Condition: Wiskott-Aldrich Syndrome


rs1064793293 in WAS gene and Wiskott-Aldrich Syndrome PMID 20173115 2010 X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

PMID 11298372 2001 Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

PMID 10447259 1999 Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

PMID 16091449 2005 Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.

PMID 21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

PMID 19817875 2009 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

PMID 12969986 2004 Clinical course of patients with WASP gene mutations.

PMID 10202051 1999 Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

PMID 17390083 2007 Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

PMID 16638962 2006 Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins.

PMID 23033889 2013 Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

PMID 12437929 2002 Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome.

PMID 8528198 1995 Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

PMID 17213309 2007 WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

PMID 21185603 2011 Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

PMID 8069912 1994 Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

PMID 20959042 2010 [WASP gene mutation analysis of a family of X-linked thrombocytopenia].

PMID 9326235 1997 Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

PMID 18162713 2007 A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.

PMID 14612666 2003 WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.

PMID 22523910 2012 Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.

PMID 8682510 1996 Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

PMID 15284122 2004 Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

PMID 9445409 1998 X-linked Wiskott-Aldrich syndrome in a girl.

PMID 9683546 1998 Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.

PMID 9098856 1997 Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.

PMID 7753869 1995 Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

PMID 8528199 1995 WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

PMID 11793485 2002 Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

PMID 9126958 1997 Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.

PMID 20574068 2010 Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.

PMID 9713366 1998 Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.

PMID 28623282 2017 A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases.

PMID 11442475 2001 Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

PMID 25792466 2015 B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.

PMID 25476427 2014 [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].

PMID 25931402 2015 Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.

PMID 7579347 1995 The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

PMID 22679904 2012 Molecular basis of Wiskott-Aldrich syndrome in patients from India.

PMID 25332606 2014 Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature.

PMID 22426750 2012 Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

PMID 24210885 2014 Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

PMID 14504083 2004 Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T- and B-cell lineages.

PMID 12727931 2003 Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.

PMID 8931701 1996 Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

PMID 8528199 1995 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.

PMID 27264129 2011 Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.

PMID 26261240 2015 SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

PMID 28931895 2017 Defective thymic output in WAS patients is associated with abnormal actin organization.

PMID 8595430 1995 Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.