THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
|
8528199 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
|
8528199 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
|
7579347 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
|
8528199 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
|
8595430 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
|
8528198 |
1995 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.
|
8757563 |
1996 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Wiskott-Aldrich syndrome protein (WASP) gene was found to be mutated in patients presenting with WAS and in patients showing X-linked thrombocytopenia.
|
8682510 |
1996 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
|
8682510 |
1996 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.
|
8743175 |
1996 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.
|
8931701 |
1996 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), caused by mutations of the WAS protein (WASP) gene, represent different phenotypes of the same disease.
|
9326235 |
1997 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
|
9326235 |
1997 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The recently-identified Wiskott-Aldrich syndrome protein gene (WASP) is responsible for the Wiskott-Aldrich X-linked immunodeficiency as well as for isolated X-linked thrombocytopenia (XLT).
|
9616151 |
1998 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As a whole, the degree of impairment of WASP protein expression in WAS/XLT seems to correlate with anomalies of cytoskeletal organization, strongly supporting a role for WASP in the regulation of F-actin polymerization.
|
9713366 |
1998 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study we investigated the role of WASP in the differentiation of CD34-positive (CD34+) cells isolated from the bone marrow of patients with WAS (n = 5) or with XLT (n = 4).
|
10583210 |
1999 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
10575547 |
1999 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
|
10202051 |
1999 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All XLT patients (n = 3) and one WAS patient had a missense mutation at the PH domain of WASP.
|
10729999 |
2000 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
|
11167787 |
2001 |
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
11442475 |
2001 |