Associated Papers
A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.
Chen T et al.
Journal of Pediatric Hematology/oncology, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
Braun CJ et al.
Science Translational Medicine, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging.
Jones RA et al.
Journal of Cell Science, 2013
Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.
Worth AJ et al.
Blood, 2013
[Current status and future prospects of stem cell gene therapy for primary immunodeficiency].
Uchiyama T et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2013
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.
Massaad MJ et al.
The Journal of Allergy and Clinical Immunology, 2011
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V et al.
Molecular Immunology, 2011
The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.
Blundell MP et al.
Disease Markers, 2010
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
Recent advances in the biology of WASP and WIP.
Ramesh N et al.
Immunologic Research, 2009
Multiple WASP-interacting protein recognition motifs are required for a functional interaction with N-WASP.
Peterson FC et al.
The Journal of Biological Chemistry, 2007
WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells.
Chou HC et al.
Current Biology : Cb, 2006
Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.
Kim MK et al.
Biochimica Et Biophysica Acta, 2004
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).
Luthi JN et al.
Experimental Hematology, 2003
Wiskott-Aldrich syndrome.
Nonoyama S et al.
Current Allergy and Asthma Reports, 2001
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.
Rong SB et al.
Journal of Molecular Medicine (berlin, Germany), 2000
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
Stewart DM et al.
Journal of Immunology (baltimore, Md. : 1950), 1999
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
Schindelhauer D et al.
Human Genetics, 1996