{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:22:39Z","timestamp":1777875759839,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2020,5]]},"abstract":"\n The\n thyroglobulin<\/jats:italic>\n (\n TG<\/jats:italic>\n ) gene encodes a protein required for thyroid hormone synthesis and iodine storage. Deleterious\n TG<\/jats:italic>\n mutations produce congenital hypothyroidism (CH) often presenting with undetectable serum TG. Alu elements, common throughout the human genome, have a poly(dA) region in the 3\u2032 end of the strand. Herein two of four siblings of a consanguineous Sudanese family with CH, goiter, high initial serum thyrotropin, and undetectable TG were found to have a novel frameshift insertion of an Alu element within an exon of the\n TG<\/jats:italic>\n gene: c.7909ins p.Y3637Ffs. This report demonstrates a novel Alu element insertion within\n TG<\/jats:italic>\n causing CH.\n <\/jats:p>","DOI":"10.1089\/thy.2019.0636","type":"journal-article","created":{"date-parts":[[2019,12,21]],"date-time":"2019-12-21T04:05:50Z","timestamp":1576901150000},"page":"780-782","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism"],"prefix":"10.1177","volume":"30","author":[{"given":"Ryan","family":"Bruellman","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yui","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reham","family":"Shareef","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Faculty of Medicine, University of Almughtaribeen, Khartoum, Sudan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed A.","family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Dumitrescu","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard S.","family":"Strauss","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Genetics and University of Chicago, Chicago, Illinois, USA."},{"name":"Department of Pediatrics, University of Chicago, Chicago, Illinois, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roy E.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,5,7]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-019-0184-8"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2017.03.006"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(84)90036-6"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13100-016-0065-9"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.1992.2.321"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2010.5"},{"key":"e_1_3_5_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3213"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-9-40"},{"key":"e_1_3_5_10_2","doi-asserted-by":"publisher","DOI":"10.1210\/er.2015-1090"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2019.0636","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2019.0636","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2019.0636","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:06:42Z","timestamp":1777586802000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2019.0636"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1089\/thy.2019.0636"],"URL":"https:\/\/doi.org\/10.1089\/thy.2019.0636","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5]]}}}