{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T20:07:26Z","timestamp":1708632446936},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>A new autosomal dominant disorder due to mutation of <jats:italic>THRA<\/jats:italic>, which encodes thyroid hormone receptor \u03b1, is characterised by severely delayed skeletal development but only slightly abnormal thyroid status. Adult mice with disrupted thyroid hormone action in bone due to a mutation of <jats:italic>Thra<\/jats:italic> or deletion of <jats:italic>Dio2<\/jats:italic>, encoding the type 2 deiodinase, have high bone mass and mineralisation despite essentially euthyroid status. No individuals with <jats:italic>DIO2<\/jats:italic> mutations have been described and the adult phenotype of patients with <jats:italic>THRA<\/jats:italic> mutations is largely unknown. We hypothesised that screening euthyroid adults with high bone mineral density (BMD) could be used to identify individuals with mutations of <jats:italic>THRA<\/jats:italic> or <jats:italic>DIO2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>The Osteoporosis and Ultrasound Study (OPUS) is a 6-year prospective study of fracture-related factors from five European centres.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A cohort of 100 healthy euthyroid post-menopausal women with the highest BMD was selected from the OPUS population. We sequenced the intron\u2013exon boundaries and critical exons of <jats:italic>THRA<\/jats:italic> and <jats:italic>DIO2<\/jats:italic> in these subjects. TSH, free 3,5,3\u2032-<jats:sc>l<\/jats:sc>-triiodothyronine, free thyroxine, vitamin D, parathyroid hormone and bone turnover marker concentrations, and BMD measurements were available in all OPUS participants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No coding sequence or splice site mutations affecting <jats:italic>THRA<\/jats:italic> or <jats:italic>DIO2<\/jats:italic> were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Mutations affecting <jats:italic>THRA<\/jats:italic> or <jats:italic>DIO2<\/jats:italic> are not a common cause of high BMD in healthy euthyroid post-menopausal women.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-13-1009","type":"journal-article","created":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T02:07:14Z","timestamp":1391134034000},"page":"637-644","update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":9,"title":["THRA and DIO2 mutations are unlikely to be a common cause of increased bone mineral density in euthyroid post-menopausal women"],"prefix":"10.1093","volume":"170","author":[{"given":"Apostolos","family":"Gogakos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John G","family":"Logan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian A","family":"Waung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J H Duncan","family":"Bassett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus C","family":"Gl\u00fcer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David M","family":"Reid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Felsenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Roux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Eastell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham R","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"issue":"4","key":"1_41803928","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.tem.2011.11.002","volume":"23","author":"Waung","year":"2012","journal-title":"Trends in endocrinology and metabolism: TEM","ISSN":"http:\/\/id.crossref.org\/issn\/1043-2760","issn-type":"print"},{"issue":"5","key":"2_17130787","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1089\/105072502760043503","volume":"12","author":"Vestergaard","year":"2002","journal-title":"Thyroid : official journal of the American Thyroid Association","ISSN":"http:\/\/id.crossref.org\/issn\/1050-7256","issn-type":"print"},{"issue":"10","key":"3_22634538","doi-asserted-by":"publisher","first-page":"2571","DOI":"10.1172\/JCI29812","volume":"116","author":"Bianco","year":"2006","journal-title":"Journal of Clinical Investigation","ISSN":"http:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"2","key":"4_36290452","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1210\/er.2009-0007","volume":"31","year":"2010","journal-title":"Endocrine Reviews","ISSN":"http:\/\/id.crossref.org\/issn\/0163-769X","issn-type":"print"},{"issue":"2","key":"5_7230630","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1210\/jcem-27-2-279","volume":"27","author":"REFETOFF","year":"1967","journal-title":"Journal of Clinical Endocrinology &amp; 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