1991
Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis
Mitchell A, Bale A, Wang-ge M, Yi H, White R, Pirtle R, McBride O. Localization of a DNA segment encompassing four tRNA genes to human chromosome 14q11 and its use as an anchor locus for linkage analysis. Genomics 1991, 11: 1063-1070. PMID: 1686015, DOI: 10.1016/0888-7543(91)90033-b.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceChromosome MappingChromosomes, Human, Pair 14FemaleGenetic LinkageGenetic MarkersHumansMaleMolecular Sequence DataMultigene FamilyNucleic Acid HybridizationPolymorphism, Restriction Fragment LengthRestriction MappingRNA, TransferRNA, Transfer, LeuRNA, Transfer, ProRNA, Transfer, ThrConceptsT cell receptor alphaTRNA genesAnchor lociChromosomal locationHuman/rodent somatic cell hybridsRodent somatic cell hybridsLinkage analysisChromosome 14Human tRNA genesSomatic cell hybridsGenetic linkage analysisTRNA clusterMYH7 locusGene clusterGenomic fragmentCell hybridsCEPH pedigreesChromosome 14q11Southern analysisDNA segmentsGene locusAnonymous probesLociInformative membersSitu hybridization
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