|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
|
25792466 |
2015 |
|
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 |
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 |
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.
|
26261240 |
2015 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Wiskott-Aldrich syndrome protein (WASP) gene result either in the classic Wiskott-Aldrich syndrome (WAS) or in a less severe form, X-linked thrombocytopenia (XLT).
|
12969986 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed two WASP missense mutants (L46P and A47D) causing XLT for their effects on T cell chemotaxis.
|
25200405 |
2014 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.
|
16562789 |
2006 |
|
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.
|
28623282 |
2017 |
|
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 |
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 |
Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature.
|
25332606 |
2014 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of NK cell numbers and cytotoxic activity in patients carrying different mutations in the WASP coding gene indicated that although the percentage of NK cells was normal or increased, natural cytotoxicity and antibody-mediated NK cell cytotoxicity were inhibited in all patients with the classical WAS phenotype and in most patients carrying mutations associated with the X-linked thrombocytopenia (XLT) phenotype.
|
15001467 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
|
15284122 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In total, three patients revealed low expression of WASP associated with a <i>WAS</i> gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia.
|
29358862 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
11442475 |
2001 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2.
|
26175287 |
2015 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), characterized by chronic microthrombocytopenia with and without immunodeficiency, are caused by mutations of the WAS protein (WASP) gene.
|
14612666 |
2003 |
|
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 |
BEFREE |
Using ultraviolet-visible (UV-vis) spectroscopy, fingerprints from volunteers who had used marijuana were analyzed via a competitive immunoassay for the detection of Δ<sup>9</sup>-tetrahydrocannabinol (Δ<sup>9</sup>-THC), the main psychoactive component of marijuana, and 11-nor-9-carboxy-THC (THC-COOH), one of the main metabolites produced in the body following the use/consumption of THC-related products.
|
31793770 |
2019 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia.
|
15469902 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
|
16804117 |
2006 |