Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.
|
9607727 |
1998 |
Reifenstein Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Transient transfections of an AR expression plasmid carrying the S432 F mutation using Chinese Hamster Ovary (CHO) cells revealed a significant partial reduction in transactivation of the co-transfected androgen responsive (ARE) (2)TATA luciferase reporter gene thus confirming PAIS.
|
16151980 |
2005 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the novel R840 mutation in the androgen receptor is the cause of partial androgen insensitivity syndrome in this Brazilian family.
|
10502786 |
1999 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
|
1424203 |
1992 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene.
|
26845730 |
2016 |
Reifenstein Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The molecular basis for partial androgen insensitivity associated with adult onset spinal/bulbar muscular atrophy was investigated by transient transfection of human androgen receptor (AR) expression vectors containing increasing CAG repeat lengths in the first exon.
|
8961263 |
1996 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus a more complete understanding of the functional consequences of androgen receptor mutations may provide a more rational basis for gender assignment in PAIS.
|
8824883 |
1996 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we performed microarray analysis for genital skin fibroblasts obtained from four boys with buried penis (the control individuals) and a patient with partial androgen insensitivity syndrome (PAIS) due to a hypomorphic mutation in AR (the PAIS patient).
|
30787207 |
2019 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the androgen receptor from the patients with Reifenstein syndrome, in which this alanine is converted to a threonine, wild-type receptor properties can be restored by exchanging an additional threonine at position 602 to an alanine.
|
8246999 |
1993 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PAIS patient P4 has a novel amino acid substitution (Arg760Ser) in the AR ligand binding domain, which may impair ligand binding.
|
17937062 |
2007 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor.
|
9543136 |
1998 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Using engineered or naturally occurring androgen receptor mutants that are responsible for complete or partial androgen insensitivity syndromes, we defined the subregions involved in the cross-talk of the androgen receptor with the AP-1 factors.
|
9886845 |
1999 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in <25% of patients with a diagnosis of PAIS.
|
29396419 |
2018 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.
|
18656523 |
2008 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene.
|
7910529 |
1994 |
Reifenstein Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The study of androgen-dependent proteins and other androgen-receptor "markers" should offer the clinician a better management of partial androgen insensitivity and allow, in amniotic or trophoblastic cells, a prenatal diagnosis of androgen resistance in high-risk families.
|
3521447 |
1986 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Schizophrenia and the androgen receptor gene: report of a sibship showing co-segregation with Reifenstein syndrome but no evidence for linkage in 23 multiply affected families.
|
8546149 |
1995 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The patient with AR-I603N displays a partial androgen insensitivity syndrome phenotype, which is explained by somatic mosaicism.
|
19851057 |
2009 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The patient presented neonatally with 46,XY DSD and was diagnosed as partial androgen insensitivity syndrome carrying a disease causing AR mutation (p.Q798E).
|
20410220 |
2010 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we report the clinical phenotype and molecular analysis of two siblings with severe partial androgen insensitivity due to a novel mutation in the ligand-binding domain of the AR gene.
|
8550758 |
1996 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
|
8446106 |
1993 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor.
|
10971094 |
2000 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We previously showed that the number of CAG repeats within the AR gene exon 1 in 23 families with complete or partial androgen insensitivity syndrome was 19 +/- 4.
|
1472458 |
1992 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
|
1598912 |
1992 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The results of these studies indicated that the patient had PAIS with impaired AR functions and increased aromatase activity.
|
8980896 |
1996 |