{"doi":"10.1210/jcem.79.4.7962294","title":"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome.","abstract":null,"journal":"The Journal of Clinical Endocrinology & Metabolism","year":1994,"id":680884,"datarank":0.6141516843333151,"base_score":4.0943445622221,"endowment":4.0943445622221,"self_citation_contribution":0.6141516843333151,"citation_network_contribution":0.0,"self_endowment_contribution":0.6141516843333151,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":59,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1778973,"name":"M Inoue","orcid":null,"position":1,"is_corresponding":false},{"id":1778974,"name":"S Tachibana","orcid":null,"position":2,"is_corresponding":false},{"id":1530807,"name":"Y Nakai","orcid":null,"position":3,"is_corresponding":false},{"id":1778975,"name":"H Takebe","orcid":null,"position":4,"is_corresponding":false},{"id":1778972,"name":"T Tsukada","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome.","abstract":"The molecular basis of androgen resistance was investigated in a patient with undervirilized male syndrome. Binding studies of the androgen receptors in the patient's genital skin fibroblasts revealed a normal binding capacity of 5 alpha-dihydrotestosterone, although the affinity to androgen was slightly lower than the normal control value. The androgen binding of the patient's receptor showed a moderate thermal instability when the assay temperature was raised from 30 to 41 C. Nucleotide sequencing analysis of the androgen receptor gene revealed a single nucleotide substitution in exon F, resulting in an amino acid alteration from leucine (CTC) to phenylalanine (TTC) at position 789 within the steroid-binding domain of androgen receptor. When expressed in COS-7 cells, the mutant androgen receptor harboring phenylalanine at position 789 showed thermolabile androgen-binding properties similar to those observed in the patient's genital skin fibroblasts. Cotransfection experiments with an androgen-inducible reporter gene demonstrated a decreased transactivational capability of the mutant receptor. These results indicate that this point mutation modified the receptor function and caused androgen resistance in this patient. This mutation caused the mildest form of all androgen insensitivity syndromes ever examined for mutations in the androgen receptor gene.","is_dataset_classified":null,"base_score":4.0943445622221,"endowment":4.0943445622221,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"7962294","pmcid":null,"openalex_id":"https://openalex.org/W1972602312","authors":[],"funders":[],"total_grants":0,"fwci":1.193,"citation_percentile":0.77180898,"influential_citations":0,"citation_trend":[{"year":2013,"count":4},{"year":2014,"count":1},{"year":2016,"count":1},{"year":2022,"count":2},{"year":2024,"count":1},{"year":2025,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://academic.oup.com/jcem/article-pdf/79/4/1202/10504574/jcem1202.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1210/jcem.79.4.7962294","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/7962294","host_type":"repository"},{"url":"http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100499666","host_type":"repository"}],"fields_of_study":["Sexual Differentiation and Disorders","Hormonal and reproductive studies","Genetic Neurodegenerative Diseases","Adult","Androgens","Base Sequence","Disorders of Sex Development","Drug Resistance","Fibroblasts","Genitalia, Male","Gynecomastia","Humans","Male","Molecular Probes","Molecular Sequence Data","Mutation","Point Mutation","Receptors, Androgen","Skin"],"mesh_terms":["Adult","Androgens","Base Sequence","Drug Resistance","Fibroblasts","Genitalia, Male","Gynecomastia","Humans","Male","Molecular Sequence Data","Mutation","Receptors, Androgen","Disorders of Sex Development","Skin","Molecular Probes","Point Mutation"],"keywords":["Androgen receptor","RNF4","Androgen insensitivity syndrome","Androgen","Endocrinology","Biology","Internal medicine","Mutant","Mutation","Receptor","Molecular biology","Genetics","Gene","Prostate cancer","Medicine","Hormone","Cancer"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-17T16:20:09.271955Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}