{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:08:09Z","timestamp":1791198489250,"version":"4.1.0"},"reference-count":98,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2011,10,1]],"date-time":"2011-10-01T00:00:00Z","timestamp":1317427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular and Cellular Endocrinology"],"published-print":{"date-parts":[[2011,10]]},"DOI":"10.1016\/j.mce.2011.06.022","type":"journal-article","created":{"date-parts":[[2011,7,4]],"date-time":"2011-07-04T14:21:05Z","timestamp":1309789265000},"page":"91-101","source":"Crossref","is-referenced-by-count":36,"title":["G protein-coupled receptors involved in GnRH regulation: Molecular insights from human disease"],"prefix":"10.1016","volume":"346","author":[{"given":"Sekoni D.","family":"Noel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula B.","family":"Kaiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mce.2011.06.022_b0005","doi-asserted-by":"crossref","first-page":"4113","DOI":"10.1210\/jc.2008-0958","article-title":"Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome","volume":"93","author":"Abreu","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0010","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1530\/eje.1.02198","article-title":"Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism","volume":"155","author":"Antelli","year":"2006","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0015","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.mce.2010.07.008","article-title":"Using automated imaging to interrogate gonadotrophin-releasing hormone receptor trafficking and function","volume":"15","author":"Armstrong","year":"2011","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0020","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1210\/me.13.6.890","article-title":"Influence of a species-specific extracellular amino acid on expression and function of the human gonadotropin-releasing hormone receptor","volume":"13","author":"Arora","year":"1999","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0025","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/0955-0674(94)90134-1","article-title":"Structure and function of receptors coupled to G proteins","volume":"6","author":"Baldwin","year":"1994","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.mce.2011.06.022_b0030","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1007\/s000180050348","article-title":"Biological activity and pathological implications of misfolded proteins","volume":"55","author":"Bellotti","year":"1999","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.mce.2011.06.022_b0035","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/j.fertnstert.2005.04.029","article-title":"The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism","volume":"84","author":"Bhagavath","year":"2005","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.mce.2011.06.022_b0040","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/nrendo.2009.177","article-title":"The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism","volume":"5","author":"Bianco","year":"2009","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0485","doi-asserted-by":"crossref","unstructured":"Bianco, S.D., Vandepas, L., Correa-Medina, M., Gereben, B., Mukherjee, A., Kuohung, W., Carroll, R., Teles, M.,G., Latronico, A.C., Kaiser, U.B., 2011. KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation. Endocrinology 152, 1616\u20131626.","DOI":"10.1210\/en.2010-0903"},{"key":"10.1016\/j.mce.2011.06.022_b0050","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1055\/s-2007-984743","article-title":"Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function","volume":"25","author":"Bedecarrats","year":"2007","journal-title":"Semin. Reprod. Med."},{"key":"10.1016\/j.mce.2011.06.022_b0055","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0303-7207(03)00201-6","article-title":"Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function","volume":"205","author":"B\u00e9d\u00e9carrats","year":"2003","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0060","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1210\/jc.86.4.1580","article-title":"Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism","volume":"86","author":"Beranova","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0065","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1006\/scdb.1999.0314","article-title":"Introduction: molecular chaperones of the ER: their role in protein folding and genetic disease","volume":"10","author":"Brooks","year":"1999","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.mce.2011.06.022_b0070","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1530\/EJE-10-0083","article-title":"Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype\u2013phenotype relationships","volume":"162","author":"Brioude","year":"2010","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0495","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1210\/jc.84.3.990","article-title":"Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration","volume":"84","author":"Caron","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0075","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s11154-007-9027-3","article-title":"Human genetics of GPR54","volume":"8","author":"Cerrato","year":"2007","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"10.1016\/j.mce.2011.06.022_b0080","doi-asserted-by":"crossref","unstructured":"Cerrato, F., Shagoury, J., Kralickova, M., Dwyer, A., Falardeau, J., Ozata, M., Van Vliet, G., Bouloux, P., Hall, J.E., Hayes, F.J., Pitteloud, N., Martin, K.A., Welt, C., Seminara, S.B., 2006. Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. Eur. J. Endocrinol. 155 (Suppl. 1), S3\u2013S10.","DOI":"10.1530\/eje.1.02235"},{"key":"10.1016\/j.mce.2011.06.022_b0085","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/417405a","article-title":"Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus","volume":"417","author":"Cheng","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.mce.2011.06.022_b0090","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1016\/0303-7207(93)90278-R","article-title":"Cloning and characterization of the human GnRH receptor","volume":"91","author":"Chi","year":"1993","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0095","doi-asserted-by":"crossref","first-page":"3551","DOI":"10.1210\/jc.2007-2654","article-title":"Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum","volume":"93","author":"Cole","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0100","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1146\/annurev.ph.48.030186.002431","article-title":"Mechanism of action of gonadotropin releasing hormone","volume":"48","author":"Conn","year":"1986","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.mce.2011.06.022_b0105","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1095\/biolreprod36.1.17","article-title":"The molecular basis of gonadotropin-releasing hormone (GnRH) action in the pituitary gonadotrope","volume":"36","author":"Conn","year":"1987","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.mce.2011.06.022_b0110","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1210\/jc.86.6.2680","article-title":"Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction","volume":"86","author":"Costa","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0115","doi-asserted-by":"crossref","first-page":"10972","DOI":"10.1073\/pnas.1834399100","article-title":"Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54","volume":"100","author":"de Roux","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mce.2011.06.022_b0500","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1210\/jc.84.2.567","article-title":"The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred","volume":"84","author":"de Roux","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0120","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1056\/NEJM199711273372205","article-title":"A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor","volume":"337","author":"de Roux","year":"1997","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mce.2011.06.022_b0125","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1016\/S0015-0282(02)03102-3","article-title":"Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene","volume":"77","author":"Dewailly","year":"2002","journal-title":"Fertil. Steril."},{"key":"10.1016\/j.mce.2011.06.022_b0130","doi-asserted-by":"crossref","first-page":"e175","DOI":"10.1371\/journal.pgen.0020175","article-title":"Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2","volume":"2","author":"Dode","year":"2006","journal-title":"PLoS Genet."},{"key":"10.1016\/j.mce.2011.06.022_b0135","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/ejhg.2008.206","article-title":"Kallmann syndrome","volume":"17","author":"Dod\u00e9","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mce.2011.06.022_b0140","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1126\/science.286.5446.1882","article-title":"Setting the standards: quality control in the secretory pathway","volume":"286","author":"Ellgaard","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.mce.2011.06.022_b0145","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1016\/0303-7207(94)90087-6","article-title":"The human gonadotropin-releasing hormone (GnRH) receptor gene: cloning, genomic organization and chromosomal assignment","volume":"103","author":"Fan","year":"1994","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0150","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1016\/S0024-3205(98)00107-6","article-title":"Molecular mechanisms of G protein-coupled receptor desensitization and resensitization","volume":"62","author":"Ferguson","year":"1998","journal-title":"Life Sci."