|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis using standard methods for DNA sequencing confirmed FS due to a WT1 gene mutation, IVS9+4C>T.
|
22908070 |
2013 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Wilms tumor 1 (WT1) gene is currently in focus by pediatric nephrologists as its mutations are associated with nephrotic syndrome, especially as part of complex clinical entities like Denys-Drash or Frasier syndrome.
|
23618379 |
2013 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A splice mutation in intron 9 of the WT1 gene was recently described in patients with FS.
|
11954756 |
2002 |
|
Frasier Syndrome
|
0.800 |
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 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WT1 gene can lead to Denys-Drash syndrome or Frasier syndrome and can also cause isolated nephrotic syndrome (NS).
|
22763603 |
2013 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome (FS).
|
10571943 |
1999 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.
|
10094551 |
1999 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells.
|
18271004 |
2008 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS).
|
12050205 |
2002 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964.
|
15973330 |
2005 |
|
Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Therefore, molecular screening of WT1 gene is very important to confirm the FS diagnosis.
|
23295293 |
2012 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1).
|
22815844 |
2012 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
|
12199335 |
2003 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene.
|
17935232 |
2007 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Denys-Drash syndrome and Frasier syndrome are related diseases caused by mutations in the WT1 gene.
|
10763762 |
2000 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
|
21851196 |
2011 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frasier syndrome: four new cases with unusual presentations.
|
23295293 |
2012 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
|
10571943 |
1999 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
|
9499425 |
1998 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
|
28204945 |
2017 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
|
15150775 |
2004 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
|
24856380 |
2014 |
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |