| http://purl.uniprot.org/citations/1314846 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1314846 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1314846 | http://www.w3.org/2000/01/rdf-schema#comment | "Generalized resistance to thyroid hormones results from diverse mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor, and different kindreds have variable phenotypes. However, the T3-binding affinities of these mutant receptors studied in vitro have all been severely reduced compared to wild type. We report here a new kindred, CL, with a mutation further upstream than previously reported, a guanine to adenine base substitution at nucleotide 1244 in codon 315 changing an arginine to histidine. This base substitution was the only one found in codons 90-456 of genomic sequence and was formally shown to be a mutation by screening 51 random individuals. The kindred CL receptor complementary DNA was recreated, and the mutant receptor synthesized with rabbit reticulocyte lysate had a T3-binding affinity of 2.4 +/-0.9 x 10(10) M-1 compared to the wild-type human placental receptor affinity of 5.2 +/-1.6 x 10(10) M-1. Affected members of this kindred appeared clinically to have a relatively mild degree of resistance with mean total thyroxine of only 192 +/-24 nmol/L and inappropriately normal TSH levels. Kindred CL is an example of mild generalized resistance to thyroid hormones correlated with a mutation in the beta-receptor that resulted in only a modest deficiency in T3-binding activity."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem.74.5.1314846"xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem.74.5.1314846"xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Berard J."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Berard J."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Menke J.B."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Menke J.B."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Bradley W.E.C."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Bradley W.E.C."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Chertow B.S."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Chertow B.S."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Cugini C.D. Jr."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Cugini C.D. Jr."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Hao E.-H."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Hao E.-H."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Leidy J.W. Jr."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Leidy J.W. Jr."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Usala S.J."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/author | "Usala S.J."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/name | "J. Clin. Endocrinol. Metab."xsd:string |
| http://purl.uniprot.org/citations/1314846 | http://purl.uniprot.org/core/name | "J. Clin. Endocrinol. Metab."xsd:string |