|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
|
9529364 |
1998 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene.CDH in DDS is rare.
|
18203154 |
2008 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of two Japanese cases of Denys-Drash syndrome.
|
8295405 |
1993 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome.
|
10738002 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing.
|
8112732 |
1994 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In ten independent cases of Denys-Drash syndrome, point mutations in the zinc finger domains of one WT1 gene copy were found.
|
1655284 |
1991 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.
|
8388765 |
1993 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report describes a novel WT1 gene mutation in a DDS patient.
|
20562648 |
2010 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.
|
1338906 |
1992 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with Denys-Drash syndrome (DDS) have been shown to be constitutionally heterozygous for mutations of the WT1 gene.
|
9168922 |
1997 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour.
|
7607640 |
1995 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constitutional WT1 correlate with clinical features in children with progressive nephropathy.
|
11182928 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.
|
1338906 |
1992 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome.
|
10505699 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The decision to do prophylactic nephrectomies was based on the genetic identification of WT1 mutations supporting a diagnosis of incomplete DDS, with the potential for increased risk of malignancy with the development of Wilms' tumour.
|
14671061 |
2004 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins.
|
11322369 |
2001 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.
|
10571943 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
|
27241786 |
2016 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe a family with the well-known missense mutation in exon 9 of the WT1 gene, 1180C>T (R394W), causing incomplete DDS and no symptoms in their father.
|
23715653 |
2013 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations.
|
10799199 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WT1 gene causing Wilms tumors were first reported in WAGR syndrome (Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, Wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or WAGR syndrome WT1 mutations were identified.
|
10022588 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing.
|
8112732 |
1994 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
However, in addition to the 12 patients, three DDS patients were also analysed using SSCP, and in all three cases heterozygous WT1 mutations were found which would be predicted to disrupt the DNA binding activity of WT1 protein.
|
8411073 |
1993 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletions of the WT1 gene or point mutations which destroy the DNA binding activity of the protein are associated with the development of the pediatric nephroblastoma Wilms tumor and Denys-Drash syndrome.
|
8393820 |
1993 |