| http://purl.uniprot.org/citations/2153155 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2153155 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2153155 | http://www.w3.org/2000/01/rdf-schema#comment | "Generalized thyroid hormone resistance (GTHR) is a disorder of thyroid hormone action that we have previously shown to be tightly linked to one of the two thyroid hormone receptor genes, c-erbA beta, in a single kindred, A. We now show that in two other kindreds, B and D, with differing phenotypes, there is also linkage between c-erbA beta and GTHR. The combined maximum logarithm of the odds score for all three kindreds at a recombination fraction of 0 was 5.77. In vivo studies had shown a triiodothyronine (T3)-binding affinity abnormality in nuclear receptors of kindred A, and we therefore investigated the defect in c-erbA beta in this kindred by sequencing a major portion of the T3-binding domain in the 3'-region of fibroblast c-erbA beta cDNA and leukocyte c-erbA beta genomic DNA. A base substitution, cytosine to adenine, was found at cDNA position 1643 which altered the proline codon at position 448 to a histidine. By allelic-specific hybridization, this base substitution was found in only one allele of seven affected members, and not found in 10 unaffected members of kindred A, as expected for a dominant disease. Also, this altered base was not found in kindreds B or D, or in 92 random c-erbA beta alleles. These results and the fact that the mutation is predicted to alter the secondary structure of the crucial T3-binding domain of the c-erbA beta receptor suggest this mutation is an excellent candidate for the genetic cause of GTHR in kindred A. Different mutations in the c-erbA beta gene are likely responsible for the variant phenotypes of thyroid hormone resistance in kindreds B and D."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci114438"xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci114438"xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Hauser P."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Hauser P."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Tennyson G.E."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Tennyson G.E."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Wondisford F.E."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Wondisford F.E."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Accili D."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Accili D."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Lash R.W."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Lash R.W."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Bale A.E."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Bale A.E."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Gesundheit N."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Gesundheit N."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Weintraub B.D."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Weintraub B.D."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Usala S.J."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/author | "Usala S.J."xsd:string |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |
| http://purl.uniprot.org/citations/2153155 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |