Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q33336279

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion Actin-based motility of intracellular microbial pathogens Digenic mutations in severe congenital neutropenia Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 A syndrome with congenital neutropenia and mutations in G6PC3 The molecular pathology of primary immunodeficiencies Human genetic basis of interindividual variability in the course of infection Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging Congenital defects in neutrophil dynamics Discovery of single-gene inborn errors of immunity by next generation sequencing Actin cytoskeletal defects in immunodeficiency Molecular difference between WASP and N-WASP critical for chemotaxis of T-cells towards SDF-1α.Identification of an ATP-controlled allosteric switch that controls actin filament nucleation by Arp2/3 complex.Neutrophils: Between host defence, immune modulation, and tissue injury Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells Variation Ontology for annotation of variation effects and mechanisms Physical mechanisms of signal integration by WASP family proteins.Hierarchical regulation of WASP/WAVE proteins.Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.Bacterial actin assembly requires toca-1 to relieve N-wasp autoinhibition.A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.Qualitative disorders of platelets and megakaryocytes.A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.Congenital neutropenia: diagnosis, molecular bases and patient management.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia Wiskott-Aldrich syndrome: a comprehensive review.Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.Molecular basis of inherited thrombocytopenias.Current and emerging treatment options for Wiskott-Aldrich syndrome.Inherited biallelic CSF3R mutations in severe congenital neutropenia.

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P2860

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

http://www.wikidata.org/entity/Q33336279

description

2001 nî lūn-bûn

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2001 թուականի Մարտին հրատարակուած գիտական յօդուած

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

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

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

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type

label

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

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

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

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

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

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

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