},{"key":"10.1016\/j.mce.2011.06.022_b0155","doi-asserted-by":"crossref","first-page":"2258","DOI":"10.1126\/science.1067338","article-title":"An mRNA surveillance mechanism that eliminates transcripts lacking termination codons","volume":"295","author":"Frischmeyer","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.mce.2011.06.022_b0160","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1016\/j.bbrc.2003.11.066","article-title":"The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system","volume":"312","author":"Funes","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mce.2011.06.022_b0165","doi-asserted-by":"crossref","first-page":"2857","DOI":"10.1210\/jc.2009-2320","article-title":"TAC3\/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood","volume":"95","author":"Gianetti","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0170","doi-asserted-by":"crossref","first-page":"4073","DOI":"10.1210\/en.2004-0431","article-title":"A role for kisspeptins in the regulation of gonadotropin secretion in the mouse","volume":"145","author":"Gottsch","year":"2004","journal-title":"Endocrinology"},{"key":"10.1016\/j.mce.2011.06.022_b0175","doi-asserted-by":"crossref","first-page":"3633","DOI":"10.1210\/jc.2009-0551","article-title":"Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor","volume":"94","author":"Guran","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0180","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1126\/science.1068408","article-title":"Molecular chaperones in the cytosol: from nascent chain to folded protein","volume":"295","author":"Hartl","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.mce.2011.06.022_b0185","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1172\/JCI0216781","article-title":"Protein aggregation in disease: a role for folding intermediates forming specific multimeric interactions","volume":"110","author":"Horwich","year":"2002","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mce.2011.06.022_b0190","doi-asserted-by":"crossref","first-page":"3255","DOI":"10.1210\/jc.87.7.3255","article-title":"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","volume":"87","author":"Janovick","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0195","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1210\/er.18.1.46","article-title":"Studies of gonadotropin-releasing hormone (GnRH) action using GnRH receptor-expressing pituitary cell lines","volume":"18","author":"Kaiser","year":"1997","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.mce.2011.06.022_b0200","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1006\/geno.1994.1211","article-title":"Chromosomal localization of the gonadotropin-releasing hormone receptor gene to human chromosome 4q13.1\u2013q21.1 and mouse chromosome 5","volume":"20","author":"Kaiser","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.mce.2011.06.022_b0205","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/0006-291X(92)91556-6","article-title":"Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor","volume":"189","author":"Kakar","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mce.2011.06.022_b0210","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1210\/jc.2002-020005","article-title":"Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism","volume":"88","author":"Karges","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0215","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/1357-2725(96)00017-9","article-title":"Tachykinins: receptor to effector","volume":"28","author":"Khawaja","year":"1996","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.mce.2011.06.022_b0220","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0198-14","article-title":"Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism","volume":"18","author":"Layman","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mce.2011.06.022_b0505","doi-asserted-by":"crossref","first-page":"3001","DOI":"10.1210\/jc.2004-2071","article-title":"In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles","volume":"90","author":"Lea\u00f1os-Miranda","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0225","doi-asserted-by":"crossref","unstructured":"Lee, J.H,. Miele, M.E., Hicks, D.J., Phillips, K.K., Trent, J.M., Weissman, B.E., Welch, D.R., 1996. KiSS-1, a novel human malignant melanoma metastasis-suppressor gene, J. Natl. Cancer Inst. 88, 1731\u20131737 (Erratum in: J. Natl. Cancer Inst. 89, 1549).","DOI":"10.1093\/jnci\/88.23.1731"},{"key":"10.1016\/j.mce.2011.06.022_b0230","first-page":"2384","article-title":"Suppression of metastasis in human breast carcinoma MDA-MB-435 cells after transfection with the metastasis suppressor gene, KiSS-1","volume":"57","author":"Lee","year":"1997","journal-title":"Cancer Res."},{"key":"10.1016\/j.mce.2011.06.022_b0235","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/(SICI)1097-0215(19970611)71:6<1035::AID-IJC20>3.0.CO;2-B","article-title":"Identification of highly expressed genes in metastasis-suppressed chromosome 6\/human malignant melanoma hybrid cells using subtractive hybridization and differential display","volume":"71","author":"Lee","year":"1997","journal-title":"Int. J. Cancer"},{"key":"10.1016\/j.mce.2011.06.022_b0240","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1124\/mol.59.4.692","article-title":"Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle","volume":"59","author":"Li","year":"2001","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.mce.2011.06.022_b0245","doi-asserted-by":"crossref","first-page":"5117","DOI":"10.1210\/jc.2006-0807","article-title":"A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia","volume":"91","author":"Lin","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0250","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0092-8674(01)00202-1","article-title":"Quality control of mRNA function","volume":"104","author":"Maquat","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.mce.2011.06.022_b0255","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1210\/er.2010-0007","article-title":"The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations","volume":"32","author":"Martin","year":"2011","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.mce.2011.06.022_b0260","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.bbrc.2004.05.185","article-title":"Peripheral administration of metastin induces marked gonadotropin release and ovulation in the rat","volume":"320","author":"Matsui","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mce.2011.06.022_b0265","doi-asserted-by":"crossref","first-page":"4140","DOI":"10.1073\/pnas.0508881103","article-title":"Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2","volume":"103","author":"Matsumoto","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mce.2011.06.022_b0270","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.mce.2011.01.016","article-title":"Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism","volume":"337","author":"Maya-N\u00fa\u00f1ez","year":"2011","journal-title":"Mol. Cell. Endocrinol."},{"issue":"7","key":"10.1016\/j.mce.2011.06.022_b0275","doi-asserted-by":"crossref","first-page":"3189","DOI":"10.1210\/jc.2003-031808","article-title":"GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone","volume":"89","author":"Meysing","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0280","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1210\/me.2009-0473","article-title":"The year in G protein-coupled receptor research","volume":"24","author":"Millar","year":"2010","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0285","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1093\/hmg\/ddn318","article-title":"PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity","volume":"18","author":"Monnier","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mce.2011.06.022_b0290","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/S1043-2760(99)00232-5","article-title":"Activation of MAPK cascades by G- protein-coupled receptors: the case of gonadotropin-releasing hormone receptor","volume":"11","author":"Naor","year":"2000","journal-title":"Trends Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0295","doi-asserted-by":"crossref","first-page":"E536","DOI":"10.1210\/jc.2010-1676","article-title":"A novel loss-of-function mutation in GPR54\/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family","volume":"96","author":"Nimri","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0300","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1210\/me.2009-0013","article-title":"Regulation of GPR54 signaling by GRK2 and {beta}-arrestin","volume":"23","author":"Pampillo","year":"2009","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0305","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.tips.2010.10.001","article-title":"Importance of the extracellular loops in G protein-coupled receptors for ligand recognition and receptor activation","volume":"32","author":"Peeters","year":"2011","journal-title":"Trends Pharmacol. Sci."},{"key":"10.1016\/j.mce.2011.06.022_b0310","doi-asserted-by":"crossref","first-page":"2470","DOI":"10.1210\/jc.86.6.2470","article-title":"The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor","volume":"86","author":"Pitteloud","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0315","doi-asserted-by":"crossref","first-page":"17447","DOI":"10.1073\/pnas.0707173104","article-title":"Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism","volume":"104","author":"Pitteloud","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mce.2011.06.022_b0320","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1210\/jc.84.10.3811","article-title":"Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor","volume":"84","author":"Pralong","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0325","doi-asserted-by":"crossref","first-page":"3339","DOI":"10.1111\/j.1460-9568.2007.05958.x","article-title":"Olfactory bulb hypoplasia in Prokr2 null mice stems from defective neuronal progenitor migration and