|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WASP gene analysis can make a definite diagnosis of WAS and identify mutation carriers, beneficial for timely treatment and genetic counseling for children with WAS.
|
20546529 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Loss of WASP activity leads to Wiskott-Aldrich syndrome, an X-linked disease that is associated with defects in a broad range of cellular processes, resulting in complex immunodeficiency, autoimmunity and microthrombocytopenia.
|
20182458 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel WASP gene mutation in a Chinese boy with Wiskott-Aldrich syndrome.
|
20683686 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.
|
20574068 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
|
20173115 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[WASP gene mutation analysis of a family of X-linked thrombocytopenia].
|
20959042 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Premature termination and deletions abrogate Wiskott-Aldrich syndrome protein (WASp) expression and lead to severe disease (WAS).
|
21178275 |
2010 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in WASP result in a wide spectrum of clinical manifestations ranging from the relatively mild X-linked thrombocytopenia to the classic full-blown WAS phenotype characterized by thrombocytopenia, immunodeficiency, eczema, and high susceptibility to developing tumors and autoimmune manifestations.
|
19351959 |
2009 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
|
19817875 |
2009 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.
|
19654965 |
2009 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Wiskott-Aldrich syndrome (WAS) protein (WASp) is a regulator of actin cytoskeleton in hematopoietic cells.Mutations of the WASp gene cause WAS.
|
19307326 |
2009 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
LHGDN |
Active involvement of Robo1 and Robo4 in filopodia formation and endothelial cell motility mediated via WASP and other actin nucleation-promoting factors.
|
18948384 |
2009 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
WASP, the product of the gene mutated in Wiskott-Aldrich syndrome, is expressed only in hematopoietic cells and is the archetype of a family of proteins that include N-WASP and Scar/WAVE.
|
19018480 |
2009 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
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 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
LHGDN |
Hierarchical regulation of WASP/WAVE proteins.
|
18995840 |
2008 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.
|
17703096 |
2008 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
LHGDN |
Identification of a new WASP and FKBP-like (WAFL) protein in inflammatory bowel disease: a potential marker gene for ulcerative colitis.
|
18654788 |
2008 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
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 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated two novel mutations of the WASP gene in two Spanish families with patients clinically diagnosed as having XLT and WAS, respectively.
|
17390083 |
2007 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.
|
18162713 |
2007 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.
|
17250667 |
2007 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lack of intracellular WASP expression and WASP gene mutation confirmed the diagnosis of WAS.
|
18090932 |
2007 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).
|
17213309 |
2007 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene defective in WAS encodes Wiskott-Aldrich syndrome protein (WASP).
|
17890224 |
2007 |
|
Wiskott-Aldrich Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease caused by mutations in the Wiskott-Aldrich Protein (WASP) gene, which typically leads to absent WASP protein expression in WAS leukocytes.
|
17690954 |
2007 |