{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:21Z","timestamp":1772160081842,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Thyroid peroxidase (\n                    <jats:italic>TPO<\/jats:italic>\n                    ) gene mutations have been reported as the most commonly reported pathogenic variants in congenital hypothyroidism (CH) caused by thyroid hormone (TH) synthesis disorders, the significance of some mutations remains unclear. The study analyzed 54 children diagnosed with CH who underwent whole\u2010exome sequencing (WES). Functional analysis of the\n                    <jats:italic>TPO<\/jats:italic>\n                    p.K78Q variant, a novel variant of uncertain significance (VUS), revealed that it caused developmental defects in zebrafish and also disrupted thyroid axis gene expression, decreasing\n                    <jats:italic>tg<\/jats:italic>\n                    ,\n                    <jats:italic>dio1<\/jats:italic>\n                    ,\n                    <jats:italic>dio2<\/jats:italic>\n                    ,\n                    <jats:italic>tr\u03b2<\/jats:italic>\n                    ,\n                    <jats:italic>nis<\/jats:italic>\n                    ,\n                    <jats:italic>ttr<\/jats:italic>\n                    and increasing\n                    <jats:italic>tsh\u03b2<\/jats:italic>\n                    ,\n                    <jats:italic>tr\u03b1<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.14754","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T05:24:06Z","timestamp":1744608246000},"page":"468-473","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Screening and Functional Analysis of\n                    <scp>TPO<\/scp>\n                    Gene Mutations in Patients With Congenital Hypothyroidism"],"prefix":"10.1111","volume":"108","author":[{"given":"Shiyi","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Inborn Metabolic Diseases Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center)  Fuzhou Fujian China"},{"name":"College of Clinical Medicine for Obstetrics &amp; Gynecology and Pediatrics Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaying","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Inborn Metabolic Diseases Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center)  Fuzhou Fujian China"},{"name":"College of Clinical Medicine for Obstetrics &amp; Gynecology and Pediatrics Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuting","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Inborn Metabolic Diseases Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center)  Fuzhou Fujian China"},{"name":"College of Clinical Medicine for Obstetrics &amp; Gynecology and Pediatrics Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Inborn Metabolic Diseases Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center)  Fuzhou Fujian China"},{"name":"College of Clinical Medicine for Obstetrics &amp; Gynecology and Pediatrics Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.4103\/2230-8210.131748"},{"issue":"4","key":"e_1_2_10_3_1","first-page":"948","article-title":"Molecular Genetics of Congenital Isolated Thyrotropin Deficiency","volume":"52","author":"Miyai K.","year":"1994","journal-title":"Nihon Rinsho"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ped4.12324"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2020.0333"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1891"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s42000-020-00267-x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.860862"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2022-060420"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1067"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/FPC.0b013e3283448d19"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.02.008"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa308"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2015-010719"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2009.01236.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2503"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.28317"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2019-0047"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.59249\/SSRG6507"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0777"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1996.tb00664.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14754","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T02:45:50Z","timestamp":1756867550000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14754"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,14]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1111\/cge.14754"],"URL":"https:\/\/doi.org\/10.1111\/cge.14754","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14754\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14754\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14754\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14754\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14754\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14754\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14754\/v1\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,14]]},"assertion":[{"value":"2025-02-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}