Associated Papers
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Crestani E et al.
The Journal of Allergy and Clinical Immunology, 2015
Evolutionary rescue by compensatory mutations is constrained by genomic and environmental backgrounds.
Filteau M et al.
Molecular Systems Biology, 2015
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.
Sarkar K et al.
Blood, 2015
X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.
Jain N et al.
Journal of Biomedical Science, 2014
25200405 (PubMed )
Supplement: 12929_2014_91_MOESM1_ESM.pdf
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V et al.
Molecular Immunology, 2011
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
Andreu N et al.
International Journal of Molecular Medicine, 2007
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
Jin Y et al.
Blood, 2004
Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.
Fillat C et al.
Human Mutation, 2000
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