{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:45:20Z","timestamp":1791978320511,"version":"4.4.0"},"reference-count":23,"publisher":"American Society for Clinical Investigation","issue":"20","funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust, UK","doi-asserted-by":"crossref","award":["WT091310"],"award-info":[{"award-number":["WT091310"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust, UK","doi-asserted-by":"crossref","award":["100585\/Z\/12\/Z"],"award-info":[{"award-number":["100585\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"crossref","award":["095564\/Z\/11\/Z"],"award-info":[{"award-number":["095564\/Z\/11\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institute for Health Research Cambridge Biomedical Research Center","award":["Unknown"],"award-info":[{"award-number":["Unknown"]}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust, UK","doi-asserted-by":"crossref","award":["098051"],"award-info":[{"award-number":["098051"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000272","name":"NIHR","doi-asserted-by":"crossref","award":["Senior Investigator Award"],"award-info":[{"award-number":["Senior Investigator Award"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R37DK15070"],"award-info":[{"award-number":["R37DK15070"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004410","name":"Scientific and Technological Research Council of Turkey","doi-asserted-by":"crossref","award":["116S389."],"award-info":[{"award-number":["116S389."]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,18]]},"abstract":"<jats:p>\n                    Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in\n                    <jats:italic>SLC26A7<\/jats:italic>\n                    in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in\n                    <jats:italic>Slc26a7<\/jats:italic>\n                    -null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation.\n                    <jats:italic>SLC26A7<\/jats:italic>\n                    is a member of the same transporter family as\n                    <jats:italic>SLC26A4<\/jats:italic>\n                    (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. However, in contrast to pendrin, SLC26A7 does not mediate cellular iodide efflux and hearing in affected individuals is normal. We delineate a hitherto unrecognized role for SLC26A7 in thyroid hormone biosynthesis, for which the mechanism remains unclear.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.99631","type":"journal-article","created":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T11:01:49Z","timestamp":1539774109000},"source":"Crossref","is-referenced-by-count":64,"title":["Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism"],"prefix":"10.1172","volume":"3","author":[{"given":"Hakan","family":"Cangul","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medipol University, International School of Medicine, Istanbul, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Hui","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Schoenmakers","sequence":"additional","affiliation":[{"name":"Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke\u2019s Hospital, University of Cambridge, Cambridge, United Kingdom (UK)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8767-7222","authenticated-orcid":true,"given":"Jukka","family":"Kero","sequence":"additional","affiliation":[{"name":"Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland"},{"name":"Department of Paediatrics, Turku University Hospital, Turku, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Barone","sequence":"additional","affiliation":[{"name":"University of Cincinnati and Veterans Administration Hospital, Cincinnati, Ohio, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panudda","family":"Srichomkwun","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5218-5815","authenticated-orcid":true,"given":"Hideyuki","family":"Iwayama","sequence":"additional","affiliation":[{"name":"Department of Medicine, The University of Chicago, Chicago, Illinois, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva G.","family":"Serra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0710-5422","authenticated-orcid":true,"given":"Halil","family":"Saglam","sequence":"additional","affiliation":[{"name":"Uludag University School of Medicine, Department of Paediatric Endocrinology, Bursa, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1684-1053","authenticated-orcid":true,"given":"Erdal","family":"Eren","sequence":"additional","affiliation":[{"name":"Uludag University School of Medicine, Department of Paediatric Endocrinology, Bursa, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer","family":"Tarim","sequence":"additional","affiliation":[{"name":"Uludag University School of Medicine, Department of Paediatric Endocrinology, Bursa, Turkey."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline K.","family":"Nicholas","sequence":"additional","affiliation":[{"name":"Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke\u2019s Hospital, University of Cambridge, Cambridge, United Kingdom (UK)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Zvetkova","sequence":"additional","affiliation":[{"name":"Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke\u2019s Hospital, University of Cambridge, Cambridge, United Kingdom (UK)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl A.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona E. Karet","family":"Frankl","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Division of Renal Medicine, University of Cambridge, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristien","family":"Boelaert","sequence":"additional","affiliation":[{"name":"Institute of Metabolism and Systems Research, University of Birmingham and Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Edgbaston, Birmingham, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2660-1758","authenticated-orcid":true,"given":"Marja","family":"Ojaniemi","sequence":"additional","affiliation":[{"name":"PEDEGO Research Center and MRC Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jarmo","family":"J\u00e4\u00e4skel\u00e4inen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Eastern Finland and Kuopio University, Hospital, Kuopio, Finland."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Patyra","sequence":"additional","affiliation":[{"name":"Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoffer","family":"L\u00f6f","sequence":"additional","affiliation":[{"name":"Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Dillwyn","family":"Williams","sequence":"additional","affiliation":[{"name":"Thyroid Carcinogenesis Group, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UK10K Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoocher","family":"Soleimani","sequence":"additional","affiliation":[{"name":"University of Cincinnati and Veterans Administration Hospital, Cincinnati, Ohio, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6873-0750","authenticated-orcid":true,"given":"Timothy","family":"Barrett","sequence":"additional","affiliation":[{"name":"Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham and Department of Endocrinology, Birmingham Children\u2019s Hospital, Birmingham, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R.","family":"Maher","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. 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