{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T14:59:53Z","timestamp":1778770793183,"version":"3.51.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2011]]},"abstract":"<i>Background\/Aims:<\/i> Recent studies have pointed to the correlation between <i>FOXE1<\/i> polyalanine tract (<i>FOXE1<\/i>-polyAla) length polymorphism and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism. The objective of this study was a first assessment of the role of <i>FOXE1<\/i>-polyAla expansion in the genetic background of thyroid hemiagenesis (TH). <i>Methods:<\/i> The group studied consisted of 40 patients with TH, including 6 familial cases and a control group of 89 subjects with a normal thyroid. The polyAla tract and flanking sequence of <i>FOXE1 <\/i>was amplified using conventional PCR. Subsequently, capillary electrophoresis was performed to estimate the length of products. <i>Results:<\/i> A short variant of <i>FOXE1<\/i>-polyAla, containing 12 alanines, was present in 5 control subjects (5.6%), but was not found in TH. The incidence of longer variants (\u226716 codons) of <i>FOXE1<\/i>-polyAla was significantly higher in patients with the familial form of TH in comparison to those with sporadic TH (p = 0.003) and controls (p = 0.005). <i>Conclusions:<\/i> There is high polymorphic variability of <i>FOXE1<\/i>-polyAla in both groups. Shorter variants of <i>FOXE1<\/i>-polyAla are underrepresented in subjects with familial TH. Therefore, <i>FOXE1<\/i>-polyAla tract expansion may contribute to the molecular background of familial but not sporadic forms of TH. Further studies are still required to confirm such findings.<\/jats:p>","DOI":"10.1159\/000322874","type":"journal-article","created":{"date-parts":[[2011,2,10]],"date-time":"2011-02-10T07:57:44Z","timestamp":1297324664000},"page":"329-334","source":"Crossref","is-referenced-by-count":29,"title":["FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid"],"prefix":"10.1159","volume":"75","author":[{"given":"Ewelina","family":"Szczepanek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Ruchala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Witold","family":"Szaflarski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bartlomiej","family":"Budny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidia","family":"Kilinska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Jaroniec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Niedziela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maciej","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Sowinski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2011,2,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.clinbiochem.2006.03.015"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159%2F000080494"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fdvdy.10118"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2006-0405"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2F1289"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1399-0004.2003.00107.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.26.1.49"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-007-0420-5"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddh251"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1530%2Feje.0.1450385"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2FS0300-9084%2899%2980092-3"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1089%2F1050725041692864"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1530%2FEJE-09-0590"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210%2Fen.2005-0882"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2Fgnfd.200290001"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2FS0092-8674%2800%2980260-3"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322874","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322874","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:15:30Z","timestamp":1745435730000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000322874"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2011,5,1]]},"published-print":{"date-parts":[[2011,5,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000322874","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}