology & Metabolism
Volume 20, Issue 4
, Pages 515-528
, December 2006
