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
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