{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:33:46Z","timestamp":1772166826662,"version":"3.50.1"},"reference-count":40,"publisher":"The Endocrine Society","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,2,1]]},"DOI":"10.1210\/jc.2009-1304","type":"journal-article","created":{"date-parts":[[2010,1,8]],"date-time":"2010-01-08T21:49:36Z","timestamp":1262987376000},"page":"529-536","source":"Crossref","is-referenced-by-count":42,"title":["Identification and\n                    <i>in Vitro<\/i>\n                    Characterization of Follicle Stimulating Hormone (FSH) Receptor Variants Associated with Abnormal Ovarian Response to FSH"],"prefix":"10.1210","volume":"95","author":[{"given":"Tsilya","family":"Gerasimova","sequence":"first","affiliation":[{"name":"Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06511"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria N.","family":"Thanasoula","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06511"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios","family":"Zattas","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06511"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emre","family":"Seli","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06511"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denny","family":"Sakkas","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06511"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria D.","family":"Lalioti","sequence":"additional","affiliation":[{"name":"Section of Reproductive Endocrinology and Infertility, Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06511"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041114062155200_R1","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1385\/ENDO:26:3:207","article-title":"Mutations in human gonadotropin and gonadotropin-receptor genes","volume":"26","author":"Huhtaniemi","year":"2005","journal-title":"Endocrine"},{"key":"key\n\t\t\t\t2019041114062155200_R2","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1210\/mend-5-10-1405","article-title":"Cellular localization and hormonal regulation of follicle-stimulating hormone and luteinizing hormone receptor messenger RNAs in the rat ovary","volume":"5","author":"Camp","year":"1991","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R3","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1210\/mend-4-4-525","article-title":"The testicular receptor for follicle stimulating hormone: structure and functional expression of cloned cDNA","volume":"4","author":"Sprengel","year":"1990","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R4","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/0303-7207(92)90220-Z","article-title":"The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells","volume":"89","author":"Kelton","year":"1992","journal-title":"Mol Cell Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R5","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.cell.2006.01.051","article-title":"FSH directly regulates bone mass","volume":"125","author":"Sun","year":"2006","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019041114062155200_R6","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1146\/annurev.ph.42.030180.000423","article-title":"Regulation of the testis Sertoli cell by follicle stimulating hormone","volume":"42","author":"Means","year":"1980","journal-title":"Annu Rev Physiol"},{"key":"key\n\t\t\t\t2019041114062155200_R7","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s12020-008-9041-6","article-title":"Multiple facets of follicle-stimulating hormone receptor function","volume":"32","author":"Ulloa-Aguirre","year":"2007","journal-title":"Endocrine"},{"key":"key\n\t\t\t\t2019041114062155200_R8","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1056\/NEJM199708283370905","article-title":"Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone \u03b2-subunit gene","volume":"337","author":"Layman","year":"1997","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041114062155200_R9","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0993-83","article-title":"Primary amenorrhoea and infertility due to a mutation in the \u03b2-subunit of follicle-stimulating hormone","volume":"5","author":"Matthews","year":"1993","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041114062155200_R10","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1056\/NEJM199806113382404","article-title":"Male hypogonadism due to a mutation in the gene for the \u03b2-subunit of follicle-stimulating hormone","volume":"338","author":"Phillip","year":"1998","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041114062155200_R11","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/0092-8674(95)90275-9","article-title":"Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure","volume":"82","author":"Aittoma\u0308ki","year":"1995","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019041114062155200_R12","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1172\/JCI3795","article-title":"A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor","volume":"102","author":"Beau","year":"1998","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t2019041114062155200_R13","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1210\/jcem.87.3.8319","article-title":"A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure","volume":"87","author":"Doherty","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114062155200_R14","doi-asserted-by":"crossref","first-page":"3491","DOI":"10.1210\/jc.2003-030217","article-title":"Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies","volume":"88","author":"Meduri","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114062155200_R15","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1210\/mend.13.11.0370","article-title":"New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype","volume":"13","author":"Touraine","year":"1999","journal-title":"Mol Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R16","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1093\/humrep\/deg046","article-title":"A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics","volume":"18","author":"Allen","year":"2003","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t2019041114062155200_R17","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1056\/NEJMoa030064","article-title":"Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor","volume":"349","author":"Smits","year":"2003","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041114062155200_R18","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1210\/jc.2003-031910","article-title":"A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome","volume":"89","author":"Montanelli","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114062155200_R19","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1056\/NEJMoa030065","article-title":"A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome","volume":"349","author":"Vasseur","year":"2003","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041114062155200_R20","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/humu.20604","article-title":"Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome","volume":"29","author":"De Leener","year":"2008","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041114062155200_R21","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1210\/jc.2005-1580","article-title":"Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology","volume":"91","author":"De Leener","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114062155200_R22","doi-asserted-by":"crossref","first-page":"13612","DOI":"10.1073\/pnas.95.23.13612","article-title":"Impairing follicle-stimulating hormone (FSH) signaling in vivo: targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance","volume":"95","author":"Dierich","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041114062155200_R23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/humupd\/dmm034","article-title":"Predictors of ovarian response: progress towards individualized treatment in ovulation induction and ovarian stimulation","volume":"14","author":"Fauser","year":"2008","journal-title":"Hum Reprod Update"},{"key":"key\n\t\t\t\t2019041114062155200_R24","first-page":"3365","article-title":"Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype","volume":"85","author":"Perez Mayorga","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114062155200_R25","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1093\/molehr\/8.10.893","article-title":"Genetic and functional analyses of polymorphisms in the human FSH receptor gene","volume":"8","author":"Sudo","year":"2002","journal-title":"Mol Hum Reprod"},{"key":"key\n\t\t\t\t2019041114062155200_R26","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0092-8674(01)00241-0","article-title":"Molecular mechanisms of human hypertension","volume":"104","author":"Lifton","year":"2001","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019041114062155200_R27","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S0015-0282(03)01115-4","article-title":"Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility","volume":"80","author":"Laven","year":"2003","journal-title":"Fertil Steril"},{"key":"key\n\t\t\t\t2019041114062155200_R28","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s10038-006-0005-5","article-title":"Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET","volume":"51","author":"Jun","year":"2006","journal-title":"J Hum Genet"},{"key":"key\n\t\t\t\t2019041114062155200_R29","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.mce.2007.11.027","article-title":"Molecular pathology of the FSH receptor: new insights into FSH physiology","volume":"282","author":"Meduri","year":"2008","journal-title":"Mol Cell Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R30","first-page":"1367","article-title":"An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man","volume":"81","author":"Gromoll","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114062155200_R31","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1093\/molehr\/8.4.311","article-title":"Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation","volume":"8","author":"Rannikko","year":"2002","journal-title":"Mol Hum Reprod"},{"key":"key\n\t\t\t\t2019041114062155200_R32","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1091\/mbc.e05-09-0875","article-title":"Luteinizing hormone receptor ectodomain splice variant misroutes the full-length receptor into a subcompartment of the endoplasmic reticulum","volume":"17","author":"Apaja","year":"2006","journal-title":"Mol Biol Cell"},{"key":"key\n\t\t\t\t2019041114062155200_R33","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1095\/biolreprod.107.063925","article-title":"Functional and structural roles of conserved cysteine residues in the carboxyl-terminal domain of the follicle-stimulating hormone receptor in human embryonic kidney 293 cells","volume":"78","author":"Uribe","year":"2008","journal-title":"Biol Reprod"},{"key":"key\n\t\t\t\t2019041114062155200_R34","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1093\/humrep\/dei317","article-title":"The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles","volume":"21","author":"de Koning","year":"2006","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t2019041114062155200_R35","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0303-7207(94)90235-6","article-title":"Follicle-stimulating hormone receptor mRNA in the mouse ovary during post-natal development in the normal mouse and in the adult hypogonadal (hpg) mouse: structure of alternate transcripts","volume":"101","author":"O'Shaughnessy","year":"1994","journal-title":"Mol Cell Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R36","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0303-7207(96)03816-6","article-title":"Expression of follicle-stimulating hormone-receptor mRNA alternate transcripts in bovine granulosa cells during luteinization in vivo and in vitro","volume":"120","author":"Rajapaksha","year":"1996","journal-title":"Mol Cell Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R37","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1677\/joe.0.1580127","article-title":"Alternative splicing of follicle-stimulating hormone receptor pre-mRNA: cloning and characterization of two alternatively spliced mRNA transcripts","volume":"158","author":"Kraaij","year":"1998","journal-title":"J Endocrinol"},{"key":"key\n\t\t\t\t2019041114062155200_R38","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1006\/bbrc.1996.1419","article-title":"Follitropin signal transduction: alternative splicing of the FSH receptor gene produces a dominant negative form of receptor which inhibits hormone action","volume":"226","author":"Sairam","year":"1996","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t2019041114062155200_R39","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/S0015-0282(01)03221-6","article-title":"Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men","volume":"77","author":"Song","year":"2002","journal-title":"Fertil Steril"},{"key":"key\n\t\t\t\t2019041114062155200_R40","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1016\/0006-291X(92)91341-M","article-title":"Molecular cloning of a truncated isoform of the human follicle stimulating hormone receptor","volume":"188","author":"Gromoll","year":"1992","journal-title":"Biochem Biophys Res Commun"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/95\/2\/529\/9065074\/jcem0529.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,24]],"date-time":"2019-05-24T21:51:29Z","timestamp":1558734689000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/95\/2\/529\/2596589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,1]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2009-1304","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.2136987.1737091","asserted-by":"object"}]},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,1]]}}}