Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.A236G
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WAS

NM_000377.3:p.A236G

Associated Papers

Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).

Soresina A et al.

Eclinicalmedicine, 2025

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

R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome.

Sarkar K et al.

The Journal of Allergy and Clinical Immunology, 2018

Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome.

Sarkar K et al.

Blood, 2014

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

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH et al.

Blood, 2010

Applications of flow cytometry for the study of primary immune deficiencies.

Oliveira JB et al.

Current Opinion in Allergy and Clinical Immunology, 2008

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

Moratto D et al.

Expert Review of Clinical Immunology, 2007

WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.

Marangoni F et al.

The Journal of Experimental 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

Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect.

Gismondi A et al.

Blood, 2004

Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression.

Allavena P et al.

European Journal of Immunology, 2001

Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.

Kim AS et al.

Nature, 2000

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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."