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
1988
Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene
Usala S, Bale A, Gesundheit N, Weinberger C, Lash R, Wondisford F, McBride O, Weintraub B. Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene. Endocrinology 1988, 2: 1217-1220. PMID: 2905763, DOI: 10.1210/mend-2-12-1217.Peer-Reviewed Original ResearchConceptsThyroid hormone receptorGeneralized thyroid hormone resistanceBiological functionsC-erbA beta geneC-erbA genesHormone receptorsMutant phenotypeGene familyC-erbA betaC-erbA alphaRestriction enzyme analysisGene productsChromosome 3Multiple cDNAsThyroid hormone resistanceHuman syndromesTight linkageBeta locusGenesBeta geneNuclear receptorsLarge deletionsHormone resistanceEnzyme analysisCertain kindreds