Associated Papers
Immune-related actinopathies at the cross-road of immunodeficiency, autoimmunity and autoinflammation.
Dupré L et al.
Nature Reviews. Immunology, 2025
Controlled WASp activity regulates the proliferative response for Treg cell differentiation in the thymus.
Vasconcelos-Fontes L et al.
European Journal of Immunology, 2024
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Hsu AP
Clinical and Experimental Immunology, 2023
Understanding immunoactinopathies: A decade of research on WAS gene defects.
Vieira RC et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
Marx D et al.
Blood Advances, 2022
The mouse homolog of the mutant WASp responsible for human X-linked neutropenia renders granulopoiesis ineffective.
Ikeda M et al.
Biochemical and Biophysical Research Communications, 2022
The WASp L272P gain-of-function mutation alters dendritic cell coordination of actin dynamics for migration and adhesion.
Oliveira MMS et al.
Journal of Leukocyte Biology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
He M et al.
The Journal of Allergy and Clinical Immunology, 2022
Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells.
Kritikou JS et al.
Jci Insight, 2021
When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.
Sprenkeler EGG et al.
Journal of Innate Immunity, 2021
Zebrafish Cancer Predisposition Models.
Kobar K et al.
Frontiers in Cell and Developmental Biology, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Recurrent sterile abscesses in a case of X-linked neutropenia.
Biggs CM et al.
Pediatric Dermatology, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
[X-linked neutropenia caused by gain-of-function mutation in WAS gene: two cases report and literature review].
Xia Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive.
Keszei M et al.
The Journal of Clinical Investigation, 2018
Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients.
Coppe A et al.
Human Mutation, 2018
Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation.
Kobayashi M et al.
Annals of Hematology, 2018
Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.
Candotti F
Journal of Clinical Immunology, 2018
Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells.
Kuznetsov NV et al.
Genome Medicine, 2017
Wiskott-Aldrich syndrome: Two case reports with a novel mutation.
Kamuran K et al.
Pediatric Hematology and Oncology, 2017
Molecular difference between WASP and N-WASP critical for chemotaxis of T-cells towards SDF-1α.
Jain N et al.
Scientific Reports, 2015
X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.
Jain N et al.
Journal of Biomedical Science, 2014
The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells.
Looi CY et al.
International Immunology, 2014
Wiskott-Aldrich syndrome protein--dynamic regulation of actin homeostasis: from activation through function and signal termination in T lymphocytes.
Matalon O et al.
Immunological Reviews, 2013
Actin cytoskeletal defects in immunodeficiency.
Moulding DA et al.
Immunological Reviews, 2013
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E et al.
Science (new York, N.y.), 2013
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
T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation.
Watanabe Y et al.
The Journal of Allergy and Clinical Immunology, 2013
Two cases of Wiskott-Aldrich syndrome in neonates due to gene mutations.
Zhang S et al.
Fetal and Pediatric Pathology, 2013
Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia.
Yoshimi A et al.
Pediatric Blood & Cancer, 2013
Wiskott-Aldrich syndrome: a comprehensive review.
Massaad MJ et al.
Annals of the New York Academy of Sciences, 2013
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features.
Ariga T
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
Tyrosine phosphorylation of WASP promotes calpain-mediated podosome disassembly.
Macpherson L et al.
Haematologica, 2012
Three-dimensional reconstruction of protein networks provides insight into human genetic disease.
Wang X et al.
Nature Biotechnology, 2012
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V et al.
Molecular Immunology, 2011
Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome.
Albert MH et al.
Current Opinion in Hematology, 2011
A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.
Burns SO et al.
Blood, 2010
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.
Westerberg LS et al.
The Journal of Experimental Medicine, 2010
WASP: a key immunological multitasker.
Thrasher AJ et al.
Nature Reviews. Immunology, 2010
Regulation of WASp by phosphorylation: Activation or other functions?
Dovas A et al.
Communicative & Integrative Biology, 2010
Physical mechanisms of signal integration by WASP family proteins.
Padrick SB et al.
Annual Review of Biochemistry, 2010
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