A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.

doi:10.1016/j.mce.2008.06.016

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Article

A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.

Molecular and cellular endocrinology - 24 Sept 2008

Wong Hao Yun, Hoogerbrugge Jos W, Pang Kar Lok, van Leeuwen Marije, van Royen Martin E, Molier Michel, Berrevoets Cor A, Dooijes Dennis, Dubbink Hendrikus Jan, van de Wijngaart Dennis J, Wolffenbuttel Katja P, Trapman Jan, Kleijer Wim J, Drop Stenvert L S, Grootegoed J Anton, Brinkmann Albert O

Abstract excerpt

A novel mutation F826L located within the ligand binding domain (LBD) of the human androgen receptor (AR) was investigated. This mutation was found in a boy with severe penoscrotal hypospadias (classified as 46,XY DSD). The AR mutant F826L appeared to be indistinguishable from the wild-type AR, with respect to ligand binding affinity, transcriptional activation of MMTV-luciferase and ARE2-TATA-luciferase reporter...

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PMID: 18656523
DOI: 10.1016/j.mce.2008.06.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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