|
Androgen-Insensitivity Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.
|
12843171 |
2003 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome.
|
8103398 |
1993 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene.
|
9328206 |
1997 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.
|
1430233 |
1992 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene.
|
7641413 |
1995 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome.
|
1426313 |
1992 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic defects of the human androgen receptor (AR) can cause a wide spectrum of androgen insensitivity syndromes (AIS) in XY individuals ranging from phenotypic females, to defective spermatogenesis in otherwise normal males.
|
9788719 |
1998 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Studies in a number of different laboratories have identified mutations of the AR gene in subjects with androgen resistance syndromes.
|
12573815 |
2002 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group.
|
9007482 |
1997 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
|
10690872 |
2000 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis.
|
10965214 |
2000 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.
|
9610419 |
1998 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
X-linked gene for testicular feminization in the mouse.
|
5452809 |
1970 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 15 cases of AIS and demonstrate the structural and functional relationships of the androgen receptor.
|
8864743 |
1996 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
To our knowledge, there has been no previous report of a de novo mutation described within the androgen receptor gene in patients with androgen insensitivity syndrome.
|
8096390 |
1993 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
9856504 |
1998 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To determine the presence of NR5A1 mutations in an Australasian cohort of 17 46,XY DSD patients with presumed androgen insensitivity syndrome (AIS) who were negative for androgen receptor gene (AR) mutation.
|
22909003 |
2013 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In seven families with complete AIS, single base mutations were found in the region of the AR gene encoding the steroid-binding domain of the receptor.
|
1480178 |
1992 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Androgen insensitivity syndromes are due to defects in the androgen receptor gene.
|
9544375 |
1998 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder with a normal 46, XY karyotype caused by abnormality of the androgen receptor (AR) gene.
|
22487869 |
2012 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
Biomarker
|
disease |
LHGDN |
A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome.
|
16759930 |
2006 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
|
2594783 |
1989 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
C601S mutation in the androgen receptor results in partial loss of androgen function.
|
20493947 |
2010 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study presented a wide range of spectrum of AIS (from partial AIS to complete AIS) caused by AR mutations in South China population.
|
28261839 |
2017 |
|
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PCR-single-strand conformation polymorphism analysis proved to be a fast and reliable technique to screen for androgen receptor gene mutations and to study the androgen receptor gene of family members of AIS-affected individuals.
|
7970939 |
1994 |