{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T19:13:18Z","timestamp":1773774798367,"version":"3.50.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1993,9,1]],"date-time":"1993-09-01T00:00:00Z","timestamp":746841600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1993,9]]},"DOI":"10.1038\/ng0993-83","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T21:02:14Z","timestamp":1092862934000},"page":"83-86","source":"Crossref","is-referenced-by-count":289,"title":["Primary amenorrhoea and infertility due to a mutation in the \u03b2\u2013subunit of follicle\u2013stimulating hormone"],"prefix":"10.1038","volume":"5","author":[{"given":"C.H.","family":"Matthews","sequence":"first","affiliation":[]},{"given":"S.","family":"Borgato","sequence":"additional","affiliation":[]},{"given":"P.","family":"Beck-Peccoz","sequence":"additional","affiliation":[]},{"given":"M.","family":"Adams","sequence":"additional","affiliation":[]},{"given":"Y.","family":"Tone","sequence":"additional","affiliation":[]},{"given":"G.","family":"Gambino","sequence":"additional","affiliation":[]},{"given":"S.","family":"Casagrande","sequence":"additional","affiliation":[]},{"given":"G.","family":"Tedeschini","sequence":"additional","affiliation":[]},{"given":"A.","family":"Benedetti","sequence":"additional","affiliation":[]},{"given":"V.K.K.","family":"Chatterjee","sequence":"additional","affiliation":[]}],"member":"297","reference":[{"key":"BFng099383_CR1","first-page":"383","volume":"43","author":"RJ Ryan","year":"1987","unstructured":"Ryan, R.J. et al. Structure-function relationships of gonadotrophins. Recent Prog. norm. Res. 43, 383\u2013429 (1987).","journal-title":"Recent Prog. norm. Res."},{"key":"BFng099383_CR2","first-page":"209","volume":"45","author":"AJ Hsueh","year":"1989","unstructured":"Hsueh, A.J. et al. Granulosa cells as hormone targets: the role of biologically active follicle-stimulating-hormone in reproduction. Recent Prog. horm. Res. 45, 209\u2013277 (1989).","journal-title":"Recent Prog. horm. Res."},{"key":"BFng099383_CR3","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1089\/dna.1987.6.205","volume":"6","author":"PC Watkins","year":"1987","unstructured":"Watkins, P.C. et al. DNA sequence and regional assignment of the human follicle-stimulating hormone b-subunit gene to the short arm of human chromosome 11. DNA 6, 205\u2013212 (1987).","journal-title":"DNA"},{"key":"BFng099383_CR4","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1210\/mend-2-9-806","volume":"2","author":"JL Jameson","year":"1988","unstructured":"Jameson, J.L., Becker, C.B., Lindell, C.M. & Habener, J.F. Human follicle-stimulating hormone \u03b2-subunit gene encodes multiple messenger ribonucleic acids. Molec. Endocrinol. 2, 806\u2013815 (1988).","journal-title":"Molec. Endocrinol."},{"key":"BFng099383_CR5","doi-asserted-by":"publisher","first-page":"2291","DOI":"10.1002\/j.1460-2075.1989.tb08355.x","volume":"8","author":"Y Hayashizaki","year":"1989","unstructured":"Hayashizaki, Y., Hiraoka, Y., Endo, Y. & Matsubara, K. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the \u03b2-subunit. EMBO J. 8, 2291\u20132296 (1989).","journal-title":"EMBO J."},{"key":"BFng099383_CR6","first-page":"988","volume":"46","author":"C Dacou-Voutetakis","year":"1990","unstructured":"Dacou-Voutetakis, C., Feltquate, D.M., Drakopoulou, M., Kourides, I.A. & Dracopoli, N.C. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone \u03b2-subunit gene. Am. J. hum. Genet. 46, 988\u2013993 (1990).","journal-title":"Am. J. hum. Genet."},{"key":"BFng099383_CR7","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1056\/NEJM199201163260306","volume":"326","author":"J Weiss","year":"1992","unstructured":"Weiss, J. et al. Hypogonadism caused by a single amino acid substitution in the \u03b2-subunit of luteinising hormone. New Engl. J. Med. 326, 179\u2013183 (1992).","journal-title":"New Engl. J. Med."},{"key":"BFng099383_CR8","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1056\/NEJM197901183000306","volume":"300","author":"D Rabinowitz","year":"1979","unstructured":"Rabinowitz, D., Benveniste, R., Lindner, J., Lorber, D. & Daniell, J. Isolated FSH deficiency revisited. New Engl. J. Med. 300, 126\u2013128 (1979).","journal-title":"New Engl. J. Med."},{"key":"BFng099383_CR9","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1016\/S0015-0282(16)42734-2","volume":"28","author":"GB Maroulis","year":"1977","unstructured":"Maroulis, G.B., Parlow, A.F. & Marshall, J.R. Isolated follicle stimulating hormone deficiency in man. Fertil. Steril. 28, 818\u2013822 (1977).","journal-title":"Fertil. Steril."},{"key":"BFng099383_CR10","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1016\/S0015-0282(16)48148-3","volume":"42","author":"AAK Al-Ansari","year":"1984","unstructured":"Al-Ansari, A.A.K., Khalil, T.H., Kelani, Y. & Mortimer, C.H. Isolated follicle-stimulating hormone deficiency in men: success of long-term gonadotrophin therapy. Fertil. Steril. 42, 618\u2013626 (1984).","journal-title":"Fertil. Steril."},{"key":"BFng099383_CR11","first-page":"289","volume":"21","author":"A Benedetti","year":"1991","unstructured":"Benedetti, A. & Tedeschini, G. Difetto congenito isolato di follicolotropina. Aspetti clinici, diagnostico e terapautici. Giornale di clinica Medica 21, 289\u2013295 (1991).","journal-title":"Giornale di clinica Medica"},{"key":"BFng099383_CR12","doi-asserted-by":"crossref","first-page":"4769","DOI":"10.1016\/S0021-9258(18)83656-0","volume":"264","author":"JL Keene","year":"1989","unstructured":"Keene, J.L. et al. Expression of biologically active human follitropin in Chinese hamster ovary cells. J. biol. Chem. 264, 4769\u20134775 (1989).","journal-title":"J. biol. Chem."},{"key":"BFng099383_CR13","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/1043-2760(92)90088-I","volume":"3","author":"JA Dias","year":"1992","unstructured":"Dias, J.A. Progress and approaches in mapping the surfaces of human follicle-stimulating hormone. Trends Endocrinol. Metab. 3, 24\u201329 (1992).","journal-title":"Trends Endocrinol. Metab."},{"key":"BFng099383_CR14","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1073\/pnas.88.3.760","volume":"88","author":"RK Campbell","year":"1991","unstructured":"Campbell, R.K., Dean-Emig, D.M. & Moyle, W.R. Conversion of human choriogonadotrophin into a follitropin by protein engineering. Proc. natn. Acad. Sci. U.S.A. 88, 760\u2013764 (1991).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng099383_CR15","doi-asserted-by":"crossref","first-page":"5037","DOI":"10.1016\/S0021-9258(19)34080-3","volume":"265","author":"TA Santa-Coloma","year":"1990","unstructured":"Santa-Coloma, T.A. & Reichert, L.E. Identification of a follicle-stimulating hormone receptor-binding region in hFSH \u03b2 (81-95) using synthetic peptides. J. biol. Chem. 265, 5037\u20135042 (1990).","journal-title":"J. biol. Chem."},{"key":"BFng099383_CR16","doi-asserted-by":"publisher","first-page":"1797","DOI":"10.1210\/endo-128-4-1797","volume":"128","author":"DD Vakharia","year":"1991","unstructured":"Vakharia, D.D., Dias, J.A. & Anderson, T.T. Determination of subunit contact associated epitopes of the \u03b2-subunit of human follicle-stimulating hormone. Endocrinology 128, 1797\u20131804 (1991).","journal-title":"Endocrinology"},{"key":"BFng099383_CR17","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/0303-7207(92)90128-S","volume":"85","author":"DD Vakharia","year":"1992","unstructured":"Vakharia, D.D., Bryant, S.H. & Dias, J.A. Topographic analysis of human follicle-stimulating hormone \u03b2 using anti-peptide antisera. Molec. Cell. Endocrinol. 85, 89\u201397 (1992).","journal-title":"Molec. Cell. Endocrinol."},{"key":"BFng099383_CR18","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1677\/jme.0.0050097","volume":"5","author":"C Azuma","year":"1990","unstructured":"Azuma, C. et al. Site-specific mutagenesis of human chorionic gonadotrophin (hCG) \u03b2 subunit: influence of mutation on hCG production. J. molec. Endocrinol. 5, 97\u2013102 (1990).","journal-title":"J. molec. Endocrinol."