Condition: THROMBOCYTOPENIA 1 (disorder)


rs132630268 in WAS gene and THROMBOCYTOPENIA 1 (disorder) PMID 17213309 2007 WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

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

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

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

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

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

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

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

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

PMID 7795648 1995 X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

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

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

PMID 11877312 2002 Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

PMID 11167787 2001 Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

PMID 23160469 2013 Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.

PMID 12591280 2003 X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP).

PMID 16562789 2006 A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.

PMID 10575547 1999 Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

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

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

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

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

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

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

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

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

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

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

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.

PMID 27264129 2011 Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A, Val75Met).

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

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 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.