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

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About: Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia Goto Sponge NotDistinct Permalink

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scientific article published on 27 June 2006

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2006 (fr) наукова стаття, опублікована в жовтні 2006 (uk) im Oktober 2006 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 27 June 2006 (en) artículu científicu espublizáu en xunu de 2006 (ast)
publication date	wds:Q61053886-54D9F7AB-145D-4FA8-99FF-345FCB18A660
publication date	2006-06-27 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q61053886-4985D05B-F3B2-43FE-AA17-72A46635D8B9
language of work or name	English
author name string	wds:Q61053886-206575A7-C0F9-4353-9A05-E40074D9E945 wds:Q61053886-242C0CAD-E7E7-4CE8-B200-893658702448 wds:Q61053886-457AF246-6BA4-4064-9A56-9EF14BB68DF5 wds:Q61053886-C7D99B30-8A22-446B-AB22-C00987E42C5D wds:Q61053886-C85DB55F-B478-4C16-A991-9D6E914DF2E5 wds:Q61053886-D87BBD2D-0AC1-4A7D-914F-3C0DC4AF7623 wds:Q61053886-E1292C9F-382A-421A-BD26-9C024DDDF3A2 wds:Q61053886-F71BC834-5670-49CB-A6B8-A71BDE08E149
author name string	Giles O Cory Christine Kinnon Helena Kempski Michael P Blundell Yolanda Calle Jo Sinclair Ian M Hann Phil J Ancliff
rdfs:label	Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (en) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (nl)
skos:prefLabel	Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (en) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (nl)
name	Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (en) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (nl)
author	wds:Q61053886-1114343B-B904-4E6E-A67C-7FBB023678BA wds:Q61053886-478EF185-8FB7-4FAF-94F8-5705FBC2855D wds:Q61053886-C6DC7534-4C6B-4C20-9EF3-E719C9A66240 wds:Q61053886-D257B48B-B091-412B-8C4E-834B5CA3C7AE wds:Q61053886-E5A6F221-6A6C-41B8-8AEF-BBCFB59E63C8 wds:Q61053886-EC708FE3-5859-4D37-BA42-C4C7B2701DA2
author	Gareth E. Jones Siobhan O Burns Rosemary Gale David C Linch Adrian Thrasher Austen Worth
title	wds:Q61053886-1E8B011E-3025-4764-B9F2-5446A77BB259
title	Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia (en)
page(s)	wds:Q61053886-61A0A4E2-78DE-4854-BD67-4506F5DE864B
page(s)	2182-2189
instance of	wds:Q61053886-98C6A179-BCDD-4503-8B06-43E66111CAFC
instance of	scholarly article
main subject	wds:Q61053886-EA868473-BFF1-4E4F-A88F-32B57A789C76
main subject	Wiskott-Aldrich syndrome
PubMed ID	wds:Q61053886-4F7B2F29-DB63-48F2-A961-CB6DD2854CB0
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16804117
PubMed ID	16804117
published in	wds:Q61053886-173A09B7-5C9D-4AA8-9C79-1142E7899D58
published in	Blood
issue	wds:Q61053886-55861943-FE94-4B6D-A6EF-152B0AA266C4
volume	wds:Q61053886-4BFA564D-C563-422C-9AFD-EA15BBB91782
issue	7
volume	108
DOI	wds:Q61053886-E7F44C7B-02BF-4342-9E22-CABCA107B87F
DOI	http://dx.doi.org/10.1182/BLOOD-2006-01-010249
DOI	10.1182/BLOOD-2006-01-010249
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q61053886
is cites work of	Ajuba functions as a histone deacetylase-dependent co-repressor for autoregulation of the growth factor-independent-1 transcription factor Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome Phosphorylation of WASp is a key regulator of activity and stability in vivo Myelodysplastic syndromes: the complexity of stem-cell diseases Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind Role of WASP in cell polarity and podosome dynamics of myeloid cells Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis A syndrome with congenital neutropenia and mutations in G6PC3 Neutrophil elastase in cyclic and severe congenital neutropenia Variation Ontology for annotation of variation effects and mechanisms Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Excess F-actin mechanically impedes mitosis leading to cytokinesis failure in X-linked neutropenia by exceeding Aurora B kinase error correction capacity The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging Molecular difference between WASP and N-WASP critical for chemotaxis of T-cells towards SDF-1α. Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration Evaluation and management of patients with isolated neutropenia Physical mechanisms of signal integration by WASP family proteins. WASP: a key immunological multitasker Cdc42 regulates Fc gamma receptor-mediated phagocytosis through the activation and phosphorylation of Wiskott-Aldrich syndrome protein (WASP) and neural-WASP. Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation Current insights into inherited bone marrow failure syndromes Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia Activating mutations of N-WASP alter Shigella pathogenesis Defects of leukocyte migration in primary immunodeficiencies Rho GTPases and regulation of hematopoietic stem cell localization Three-dimensional reconstruction of protein networks provides insight into human genetic disease G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. Regulation of WASp by phosphorylation: Activation or other functions? Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment

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