Results 91 to 100 of about 8,273 (242)
Mutational analysis of androgen receptor gene in two families with androgen insensitivity
Indian Journal of Endocrinology and Metabolism, 2017 Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.
Radha Ramadevi Akella
doaj +1 more source
Hypospadias as a novel feature in spinal bulbar muscle atrophy [PDF]
, 2016 Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene.
Almqvist, C. +5 more
core +1 more source
Clinical and Public Health Guidelines, Volume 2, Issue 4, October 2025.ABSTRACT Objective To systematically review the values and preferences of people with lived experience of motor neurone disease (MND), including those living with MND, caregivers and genetic carriers, regarding their health‐related outcomes. Introduction MND is a devastating neurodegenerative disease that significantly impacts those living with the ...
Timothy Hugh Barker +12 more
wiley +1 more source
Two cases of androgen insensitivity due to somatic mosaicism
AIMS Genetics, 2015 Androgen insensitivity syndrome (AIS) is caused by mutations in the gene encoding the androgen receptor (AR). The incidence of AIS is estimated to be 1 in 99,000.
Natalie J. Nokoff +2 more
doaj +1 more source
Endocrine Connections, 2017 Objective: To review the treatment choices of women with complete androgen insensitivity syndrome (CAIS) at a single tertiary centre. Design: Retrospective review. Patients: Women with CAIS identified from our database.
Jennifer K Y Ko +4 more
doaj +1 more source
Renal Subcapsular xenografing of human fetal external genital tissue - A new model for investigating urethral development. [PDF]
, 2017 In this paper, we introduce our novel renal subcapsular xenograft model for the study of human penile urethral and clitoral development. We grafted fifteen intact fetal penes and clitorides 8-11 weeks fetal age under the renal capsules of gonadectomized ...
Baskin, Laurence +6 more
core +2 more sources
Journal of Genetic Counseling, Volume 34, Issue 5, October 2025.Abstract Cell‐free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue ...
Cali FitzGerald +4 more
wiley +1 more source
Complete Androgen Insensitivity Syndrome and Literature Review
Journal of Human Growth and Development, 2019 Backgroung: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as “testicular feminization”. It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor.
Mauricio Giusti Calderon +4 more
openaire +2 more sources
G Protein‐Coupled Receptor Signaling: Implications and Therapeutic Development Advances in Cancers
MedComm, Volume 6, Issue 10, October 2025.G protein‐coupled receptors (GPCRs) are the dynamic protein family in the human genome. GPCR dysregulation aids in the advancement of cancer through increased migration, survival, and proliferation. Novel treatments that target GPCR signaling include orthosteric ligands, biased receptor mutants, PROTACs, and antibody–drug conjugates.
Inamu Rashid Khan +6 more
wiley +1 more source
Androgenetic alopecia: a review [PDF]
, 2017 Purpose Androgenetic alopecia, commonly known as male pattern baldness, is the most common type of progressive hair loss disorder in men. The aim of this paper is to review recent advances in understanding the pathophysiology and molecular mechanism
Caro, Gemma +7 more
core +1 more source