1991
A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance
Usala S, Menke J, Watson T, Bérard W, Bradley C, Bale A, Lash R, Weintraub B. A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance. The Journal Of Clinical Endocrinology & Metabolism 1991, 72: 32-38. PMID: 1846005, DOI: 10.1210/jcem-72-1-32.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceBinding SitesCytosineDeoxyribonucleases, Type II Site-SpecificDrug ResistanceEndocrine System DiseasesFemaleHumansLod ScoreMaleMolecular Sequence DataMutationPedigreePituitary GlandProto-Oncogene ProteinsReceptors, Thyroid HormoneSyndromeThyroid HormonesThyrotropin-Releasing HormoneTriiodothyronineConceptsBeta thyroid hormone receptorC-erbA betaThyroid hormone receptorC-erbA beta thyroid hormone receptorNew point mutationPoint mutationsT3-binding domain
1990
A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
Usala S, Tennyson G, Bale A, Lash R, Gesundheit N, Wondisford F, Accili D, Hauser P, Weintraub B. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. Journal Of Clinical Investigation 1990, 85: 93-100. PMID: 2153155, PMCID: PMC296391, DOI: 10.1172/jci114438.Peer-Reviewed Original ResearchConceptsGeneralized thyroid hormone resistanceC-erbA betaThyroid hormone resistanceHormone resistanceBase substitutionsT3-binding domainC-erbA beta geneThyroid hormone receptor genesBeta thyroid hormone receptorThyroid hormone receptorC-erbA beta thyroid hormone receptorHormone receptor geneProline codonsGenomic DNAThyroid hormone actionAltered baseBeta cDNASecondary structureBeta geneNuclear receptorsBase mutationMaximum logarithmPosition 448Receptor geneBeta receptors