Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.P58R
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WAS

NM_000377.3:p.P58R

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

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

Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.

Wada T et al.

Pediatric Blood & Cancer, 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

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Andreu N et al.

International Journal of Molecular Medicine, 2007

Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.

Lutskiy MI et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

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

Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology.

Ariga T et al.

Journal of Pediatric Hematology/oncology, 2004

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.

Imai K et al.

Current Opinion in Allergy and Clinical Immunology, 2003

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

Notarangelo LD et al.

Blood, 2002

[Mutation of WASP in Wiskott-Aldrich syndrome and it's effect on megakaryopoiesis].

Nonoyama S

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1998

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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."