differentiation","volume":"26","author":"Prosser","year":"2007","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.mce.2011.06.022_b0330","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.peptides.2008.05.016","article-title":"Menopause and the human hypothalamus: evidence for the role of kisspeptin\/neurokinin B neurons in the regulation of estrogen negative feedback","volume":"30","author":"Rance","year":"2009","journal-title":"Peptides"},{"key":"10.1016\/j.mce.2011.06.022_b0340","doi-asserted-by":"crossref","unstructured":"Re, M., Pampillo, M., Savard, M., Dubuc, C., McArdle, C.A., Millar, R.P., Conn, P.M., Gobeil Jr., F., Bhattacharya, M., Babwah, A.V., 2010. The human gonadotropin releasing hormone type I receptor is a functional intracellular GPCR expressed on the nuclear membrane. PLoS One 5, e11489.","DOI":"10.1371\/journal.pone.0011489"},{"key":"10.1016\/j.mce.2011.06.022_b0345","doi-asserted-by":"crossref","first-page":"21281","DOI":"10.1016\/S0021-9258(19)36602-5","article-title":"Molecular cloning and expression of cDNA encoding the murine gonadotropin-releasing hormone receptor","volume":"267","author":"Reinhart","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2011.06.022_b0350","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/nature08144","article-title":"The structure and function of G-protein-coupled receptors","volume":"459","author":"Rosenbaum","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.mce.2011.06.022_b0355","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.mce.2011.06.022_b0360","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1210\/jc.2009-0843","article-title":"A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes","volume":"95","author":"Sarfati","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0365","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0014-5793(99)01459-3","article-title":"MIT(1), a black mamba toxin with a new and highly potent activity on intestinal contraction","volume":"461","author":"Schweitz","year":"1999","journal-title":"FEBS Lett."},{"key":"10.1016\/j.mce.2011.06.022_b0370","doi-asserted-by":"crossref","unstructured":"Seminara, S.B., Messager, S., Chatzidaki, E.E., Thresher, R.R., Acierno Jr., J.S., Shagoury, J.K., Bo-Abbas, Y., Kuohung, W., Schwinof, K.M., Hendrick, A.G., Zahn, D., Dixon, J., Kaiser, U.B., Slaugenhaupt, S.A., Gusella, J.F., O\u2019Rahilly, S., Carlton, M.B., Crowley Jr., W.F., Aparicio, S.A., Colledge, W.H., 2003. The GPR54 gene as a regulator of puberty. N. Engl. J. Med. 349, 1614\u20131627.","DOI":"10.1056\/NEJMoa035322"},{"key":"10.1016\/j.mce.2011.06.022_b0375","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1210\/jc.2004-1418","article-title":"Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism","volume":"90","author":"Semple","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0380","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1073\/pnas.0409822102","article-title":"Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates","volume":"102","author":"Shahab","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mce.2011.06.022_b0490","doi-asserted-by":"crossref","unstructured":"Silveira, L.G., Noel, S.D., Silveira-Neto, A.P., Abreu, A.P., Brito, V.N., Santos, M.G., Bianco, S.D., Kuohung, W., Xu, S., Gryngarten, M., Escobar, M.E., Arnhold, I.J., Mendonca, B.B., Kaiser, U.B., Latronico, A.C., 2010. Mutations of the KISS1 gene in disorders of puberty. J. Clin. Endocrinol. Metab. 95, 2276\u20132280.","DOI":"10.1210\/jc.2009-2421"},{"key":"10.1016\/j.mce.2011.06.022_b0390","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.neuroscience.2008.08.037","article-title":"Localization and function of NK(3) subtype tachykinin receptors of layer V pyramidal neurons of the guinea-pig medial prefrontal cortex","volume":"156","author":"Simmons","year":"2008","journal-title":"Neuroscience"},{"key":"10.1016\/j.mce.2011.06.022_b0395","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/humrep\/den046","article-title":"Seminal anti-M\u00fcllerian hormone level is a marker of spermatogenic response during long-term gonadotropin therapy in male hypogonadotropic hypogonadism","volume":"23","author":"Sinisi","year":"2008","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.mce.2011.06.022_b0400","doi-asserted-by":"crossref","first-page":"15140","DOI":"10.1073\/pnas.1009622107","article-title":"Oligogenic basis of isolated gonadotropin-releasing hormone deficiency","volume":"107","author":"Sykiotis","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mce.2011.06.022_b0405","doi-asserted-by":"crossref","unstructured":"Szereszewski, J.M., Pampillo, M., Ahow, M.R., Offermanns, S., Bhattacharya, M., Babwah, A.V., 2010. GPR54 regulates ERK1\/2 activity and hypothalamic gene expression in a G\u03b1(q\/11) and \u03b2-arrestin-dependent manner. PLoS One 5, e12964.","DOI":"10.1371\/journal.pone.0012964"},{"key":"10.1016\/j.mce.2011.06.022_b0410","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0014-5793(02)02775-8","article-title":"Identification of G protein-coupled receptor genes from the human genome sequence","volume":"520","author":"Takeda","year":"2002","journal-title":"FEBS Lett."