Publication:
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

dc.contributor.buuauthorSağlam, Halil
dc.contributor.buuauthorEren, Erdal
dc.contributor.buuauthorTarım, Ömer Faruk
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentPediatrik Endokrinoloji Ana Bilim Dalı
dc.contributor.orcid0000-0002-1684-1053
dc.contributor.orcid000-0003-0710-5422
dc.contributor.researcheridC-7392-2019
dc.contributor.researcheridJPK-3909-2023
dc.contributor.researcheridCCU-8073-2022
dc.contributor.scopusid35612700100
dc.contributor.scopusid36113153400
dc.contributor.scopusid6701427186
dc.date.accessioned2024-03-08T07:25:41Z
dc.date.available2024-03-08T07:25:41Z
dc.date.issued2018-10-18
dc.descriptionÇalışmada 27 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır
dc.description.abstractDefects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-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. SLC26A7 is a member of the same transporter family as SLC26A4 (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.
dc.description.sponsorshipUK Research & Innovation (UKRI) Medical Research Council UK (MRC) (G0502115)
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) (R01 DK015070)
dc.description.sponsorshipWellcome Trust (098051)
dc.description.sponsorshipDepartment of Health
dc.description.sponsorshipUK Research & Innovation (UKRI) Medical Research Council UK (MRC) (MC_UU_00014/5)
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) (R01DK015070)
dc.description.sponsorshipUS Department of Veterans Affairs (I01BX001000)
dc.identifier.citationCangül, H. vd. (2018). ''Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism''. JCI Insight, 3(20).
dc.identifier.doihttps://doi.org/10.1172/jci.insight.99631
dc.identifier.issn2379-3708
dc.identifier.issue20
dc.identifier.pubmed30333321
dc.identifier.scopus2-s2.0-85063240536
dc.identifier.urihttps://insight.jci.org/articles/view/99631
dc.identifier.urihttps://hdl.handle.net/11452/40284
dc.identifier.volume3
dc.identifier.wos000447709700003
dc.indexed.scopusScopus
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherAmerican Society for Clinical Investigation
dc.relation.collaborationYurt dışı
dc.relation.collaborationYurt içi
dc.relation.collaborationSanayi
dc.relation.journalJCI Insight
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectResearch & experimental medicine
dc.subjectParietal-cells
dc.subjectIdentification
dc.subjectChannel
dc.subjectDisease
dc.subject.scopusAutosomal Recessive 4 Deafness; Vestibule Aqueduct; Mutation
dc.subject.wosMedicine, research & experimental
dc.titleHomozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
dc.typeArticle
dc.wos.quartileN/A
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Pediatrik Endokrinoloji Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS
local.indexed.atScopus

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