DHT-receptor in cultured human fibroblasts: binding study in a family with androgen insensitivity (complete testicular feminisation).

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

CONTEXT Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals wi...

Complete Androgen Insensitivity Syndrome in Three Sisters

Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is charac...

P-84: Characterization of Androgen Receptor Structure and Nucleocytoplasmic Shuttling of the Rice Field Eel

Background: Androgen receptor (AR) plays a critical role in prostate cancer and male sexual differentiation.Mechanisms by which AR acts and regulations of AR nucleocytoplasmic shuttling are not understood well. Materials and Methods: Degenerate PCR and RACE Cloning of AR Gene; Phylogenetic Analysis and Molecular Modeling;Real-time Fluorescent Quantitative RT-PCR; Northern Blot Hybridization;In ...

A case of complete androgen insensitivity syndrome: genetic analysis of the family.

Besides many other factors, androgens play a role in expression of male phenotype. Androgen activity is mediated by androgen receptor (AR). After binding to androgen, AR translocates to nucleus and adheres to the regulatory regions of specific chromosomal DNA sequences (androgen response elements/ARE), to activate androgen dependent genes. The AR is encoded by the AR gene (Xq11–12). The gene is...