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 |
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 |
Biomarker
|
disease |
BEFREE |
Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices.
|
30316867 |
2018 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype.
|
29267169 |
2018 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele.
|
28456808 |
2017 |
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 |
GeneticVariation
|
disease |
BEFREE |
In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking.
|
27403927 |
2016 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene.
|
27583472 |
2016 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, AR gene mutations are found in less than a third of PAIS cases.
|
27087292 |
2016 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of partial androgen insensitivity syndrome (PAIS) should be reserved for infants with a pathogenic androgen receptor gene (AR) mutation.
|
24366239 |
2014 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen Insensitivity Syndrome or MAIS).
|
24186597 |
2013 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations.
|
22412043 |
2012 |
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 |
Mutations in the AR gene can be associated with isolated micropenis without other features of PAIS, such as hypospadias or gynecomastia.
|
20305676 |
2010 |
Reifenstein Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In XY newborns with normal/high plasma testosterone (T), partial androgen insensitivity syndrome (PAIS) is usually the first diagnosis evoked, which implies an androgen receptor (AR) defect.
|
20132346 |
2010 |
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 |
Mutational analysis of the androgen receptor gene in two Indian families with partial androgen insensitivity syndrome.
|
20333878 |
2009 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There is little information on the molecular basis of intrafamilial and inter-familial phenotypic heterogeneity with the same androgen receptor (AR) mutation in patients with partial androgen insensitivity syndrome.
|
19601939 |
2009 |
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 |
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 |
Screening for SF-1 mutation should be performed in subjects with apparent partial androgen insensitivity syndrome and no mutation in the AR gene.
|
17488792 |
2007 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Partial androgen insensitivity syndrome with thermolability in the androgen receptor.
|
16448442 |
2006 |
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 |
Various mutations in the androgen receptor (AR) are known to cause PAIS.
|
15963062 |
2005 |
Reifenstein Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
|
14756668 |
2004 |