{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:32:16Z","timestamp":1787063536184,"version":"build-2736575974"},"reference-count":47,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2018,2,7]],"date-time":"2018-02-07T00:00:00Z","timestamp":1517961600000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-133557"],"award-info":[{"award-number":["MOP-133557"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","award":["2015-05178"],"award-info":[{"award-number":["2015-05178"]}],"id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,1]]},"DOI":"10.1210\/js.2017-00478","type":"journal-article","created":{"date-parts":[[2018,2,6]],"date-time":"2018-02-06T14:06:34Z","timestamp":1517925994000},"page":"220-231","source":"Crossref","is-referenced-by-count":25,"title":["From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function"],"prefix":"10.1210","volume":"2","author":[{"given":"Daniel J","family":"Bernard","sequence":"first","affiliation":[{"name":"Department of Pharmacology and Therapeutics, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"},{"name":"Department of Anatomy and Cell Biology, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Br\u00fbl\u00e9","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney L","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Therapeutics, McGill University, Montr\u00e9al, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjoerd D","family":"Joustra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan M","family":"Wit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2018,2,6]]},"reference":[{"issue":"1-2","key":"2019041121443865700_B1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(98)00253-4","article-title":"Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25","volume":"214","author":"Frattini","year":"1998","journal-title":"Gene"},{"issue":"2","key":"2019041121443865700_B2","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1006\/geno.1997.5156","article-title":"Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25","volume":"48","author":"Mazzarella","year":"1998","journal-title":"Genomics"},{"issue":"7","key":"2019041121443865700_B3","doi-asserted-by":"crossref","first-page":"2600","DOI":"10.1210\/endo.141.7.7540","article-title":"Structure and expression of a membrane component of the inhibin receptor system","volume":"141","author":"Chong","year":"2000","journal-title":"Endocrinology"},{"issue":"5","key":"2019041121443865700_B4","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1210\/er.2014-1003","article-title":"Inhibin at 90: from discovery to clinical application, a historical review","volume":"35","author":"Makanji","year":"2014","journal-title":"Endocr Rev"},{"issue":"4","key":"2019041121443865700_B5","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1210\/mend.15.4.0616","article-title":"Modulation of activin signal transduction by inhibin B and inhibin-binding protein (INhBP)","volume":"15","author":"Chapman","year":"2001","journal-title":"Mol Endocrinol"},{"issue":"6776","key":"2019041121443865700_B6","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/35006129","article-title":"Betaglycan binds inhibin and can mediate functional antagonism of activin signalling","volume":"404","author":"Lewis","year":"2000","journal-title":"Nature"},{"issue":"1-2","key":"2019041121443865700_B7","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0303-7207(02)00227-7","article-title":"Properties of inhibin binding to betaglycan, InhBP\/p120 and the activin type II receptors","volume":"196","author":"Chapman","year":"2002","journal-title":"Mol Cell Endocrinol"},{"issue":"5","key":"2019041121443865700_B8","doi-asserted-by":"crossref","first-page":"2309","DOI":"10.1210\/en.2006-1612","article-title":"Inhibin A and B in vitro bioactivities are modified by their degree of glycosylation and their affinities to betaglycan","volume":"148","author":"Makanji","year":"2007","journal-title":"Endocrinology"},{"issue":"10","key":"2019041121443865700_B9","doi-asserted-by":"crossref","first-page":"4784","DOI":"10.1210\/en.2008-1783","article-title":"Inhibin B is a more potent suppressor of rat follicle-stimulating hormone release than inhibin a in vitro and in vivo","volume":"150","author":"Makanji","year":"2009","journal-title":"Endocrinology"},{"issue":"24","key":"2019041121443865700_B10","doi-asserted-by":"crossref","first-page":"16743","DOI":"10.1074\/jbc.M801045200","article-title":"Suppression of inhibin A biological activity by alterations in the binding site for betaglycan","volume":"283","author":"Makanji","year":"2008","journal-title":"J Biol Chem"},{"issue":"25","key":"2019041121443865700_B11","doi-asserted-by":"crossref","first-page":"17011","DOI":"10.1074\/jbc.M601459200","article-title":"Identification of distinct inhibin and transforming growth factor beta-binding sites on betaglycan: functional separation of betaglycan co-receptor actions","volume":"281","author":"Wiater","year":"2006","journal-title":"J Biol Chem"},{"issue":"7","key":"2019041121443865700_B12","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1210\/me.2009-0021","article-title":"Endogenous betaglycan is essential for high-potency inhibin antagonism in gonadotropes","volume":"23","author":"Wiater","year":"2009","journal-title":"Mol Endocrinol"},{"issue":"1-2","key":"2019041121443865700_B13","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0303-7207(01)00499-3","article-title":"Inhibin