1991
Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds
Fein H, Burman K, Djuh Y, Usala S, Bale A, Weintraub B, Smallridge R. Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. Journal Of Endocrinological Investigation 1991, 14: 219-223. PMID: 1677017, DOI: 10.1007/bf03346792.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceChromosome MappingDeoxyribonuclease BamHIDeoxyribonucleases, Type II Site-SpecificDrug ResistanceErbB ReceptorsGenetic LinkageHumansMolecular Sequence DataMutationPedigreePolymorphism, Restriction Fragment LengthProto-Oncogene ProteinsReceptors, Thyroid HormoneSyndromeThyroid DiseasesThyroid HormonesThyrotropinThyroxineTriiodothyronineA 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 HormoneTriiodothyronine
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