{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Xu Y"],"funding":["National Natural Science Foundation of China","Rare Disease Registration of Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine"],"pagination":["453"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11610102"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(1)"],"pubmed_abstract":["Background
Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in steroidogenesis and gonadal development. 46, XY disorder of sexual development (DSD) caused by NR5A1 mutations is a rare genetic condition. This study aimed to provide a comprehensive analysis of the clinical characteristics and molecular defects observed in 19 Chinese patients with NR5A1 variants, including assessing the deleterious effects of novel variants in vitro and evaluating their functional impact on the gonad and adrenal glands in vivo.Materials and methods
Subjects with NR5A1 variants were identified from 223 Chinese 46, XY DSD patients via next-generation sequencing. In-silico analysis and functional assays were performed to evaluate the transcriptional activity, expression l"],"journal":["Orphanet journal of rare diseases"],"pubmed_title":["Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations."],"pmcid":["PMC11610102"],"funding_grant_id":["JYHJB202306","81873652","82371873"],"pubmed_authors":["Wu J","Ling S","Rao Y","Zhu H","Song H","Liu X","Liu Y","Han B","Zhao S","Chen Y","Yao H","Qiao J","Cao R","Xu Y"],"additional_accession":[]},"is_claimable":false,"name":"Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.","description":"Background
Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in steroidogenesis and gonadal development. 46, XY disorder of sexual development (DSD) caused by NR5A1 mutations is a rare genetic condition. This study aimed to provide a comprehensive analysis of the clinical characteristics and molecular defects observed in 19 Chinese patients with NR5A1 variants, including assessing the deleterious effects of novel variants in vitro and evaluating their functional impact on the gonad and adrenal glands in vivo.Materials and methods
Subjects with NR5A1 variants were identified from 223 Chinese 46, XY DSD patients via next-generation sequencing. In-silico analysis and functional assays were performed to evaluate the transcriptional activity, expression l","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2025-04-04T02:20:14.455Z","creation":"2025-04-04T02:20:14.455Z"},"accession":"S-EPMC11610102","cross_references":{"pubmed":["39623453"],"doi":["10.1186/s13023-024-03472-8"]}}