binding sites and proteins in pituitary, gonadal, adrenal and bone cells","volume":"180","author":"Farnworth","year":"2001","journal-title":"Mol Cell Endocrinol"},{"issue":"14","key":"2019041121443865700_B14","doi-asserted-by":"crossref","first-page":"4882","DOI":"10.1128\/MCB.23.14.4882-4891.2003","article-title":"Normal reproductive function in InhBP\/p120-deficient mice","volume":"23","author":"Bernard","year":"2003","journal-title":"Mol Cell Biol"},{"issue":"12","key":"2019041121443865700_B15","doi-asserted-by":"crossref","first-page":"4371","DOI":"10.1128\/MCB.23.12.4371-4385.2003","article-title":"Heart and liver defects and reduced transforming growth factor beta2 sensitivity in transforming growth factor beta type III receptor-deficient embryos","volume":"23","author":"Stenvers","year":"2003","journal-title":"Mol Cell Biol"},{"issue":"52","key":"2019041121443865700_B16","doi-asserted-by":"crossref","first-page":"36369","DOI":"10.1074\/jbc.M807527200","article-title":"An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein","volume":"283","author":"Robakis","year":"2008","journal-title":"J Biol Chem"},{"issue":"12","key":"2019041121443865700_B17","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1038\/ng.2453","article-title":"Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement","volume":"44","author":"Sun","year":"2012","journal-title":"Nat Genet"},{"issue":"1","key":"2019041121443865700_B18","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1677\/joe.0.1820055","article-title":"Activin and inhibin receptor gene expression in the ewe pituitary throughout the oestrous cycle","volume":"182","author":"Fafioffe","year":"2004","journal-title":"J Endocrinol"},{"issue":"1","key":"2019041121443865700_B19","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/j.1447-0756.2009.01103.x","article-title":"Aberrantly increased mRNA expression of betaglycan, an inhibin co-receptor in the ovarian tissues in women with polycystic ovary syndrome","volume":"36","author":"Zhu","year":"2010","journal-title":"J Obstet Gynaecol Res"},{"issue":"3","key":"2019041121443865700_B20","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1210\/jcem.87.3.8340","article-title":"Inhibin-activin receptor subunit gene expression in ovarian tumors","volume":"87","author":"Fuller","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2019041121443865700_B21","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1158\/0008-5472.CAN-04-3078","article-title":"Gene expression profile of papillary thyroid cancer: sources of variability and diagnostic implications","volume":"65","author":"Jarzab","year":"2005","journal-title":"Cancer Res"},{"issue":"23","key":"2019041121443865700_B22","doi-asserted-by":"crossref","first-page":"3737","DOI":"10.1038\/sj.onc.1208479","article-title":"An integrated data analysis approach to characterize genes highly expressed in hepatocellular carcinoma","volume":"24","author":"Patil","year":"2005","journal-title":"Oncogene"},{"issue":"13","key":"2019041121443865700_B23","doi-asserted-by":"crossref","first-page":"5682","DOI":"10.1093\/nar\/gkr155","article-title":"Transcriptional gene silencing in mammalian cells by miRNA mimics that target gene promoters","volume":"39","author":"Younger","year":"2011","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"2019041121443865700_B24","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1159\/000438672","article-title":"Combined growth hormone and thyroid-stimulating hormone deficiency in a japanese patient with a novel frameshift mutation in IGSF1","volume":"84","author":"Asakura","year":"2015","journal-title":"Horm Res Paediatr"},{"key":"2019041121443865700_B25","doi-asserted-by":"crossref","first-page":"42937","DOI":"10.1038\/srep42937","article-title":"The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGF\u03b2 and Activin pathways","volume":"7","author":"Garc\u00eda","year":"2017","journal-title":"Sci Rep"},{"issue":"4","key":"2019041121443865700_B26","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/cen.13094","article-title":"Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism","volume":"85","author":"Hughes","year":"2016","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"4","key":"2019041121443865700_B27","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1210\/jc.2015-3880","article-title":"IGSF1 Deficiency: Lessons from an extensive case series and recommendations for clinical management","volume":"101","author":"Joustra","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2019041121443865700_B28","doi-asserted-by":"crossref","first-page":"4942","DOI":"10.1210\/jc.2013-2743","article-title":"The IGSF1 deficiency syndrome: characteristics of male and female patients","volume":"98","author":"Joustra","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2019041121443865700_B29","doi-asserted-by":"crossref","first-page":"E1682","DOI":"10.1210\/jc.2013-1224","article-title":"Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism","volume":"98","author":"Nakamura","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2019041121443865700_B30","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1089\/thy.2016.0005","article-title":"A Japanese family with central hypothyroidism caused by a novel IGSF1 mutation","volume":"26","author":"Nishigaki","year":"2016","journal-title":"Thyroid"},{"key":"2019041121443865700_B31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13633-015-0003-5","article-title":"Congenital