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

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

25 Apr 2016

Abstract excerpt

A subset of patients with monogenic disorders lacks disease causing mutations in the protein coding region of the corresponding gene. Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open reading frame (uORF) in the 5' untranslated region (5'-UTR) of the androgen receptor (AR) gene. We show in patient derived...

Read the complete abstract on PubMed

Topics

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

Share to Hormonal and reproductive studies
Share to Prostate Cancer Treatment and Research
Share to Sexual Differentiation and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27110943
DOI: 10.1371/journal.pone.0154158

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF TranslationPMID 27110943Read ↗

A novel variant in the 5’ UTR of the androgen receptor gene without coding region alterations in three patients with complete androgen insensitivity syndromeSemantic proximity Read ↗

A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.Semantic proximity Read ↗

Genetic Findings in a Cohort of Patients with Androgen Insensitivity SyndromeSemantic proximity Read ↗

Novel and recurrent mutations in patients with androgen insensitivity syndromes.Semantic proximity Read ↗

A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome.Semantic proximity Read ↗

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene.Semantic proximity Read ↗

A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome.Semantic proximity Read ↗

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.Semantic proximity Read ↗

Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene.Semantic proximity Read ↗

Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity.Semantic proximity Read ↗

Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression.Semantic proximity Read ↗

A Novel AR Splice-Site Variant Causing Complete Androgen Insensitivity Syndrome: Transcript Confirmation and Lessons for Splice PredictionSemantic proximity Read ↗

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