| http://purl.uniprot.org/citations/1999491 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1999491 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1999491 | http://www.w3.org/2000/01/rdf-schema#comment | "Androgen resistance is associated with a wide range of quantitative and qualitative defects in the androgen receptor. However, fibroblast cultures from approximately 10% of patients with the clinical, endocrine, and genetic features characteristic of androgen resistance express normal quantities of apparently normal androgen receptor in cultured genital skin fibroblasts (receptor-positive androgen resistance). We have analyzed the androgen receptor gene of one patient (P321) with receptor-positive, complete testicular feminization and detected a single nucleotide substitution at nucleotide 2006 (G----C) within the second "zinc finger" of the DNA-binding domain that results in the conversion of the arginine residue at position 615 into a proline residue. Introduction of this mutation into the androgen receptor cDNA and transfection of the expression plasmid into eukaryotic cells lead to the synthesis of a receptor protein that displays normal binding kinetics but is inactive in functional assays of receptor activity. We conclude that substitution mutations in the DNA-binding domain of the androgen receptor are one cause of "receptor-positive" androgen resistance."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci115076"xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci115076"xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Griffin J.E."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Griffin J.E."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Grino P.B."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Grino P.B."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Marcelli M."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Marcelli M."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "McPhaul M.J."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "McPhaul M.J."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Wilson J.D."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Wilson J.D."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Zoppi S."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/author | "Zoppi S."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/pages | "1123-1126"xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/pages | "1123-1126"xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/title | "A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance."xsd:string |
| http://purl.uniprot.org/citations/1999491 | http://purl.uniprot.org/core/title | "A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance."xsd:string |