},{"key":"BFng099383_CR19","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1093\/oxfordjournals.aje.a115332","volume":"130","author":"PA Marchbanks","year":"1989","unstructured":"Marchbanks, P.A., Peterson, H.B., Rubin, G.L. & Wingo, P.A. Cancer and steroid hormone study group. Research on infertility: definition makes a difference. Am. J. Epidemiol. 130, 259\u2013267 (1989).","journal-title":"Am. J. Epidemiol."},{"key":"BFng099383_CR20","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1056\/NEJM199201163260309","volume":"326","author":"SJ Winters","year":"1992","unstructured":"Winters, S.J. Expanding the differential diagnosis of male hypogonadism. New Engl. J. Med. 326, 193\u2013195 (1992).","journal-title":"New Engl. J. Med."},{"key":"BFng099383_CR21","first-page":"881","volume":"19","author":"D Avril-Ducarne","year":"1990","unstructured":"Avril-Ducarne, D. et al. Apport de l'enquete hormonale au choix therapeutique d'une sterilite masculine. J. Gynecol. Obstet. Biol. Reprod. 19, 881\u2013888 (1990).","journal-title":"J. Gynecol. Obstet. Biol. Reprod."},{"key":"BFng099383_CR22","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1111\/j.1365-2265.1993.tb00983.x","volume":"38","author":"E Nieschlag","year":"1993","unstructured":"Nieschlag, E. Care for the infertile male. Clin. Endocrinol. 38, 123\u2013133 (1993).","journal-title":"Clin. Endocrinol."},{"key":"BFng099383_CR23","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1210\/jcem-65-4-629","volume":"65","author":"C Wang","year":"1987","unstructured":"Wang, C., Dahl, K.D., Leung, A., Chan, S.Y.W. & Hsueh, A.J.W. Serum bioactive follicle-stimulating hormone in men with idiopathic azoospermia and oligospermia. J. clin. Endocrinol. Metab. 65, 629\u2013633 (1987).","journal-title":"J. clin. Endocrinol. Metab."},{"key":"BFng099383_CR24","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1530\/acta.0.1210802","volume":"121","author":"F Jockenhovel","year":"1989","unstructured":"Jockenhovel, F., Khan, S.A. & Nieschlag, E. Diagnostic value of bioactive FSH in male infertility. Acta Endocrinol. 121, 802\u2013810 (1989).","journal-title":"Acta Endocrinol."},{"key":"BFng099383_CR25","doi-asserted-by":"publisher","first-page":"1089","DOI":"10.1210\/endo-121-3-1089","volume":"121","author":"V Padmanabhan","year":"1987","unstructured":"Padmanabhan, V., Chappel, S.C. & Beitins, I.Z. An improved in vitro bioassay for follicle-stimulating hormone (FSH): suitable for measurement of FSH in unextracted human serum. Endocrinology 121, 1089\u20131098 (1987).","journal-title":"Endocrinology"},{"key":"BFng099383_CR26","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1210\/jcem-73-3-525","volume":"73","author":"P Beck-Peccoz","year":"1991","unstructured":"Beck-Peccoz, P. et al. Maturation of hypothalamic-pituitary-gonadal function in normal human fetuses: circulating levels of gonadotrophins, their common a-subunit and free testosterone, and discrepancy between immunological and biological activities of circulating FSH. J. clin. Endocrinol. Metab. 73, 525\u2013532 (1991).","journal-title":"J. clin. Endocrinol. Metab."},{"key":"BFng099383_CR27","doi-asserted-by":"publisher","first-page":"4937","DOI":"10.1093\/nar\/17.13.4937","volume":"17","author":"T Hultman","year":"1989","unstructured":"Hultman, T., Stahl, S., Hornes, E. & Uhlen, M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucl. Acids Res. 17, 4937\u20134946 (1989).","journal-title":"Nucl. Acids Res."},{"key":"BFng099383_CR28","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger, F., Nicklen, S. & Coulson, A.R. DNA Sequencing with chain-terminating inhibitors. Proc. natn. Acad. Sci. U.S.A. 74, 5463\u20135467 (1977).","journal-title":"Proc. natn. Acad. Sci. U.S.A."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0993-83","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0993-83.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0993-83.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:57:43Z","timestamp":1684443463000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0993-83"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,9]]}},"alternative-id":["BFng099383"],"URL":"https:\/\/doi.org\/10.1038\/ng0993-83","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9]]}}}