Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/355552
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampEsquiaveto-Aun, Adriana Mangue-
dc.contributor.authorunicampZantut-Wittmann, Denise Engelbrecht-
dc.contributor.authorunicampPetroli, Reginaldo José-
dc.contributor.authorunicampGuerra Júnior, Gil-
dc.contributor.authorunicampLemos-Marini, Sofia Helena Valente de-
dc.typeArtigopt_BR
dc.titleTwo novel mutations in the thyroid hormone receptor in patients with Resistance to Thyroid Hormone (RTH ): clinical, biochemical, and molecular datapt_BR
dc.contributor.authorEsquiaveto-Aun, A. M.-
dc.contributor.authorZantut-Wittmann, D. E.-
dc.contributor.authorPetroli, R. J.-
dc.contributor.authorNakano, B. S. L.-
dc.contributor.authorGuerra-Junior, G.-
dc.contributor.authorde Lemos-Marini, S. H. V.-
dc.contributor.authorde Mello, M. P.-
dc.subjectHormônios tireoidianospt_BR
dc.subject.otherlanguageThyroid hormonespt_BR
dc.description.abstractThe syndrome of resistance to thyroid hormone (RTH ) is an inherited disorder characterized by variable tissue hyposensitivity to 3,5,30-l-triiodothyronine (T-3), with persistent elevation of free-circulating T-3 (FT3) and free thyroxine (FT4) levels in association with nonsuppressed serum thyrotropin (TSH). Clinical presentation is variable and the molecular analysis of THRB gene provides a short cut diagnosis. Here, we describe 2 cases in which RTH was suspected on the basis of laboratory findings. The diagnosis was confirmed by direct THRB sequencing that revealed 2 novel mutations: the heterozygous p.Ala317Ser in subject 1 and the heterozygous p.Arg438Pro in subject 2. Both mutations were shown to be deleterious by SIFT, PolyPhen, and Align GV-GD predictive methodspt_BR
dc.relation.ispartofHormone and metabolic researchpt_BR
dc.relation.ispartofabbreviationHorm. metab. res.pt_BR
dc.publisher.cityStuttgartpt_BR
dc.publisher.countryAlemanhapt_BR
dc.publisherGeorg Thieme Verlagpt_BR
dc.date.issued2015-
dc.language.isoengpt_BR
dc.description.volume47pt_BR
dc.description.issuenumber12pt_BR
dc.description.firstpage889pt_BR
dc.description.lastpage894pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0018-5043pt_BR
dc.identifier.eissn1439-4286pt_BR
dc.identifier.doi10.1055/s-0035-1545305pt_BR
dc.identifier.urlhttps://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0035-1545305pt_BR
dc.date.available2021-02-10T20:34:03Z-
dc.date.accessioned2021-02-10T20:34:03Z-
dc.description.provenanceSubmitted by Cintia Oliveira de Moura (cintiaom@unicamp.br) on 2021-02-10T20:34:03Z No. of bitstreams: 0en
dc.description.provenanceMade available in DSpace on 2021-02-10T20:34:03Z (GMT). No. of bitstreams: 0 Previous issue date: 2015en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/355552-
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentDepartamento de Clínica Médicapt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentDepartamento de Pediatriapt_BR
dc.contributor.departmentDepartamento de Pediatriapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeInstituto de Biologiapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.identifier.source000364222700004pt_BR
dc.creator.orcid0000-0003-0061-8217pt_BR
dc.creator.orcid0000-0002-7434-5701pt_BR
dc.creator.orcid0000-0002-5300-5054pt_BR
dc.creator.orcid0000-0002-2991-7678pt_BR
dc.creator.orcid0000-0002-8289-5703pt_BR
dc.type.formArtigopt_BR
dc.identifier.articleidNov.pt_BR
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