|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.
|
28623282 |
2017 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Defective thymic output in WAS patients is associated with abnormal actin organization.
|
28931895 |
2017 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
|
25792466 |
2015 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
|
25931402 |
2015 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
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 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].
|
25476427 |
2014 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature.
|
25332606 |
2014 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.
|
23033889 |
2013 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of Wiskott-Aldrich syndrome in patients from India.
|
22679904 |
2012 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.
|
22426750 |
2012 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.
|
22523910 |
2012 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
|
21185603 |
2011 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.
|
27264129 |
2011 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
|
20173115 |
2010 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
[WASP gene mutation analysis of a family of X-linked thrombocytopenia].
|
20959042 |
2010 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
|
19817875 |
2009 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).
|
17213309 |
2007 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
Biomarker
|
disease |
CTD_human |
Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia.
|
17724125 |
2007 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
|
17400488 |
2007 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
|
16804117 |
2006 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
|
15284122 |
2004 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Clinical course of patients with WASP gene mutations.
|
12969986 |
2004 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
|
11793485 |
2002 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
AlteredExpression
|
disease |
BEFREE |
In vitro, the mutant protein is constitutively activated through disruption of an autoinhibitory domain in the wild-type protein, indicating that loss of WASP autoinhibition is a key event in XLN.
|
11242115 |
2001 |
|
Neutropenia, Severe Congenital, X-Linked
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
In vitro, the mutant protein is constitutively activated through disruption of an autoinhibitory domain in the wild-type protein, indicating that loss of WASP autoinhibition is a key event in XLN.
|
11242115 |
2001 |