},{"key":"10.1016\/j.mce.2011.06.022_b0415","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1146\/annurev.pharmtox.44.101802.121558","article-title":"Membrane trafficking of G protein-coupled receptors","volume":"44","author":"Tan","year":"2004","journal-title":"Annu. Rev. Pharmacol. Toxicol."},{"key":"10.1016\/j.mce.2011.06.022_b0420","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.pharmthera.2006.02.008","article-title":"Inactivating mutations of G protein-coupled receptors and diseases: structure\u2013function insights and therapeutic implications","volume":"111","author":"Tao","year":"2006","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.mce.2011.06.022_b0425","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1056\/NEJMoa073443","article-title":"A GPR54-activating mutation in a patient with central precocious puberty","volume":"358","author":"Teles","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mce.2011.06.022_b0430","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1530\/EJE-10-0012","article-title":"A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism","volume":"163","author":"Teles","year":"2010","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0435","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1210\/jc.2006-2147","article-title":"Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54","volume":"92","author":"Tenenbaum-Rakover","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2011.06.022_b0440","doi-asserted-by":"crossref","first-page":"4003","DOI":"10.2174\/138161209789824803","article-title":"Unraveling the structure and function of G protein-coupled receptors through NMR spectroscopy","volume":"15","author":"Tikhonova","year":"2009","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/j.mce.2011.06.022_b0445","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1159\/000098147","article-title":"Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene","volume":"84","author":"Topaloglu","year":"2006","journal-title":"Neuroendocrinology"},{"key":"10.1016\/j.mce.2011.06.022_b0450","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1038\/ng.306","article-title":"TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction","volume":"41","author":"Topaloglu","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mce.2011.06.022_b0455","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1210\/me.6.7.1163","article-title":"Cloning and functional expression of a mouse gonadotropin-releasing hormone receptor","volume":"6","author":"Tsutsumi","year":"1992","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mce.2011.06.022_b0460","doi-asserted-by":"crossref","first-page":"2262","DOI":"10.1126\/science.1067272","article-title":"Exosome-mediated recognition and degradation of mRNAs lacking a termination codon","volume":"295","author":"van Hoof","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.mce.2011.06.022_b0465","doi-asserted-by":"crossref","first-page":"31068","DOI":"10.1074\/jbc.M805251200","article-title":"Disease-causing mutation in GPR54 reveals the importance of the second intracellular loop for class A G-protein-coupled receptor function","volume":"283","author":"Wacker","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2011.06.022_b0470","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0163-7258(98)00030-8","article-title":"Molecular basis of receptor\/G-protein-coupling selectivity","volume":"80","author":"Wess","year":"1998","journal-title":"Pharmacol. Ther."},{"issue":"Suppl. 9","key":"10.1016\/j.mce.2011.06.022_b0475","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/prot.22588","article-title":"I-TASSER: fully automated protein structure prediction in CASP8","volume":"77","author":"Zhang","year":"2009","journal-title":"Proteins"},{"key":"10.1016\/j.mce.2011.06.022_b0480","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0026-895X(25)09910-9","article-title":"A reciprocal mutation supports helix 2 and helix 7 proximity in the gonadotropin-releasing hormone receptor","volume":"45","author":"Zhou","year":"1994","journal-title":"Mol. Pharmacol."}],"container-title":["Molecular and Cellular Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303720711003406?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303720711003406?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T22:18:01Z","timestamp":1741299481000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303720711003406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10]]},"references-count":98,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["S0303720711003406"],"URL":"https:\/\/doi.org\/10.1016\/j.mce.2011.06.022","relation":{},"ISSN":["0303-7207"],"issn-type":[{"value":"0303-7207","type":"print"}],"subject":[],"published":{"date-parts":[[2011,10]]}}}