Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

Human molecular genetics - 1 Feb 1996

Bevan C L, Brown B B, Davies H R, Evans B A, Hughes I A, Patterson M N

Abstract excerpt

Partial androgen insensitivity syndrome (PAIS) is caused by defects in the androgen receptor gene and presents with a wide range of undervirilization phenotypes. We studied the consequences of six androgen receptor ligand-binding domain mutations on receptor function in transfected cells. The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Cell Line

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Disorders of Sex Development

Share to HeLa Cells

Share to Molecular Sequence Data

Share to Mutation

Share to Sequence Homology, Amino Acid

Share to Transcriptional Activation

Source

Identifiers

PMID: 8824883
DOI: 10.1093/hmg/5.2.265

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.PMID 8824883Read ↗

Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.Semantic proximity Read ↗

Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor.Semantic proximity Read ↗

Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.Semantic proximity Read ↗

Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding.Semantic proximity Read ↗

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.Semantic proximity Read ↗

Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor.Semantic proximity Read ↗

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.Semantic proximity Read ↗

Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype.Semantic proximity Read ↗

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.Semantic proximity Read ↗

Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.Semantic proximity Read ↗

Androgen receptor abnormalities.Semantic proximity Read ↗

Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.