|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
MGD |
X-linked gene for testicular feminization in the mouse.
|
5452809 |
1970 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
BEFREE |
Testicular feminization associated with a thermolabile androgen receptor in culutred human fibroblasts.
|
500829 |
1979 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.
|
6602545 |
1983 |
|
Testicular Feminization
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Androgen receptor activity was also undetectable in non-genital skin fibroblasts (NGSF) from the second mother and two further CAI patients.
|
6748013 |
1984 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings provide evidence for X-linkage of this disorder, and suggest that the mutations that give rise to this phenotype are probably allelic to the mutations of the androgen receptor that cause testicular feminization.
|
3106178 |
1987 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The radiolabeled probes were used to screen for androgen receptor mutations on Southern blots prepared by restriction endonuclease digestion of genomic DNA from human subjects with complete androgen insensitivity syndrome (AIS).
|
3186717 |
1988 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity.
|
2333898 |
1990 |
|
Testicular Feminization
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Finally, the GSF of two exceptional patients with complete androgen insensitivity syndrome due to negligible androgen receptor-binding activity express this protein normally, as determined on two-dimensional gels by Western blot analysis with the antiserum and by photolytic covalent labeling with androgen analogues.
|
2311825 |
1990 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have used the polymerase chain reaction to amplify individual exons within the human AR gene of subjects with CAIS and have identified point mutations in three subjects.
|
2082179 |
1990 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.
|
1999491 |
1991 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
BEFREE |
The androgen receptor gene has been isolated, cloned, and studied extensively in patients with complete androgen insensitivity syndrome, but no comparative data are available on infertile males.
|
1750490 |
1991 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The 56/58 kDa protein is made by the GSF of a mentally retarded subject who has CAI because of a complete deletion of the coding portion of the AR gene.
|
2050265 |
1991 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
BEFREE |
These functional characteristics do not appear sufficient to account for the phenotype of complete testicular feminization and do not explain the profound deficiency of androgen receptor in cultured skin fibroblasts.
|
1856263 |
1991 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).
|
1487249 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.
|
1569163 |
1992 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
BEFREE |
We have defined the molecular defect in the androgen receptor in four unrelated subjects in this category (termed receptor positive) with the phenotype of compete or incomplete testicular feminization.
|
1316540 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although rare, complete deletion of the AR gene is of particular importance in terms of correlation between molecular defect and phenotype, as it represents the quintessential form of complete androgen insensitivity, the null phenotype.
|
1347772 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In a pair of siblings with complete androgen insensitivity who had supranormal levels of androgen binding in genital skin fibroblasts, polymerase chain reaction and Southern blot analysis of the androgen receptor gene confirmed by polymerase chain reaction and sequence analysis of AR cDNA, revealed an in-frame deletion of exon C encoding the second zinc finger of the receptor.
|
1508223 |
1992 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
CTD_human |
A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.
|
1303262 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The subsequent alanine to threonine amino acid conversion may have resulted in a configurational change of the androgen receptor protein leading to complete androgen insensitivity.
|
1426313 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.
|
1480178 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
|
1609793 |
1992 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.
|
8281140 |
1993 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Defects in the androgen receptor cause a spectrum of abnormalities in genetic males ranging from phenotypic women with testicular feminization to men with minor defects in fertility and/or virilization.
|
8253718 |
1993 |