nystagmus and central hypothyroidism","volume":"2015","author":"Reynaert","year":"2015","journal-title":"Int J Pediatr Endocrinol"},{"issue":"2","key":"2019041121443865700_B32","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1507\/endocrj.EJ13-0009","article-title":"A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism","volume":"60","author":"Tajima","year":"2013","journal-title":"Endocr J"},{"issue":"12","key":"2019041121443865700_B33","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1089\/thy.2015.0672","article-title":"Familial central hypothyroidism caused by a novel IGSF1 gene mutation","volume":"26","author":"Tenenbaum-Rakover","year":"2016","journal-title":"Thyroid"},{"issue":"1","key":"2019041121443865700_B34","doi-asserted-by":"crossref","first-page":"86","DOI":"10.4274\/jcrpe.2512","article-title":"Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome","volume":"8","author":"Van Hulle","year":"2016","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"6","key":"2019041121443865700_B35","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1210\/js.2017-00107","article-title":"A novel IGSF1 mutation in a boy with short stature and hypercholesterolemia: a case report","volume":"1","author":"Heinen","year":"2017","journal-title":"J Endocr Soc"},{"issue":"1","key":"2019041121443865700_B36","doi-asserted-by":"crossref","first-page":"e24883","DOI":"10.4161\/rdis.24883","article-title":"IGSF1 deficiency syndrome: a newly uncovered endocrinopathy","volume":"1","author":"Joustra","year":"2013","journal-title":"Rare Dis"},{"issue":"2","key":"2019041121443865700_B37","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.beem.2017.04.003","article-title":"The multiple genetic causes of central hypothyroidism","volume":"31","author":"Persani","year":"2017","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"3-4","key":"2019041121443865700_B38","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1159\/000439433","article-title":"Pituitary hormone secretion profiles in IGSF1 deficiency syndrome","volume":"103","author":"Joustra","year":"2016","journal-title":"Neuroendocrinology"},{"issue":"6","key":"2019041121443865700_B39","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1111\/cen.12947","article-title":"Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome","volume":"84","author":"Joustra","year":"2016","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"3","key":"2019041121443865700_B40","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1530\/JOE-15-0204","article-title":"Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat","volume":"226","author":"Joustra","year":"2015","journal-title":"J Endocrinol"},{"issue":"10","key":"2019041121443865700_B41","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/nrendo.2017.47","article-title":"Central hypothyroidism - a neglected thyroid disorder","volume":"13","author":"Beck-Peccoz","year":"2017","journal-title":"Nat Rev Endocrinol"},{"issue":"4","key":"2019041121443865700_B42","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1210\/mend.15.4.0630","article-title":"Inhibin binding protein in rats: alternative transcripts and regulation in the pituitary across the estrous cycle","volume":"15","author":"Bernard","year":"2001","journal-title":"Mol Endocrinol"},{"issue":"7","key":"2019041121443865700_B43","doi-asserted-by":"crossref","first-page":"e0180731","DOI":"10.1371\/journal.pone.0180731","article-title":"The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein","volume":"12","author":"Wang","year":"2017","journal-title":"PLoS One"},{"issue":"4","key":"2019041121443865700_B44","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1210\/en.2016-1788","article-title":"trh action is impaired in pituitaries of male IGSF1-deficient mice","volume":"158","author":"Turgeon","year":"2017","journal-title":"Endocrinology"},{"issue":"1","key":"2019041121443865700_B45","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1677\/jme.0.0280033","article-title":"Expression profile of active genes in the human pituitary gland","volume":"28","author":"Tanaka","year":"2002","journal-title":"J Mol Endocrinol"},{"key":"2019041121443865700_B46","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.npep.2015.08.001","article-title":"Role of thyrotropin-releasing hormone in prolactin-producing cell models","volume":"54","author":"Kanasaki","year":"2015","journal-title":"Neuropeptides"},{"key":"2019041121443865700_B47","first-page":"263","article-title":"Macroorchidism in childhood and adolescence: an update","volume":"11","author":"De Sanctis","year":"2014","journal-title":"Pediatr Endocrinol Rev"}],"container-title":["Journal of the Endocrine Society"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jes\/article-pdf\/2\/3\/220\/24062169\/js.2017-00478.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T07:03:22Z","timestamp":1555052602000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jes\/article\/2\/3\/220\/4840686"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,6]]},"references-count":47,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,2,6]]},"published-print":{"date-parts":[[2018,3,1]]}},"URL":"https:\/\/doi.org\/10.1210\/js.2017-00478","relation":{},"ISSN":["2472-1972"],"issn-type":[{"value":"2472-1972","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,3]]},"published":{"date-parts":[[2018,2,6]]}}}