Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.S272P
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WAS

NM_000377.3:p.S272P

Associated Papers

Controlled WASp activity regulates the proliferative response for Treg cell differentiation in the thymus.

Vasconcelos-Fontes L et al.

European Journal of Immunology, 2024

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene.

Sun Y et al.

Intractable & Rare Diseases Research, 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

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

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

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

[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

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

Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing.

He X et al.

Molecular Medicine Reports, 2017

Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells.

Kuznetsov NV et al.

Genome Medicine, 2017

Generation of KCL029 research grade human embryonic stem cell line carrying a mutation in WAS gene.

Miere C et al.

Stem Cell Research, 2016

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

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

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

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

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

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

Gulácsy V et al.

Molecular Immunology, 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

Physical mechanisms of signal integration by WASP family proteins.

Padrick SB et al.

Annual Review of Biochemistry, 2010

G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.

Beel K et al.

Haematologica, 2009

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.

Beel K et al.

British Journal of Haematology, 2009

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.

Ochs HD

Immunologic Research, 2009

Wiskott-Aldrich syndrome.

Notarangelo LD et al.

Current Opinion in Hematology, 2008

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia.

Moulding DA et al.

The Journal of Experimental Medicine, 2007

The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.

Moratto D et al.

Expert Review of Clinical Immunology, 2007

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

Ancliff PJ et al.

Blood, 2006

The Wiskott-Aldrich syndrome.

Ochs HD et al.

The Journal of Allergy and Clinical Immunology, 2006

Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets.

Fathi M et al.

Avicenna Journal of Medical Biotechnology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."