Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The study identifies WASp as a novel effector of the nucleus-to-Golgi cell-survival pathway triggered by IR-induced DNA damage in cells of the hematolymphoid lineage and proposes an impaired GDR as a new cause for development of a "radiosensitive" form of immune dysregulation in patients with WAS.
|
31604087 |
2020 |
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
After transfection with Nudel shRNA, we detected the expression levels of E-cadherin, α-smooth muscle actin (α-SMA), and the Wiskott-Aldrich syndrome family of proteins (including WASP, N-WASP, WAVE1, WAVE2, and WAVE3) via assay.
|
30539652 |
2019 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is a form of primary immunodeficiency (PIDs) resulting from mutations of the gene that encodes Wiskott-Aldrich syndrome protein (WASp).
|
31047647 |
2019 |
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
To dissect the basis of the WAS platelet defect, we used a novel conditional mouse model (CoWas) lacking Wiskott-Aldrich syndrome protein (WASp) only in the megakaryocytic lineage in the presence of a normal immunologic environment, and in parallel we analyzed samples obtained from patients with WAS.
|
29421274 |
2018 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is caused by loss-of-function mutations in WASp and most frequently associated with lymphoreticular tumors of poor prognosis.
|
30393584 |
2018 |
Wiskott-Aldrich Syndrome
|
1.000 |
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 |
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In human T<sub>H</sub>1- or T<sub>H</sub>2-skewing cell culture systems, cotranscriptional R-loops (RNA/DNA duplex and displaced single-stranded DNA) and DNA double-strand breaks (DSBs) were monitored in multiple samples from patients with XLT and WAS and in normal T cells depleted of WASp.
|
29248492 |
2018 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The WAS gene product is expressed exclusively in the cytoplasm of hematopoietic cells and constitutional genetic abrogation of WASP leads to Wiskott-Aldrich syndrome (WAS).
|
29316027 |
2018 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency caused by mutations in Wiskott-Aldrich syndrome protein (WASp), a key regulator of cytoskeletal dynamics in hematopoietic cells.
|
29447842 |
2018 |
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.
|
28623282 |
2017 |
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Defective thymic output in WAS patients is associated with abnormal actin organization.
|
28931895 |
2017 |
Wiskott-Aldrich Syndrome
|
1.000 |
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 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WAS protein (WASP) gene are responsible for WAS.
|
28901403 |
2017 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the WAS protein (WASP) gene and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders.
|
26993433 |
2017 |
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Consistent findings in both WAS patients and WAS KO mice suggested an essential role for WASp in the development and memory response of Tfh cells and that WASp deficiency causes a deficient differentiation defect in Tfh cells by downregulating the transcription level of BCL6.
|
27170596 |
2016 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disorder caused by mutations in the WAS protein (WASP) gene.
|
25864580 |
2015 |
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
|
25931402 |
2015 |
Wiskott-Aldrich Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings suggest that WASp plays a crucial role in B10 cell development and that WASp-deficient B10 cells may contribute to autoimmunity in WAS.
|
25728049 |
2015 |
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
|
25792466 |
2015 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by microthrombocytopenia, eczema and immune deficiency, caused primarily by mutations in the WASP (Wiskott-Aldrich syndrome protein) gene.
|
25633059 |
2015 |
Wiskott-Aldrich Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
|
25931402 |
2015 |
Wiskott-Aldrich Syndrome
|
1.000 |
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 |
Wiskott-Aldrich Syndrome
|
1.000 |
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 |
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.
|
24210885 |
2014 |
Wiskott-Aldrich Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature.
|
25332606 |
2014 |