Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

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

(2016) Nadine C. Hornig et al.   PLoS One

Temporal and spatial characterization of nonsense-mediated mRNA decay

(2013) T. Trcek et al.   GENES & DEVELOPMENT

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

The androgen receptor gene mutations database: 2012 update

(2012) Bruce Gottlieb et al.   HUMAN MUTATION

Androgen insensitivity syndrome

(2012) Ieuan A Hughes et al.   LANCET

Exon and intron definition in pre-mRNA splicing

(2012) Laura De Conti et al.   Wiley Interdisciplinary Reviews-RNA

Molecular biology of androgen insensitivity

(2011) Jarmo Jääskeläinen   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies

(2010) Ashish Dhir et al.   FEBS Journal

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

(2010) L. Audi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome

(2008) Timo Hurme et al.   SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY