|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
The present study focused on 11-nor-9carboxy-Δ9-THC (THC-COOH) and Benzoylecgonine (BE), the most common metabolites of cannabis and cocaine, respectively, present in the domestic sewage entering the wastewater treatment plants.
|
30690404 |
2019 |
|
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 |