Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L270P
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WAS

NM_000377.3:p.L270P

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

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

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

[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

Unraveling the molecular effects of mutation L270P on Wiskkot-Aldrich syndrome protein: insights from molecular dynamics approach.

Palaniappan C et al.

Journal of Biomolecular Structure & Dynamics, 2016

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

Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.

Skokowa J et al.

Blood, 2014

Wiskott-Aldrich Syndrome causing mutation, Pro373Ser restricts conformational changes essential for WASP activity in T-cells.

Jain N et al.

Biochimica Et Biophysica Acta, 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

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

A novel phospholipase D2-Grb2-WASp heterotrimer regulates leukocyte phagocytosis in a two-step mechanism.

Kantonen S et al.

Molecular and Cellular Biology, 2011

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

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

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

Rajmohan R et al.

Fems Yeast Research, 2009

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Xia J et al.

British Journal of Haematology, 2009

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

Beel K et al.

Haematologica, 2009

Activating mutations of N-WASP alter Shigella pathogenesis.

Adamovich DA et al.

Biochemical and Biophysical Research Communications, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

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

Qualitative disorders of platelets and megakaryocytes.

Nurden AT

Journal of Thrombosis and Haemostasis : Jth, 2005

Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response.

Westerberg L et al.

Blood, 2005

Congenital neutropenia: advances in diagnosis and treatment.

Badolato R et al.

Current Opinion in Allergy and Clinical Immunology, 2004

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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."