Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes (Q33382439)

26 July 2017

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title

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes (English)

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26 July 2017

Wiskott-Aldrich syndrome

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Hans D Ochs

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26 July 2017

1 January 2009

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26 July 2017

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26 July 2017

44

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26 July 2017

1-3

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26 July 2017

84-88

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https://scigraph.springernature.com/pub.10.1007/s12026-008-8084-3

26 July 2017

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cites work

The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappa B (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement.

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Crossref

https://api.crossref.org/works/10.1007%2FS12026-008-8084-3

Intrinsic dendritic cell abnormalities in Wiskott-Aldrich syndrome

21 January 2018

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12 December 2020

Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation

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12 December 2020

WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function

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12 December 2020

The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse

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12 December 2020

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

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12 December 2020

Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein

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12 December 2020

Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity

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12 December 2020

The Cdc42/Rac interactive binding region motif of the Wiskott Aldrich syndrome protein (WASP) is necessary but not sufficient for tight binding to Cdc42 and structure formation

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12 December 2020

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

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12 December 2020

The Wiskott-Aldrich syndrome. A disorder with a possible defect in antigen processing or recognition.

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12 December 2020

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

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12 December 2020

Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

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12 December 2020

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

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12 December 2020

T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses.

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12 December 2020

Wiskott-Aldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis

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12 December 2020

Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis

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12 December 2020

Clinical course of patients with WASP gene mutations

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12 December 2020

Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses

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12 December 2020

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

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12 December 2020

The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets

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12 December 2020

Rho GTPases and the actin cytoskeleton

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12 December 2020

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation

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12 December 2020

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

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12 December 2020

Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein

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12 December 2020

Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome

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12 December 2020

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

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12 December 2020

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

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12 December 2020

Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome.

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12 December 2020

Cellular control of actin nucleation

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12 December 2020

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

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12 December 2020

Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine.

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12 December 2020

Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation

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12 December 2020

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

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12 December 2020

10.1007/S12026-008-8084-3

Identifiers

DOI

1 reference

PubMed ID

19082760

Dimensions Publication ID

26 July 2017

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PubMed ID

19082760