ArticleCurrent issues in molecular biology2025
A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.
Article in Current issues in molecular biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility.World journal of diabetes · 2025Review
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Authors and funding
7 authors.
Funding
Abstract
backgroundIn this study, we aimed to analyze androgen receptor (
methodsPeripheral blood samples were collected from the proband and four relatives (mother, sister, and two aunts). Cytogenetic imaging and chromosomal analysis were per-formed to elucidate the genetic basis of the condition. Clinical Exome Sequencing (CES) was conducted to identify candidate variants, which were subsequently validated using Sanger sequencing. Evolutionary conservation analysis was performed for the identified
resultsOur analyses revealed that the proband, sister, Aunt I, and Aunt II exhibited a 46,XY karyotype and carried the
conclusionin conclusion, we identified a novel missense mutation (c.2246C>T) in the
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