|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.
|
23033889 |
2013 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.
|
23160469 |
2013 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical course of patients with WASP gene mutations.
|
12969986 |
2004 |
|
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 |
UNIPROT |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
|
11167787 |
2001 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Stability for THC, 11-nor-9-carboxy-THC (THCCOOH), ∆<sup>9</sup> -tetrahydrocannabivarin (THCV), cannabidiol (CBD), and cannabigerol (CBG) were determined after storage at 4 °C for 1, 2, and 3 months.
|
27539096 |
2017 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The lower ratio of XLT to classic WAS patients underestimates the burden of Taiwanese patients with WASP mutations, especially the XLT phenotype.
|
20232122 |
2010 |
|
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 |
Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT.
|
15203732 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of Wiskott-Aldrich syndrome in patients from India.
|
22679904 |
2012 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP).
|
12591280 |
2003 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.
|
27264129 |
2011 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most mutations involved exon 1 of the WASP gene and none had the X-linked thrombocytopenia phenotype.
|
17703096 |
2008 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Our findings about the nature of WIP·WASp complex formation are relevant for ongoing efforts to understand hematopoietic cell behavior, paving the way for new therapeutic approaches to WAS and XLT.
|
29215267 |
2018 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome protein gene mutations result in four clinical phenotypes: classic Wiskott-Aldrich syndrome and X-linked thrombocytopenia, intermittent thrombocytopenia and neutropenia.
|
18043243 |
2008 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The time-related increase in home-cage activity upon abrupt discontinuation of chronic Δ9-THC treatment, as well as the effects of rimonabant to increase activity in monkeys receiving chronic, but not intermittent, Δ9-THC treatment, are consistent with signs of physical dependence on Δ9-THC in primates.
|
30861005 |
2019 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
|
11793485 |
2002 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
|
21185603 |
2011 |