A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. [PDF]
PLoS ONE, 2016 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 ...
Nadine C Hornig +13 more
doaj +1 more source
Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report
Journal of Medical Case Reports, 2011 Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the ...
Silva Daniela M +2 more
doaj +1 more source
Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang [PDF]
, 2006 Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked ...
Tonang, Alvin
core
Why Are Autism Spectrum Conditions More Prevalent in Males? [PDF]
, 2011 Autism Spectrum Conditions (ASC) are much more common in males, a bias that may offer clues to the etiology of this condition. Although the cause of this bias remains a mystery, we argue that it occurs because ASC is an extreme manifestation of the male ...
Ashwin, Emma +5 more
core +4 more sources
Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation [PDF]
, 2013 Sex differences are well known to be determinants of development, health and disease. Epigenetic mechanisms are also known to differ between men and women through X-inactivation in females.
A Bird +69 more
core +10 more sources
Allosteric Conversation in the Androgen Receptor Ligand-Binding Domain Surfaces [PDF]
, 2012 Androgen receptor (AR) is a major therapeutic target that plays pivotal roles in prostate cancer (PCa) and androgen insensitivity syndromes. Wepreviously proposed that compounds recruited to ligand-binding domain (LBD) surfaces could regulate AR activity
Baxter, John D +9 more
core +2 more sources
Androgen and estrogen receptor expression in the developing human penis and clitoris. [PDF]
, 2020 To better understand how the human fetal penis and clitoris grows and remodels, we undertook an investigation to define active areas of cellular proliferation and programmed cell death spatially and temporally during development of human fetal external ...
Baskin, Laurence +6 more
core
Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome [PDF]
, 2013 Androgen receptor (AR) mutations in androgen insensitivity syndrome (AIS) are associated with a variety of clinical phenotypes. The aim of the present study was to compare the molecular properties and potential pathogenic nature of 8 novel and 3 ...
Akker, E.L.T. (Erica) van den +17 more
core +2 more sources
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome [PDF]
, 2016 Background: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.
Chong, C.E. +5 more
core +2 more sources
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
Human Genome Variation, 2021 An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 ...
Kok-Siong Poon +2 more
doaj +1 more source