Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene
about
Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cellsDirect interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domainsThe molecular pathology of primary immunodeficienciesCdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.Cdc42-interacting protein 4 mediates binding of the Wiskott-Aldrich syndrome protein to microtubulesA mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinasesTyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PSTPIP, a cytoskeletal-associated protein.X-linked thrombocytopenia in a girl.Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome.Platelet-associated IgAs and impaired GPVI responses in platelets lacking WIP.Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literatureAnalyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.Studies of the expression of the Wiskott-Aldrich syndrome proteinA Dual Reporter Splicing Assay Using HaloTag-containing Proteins.A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO.Mutations in Drosophila enabled and rescue by human vasodilator-stimulated phosphoprotein (VASP) indicate important functional roles for Ena/VASP homology domain 1 (EVH1) and EVH2 domainsSomatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.The identification of hematopoietic-specific regulatory elements for WASp gene expression.Cytokinesis, ploidy and aneuploidy.Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
P2860
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P2860
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Identification of mutations in ...... , adjacent to the disease gene
@ast
Identification of mutations in ...... , adjacent to the disease gene
@en
type
label
Identification of mutations in ...... , adjacent to the disease gene
@ast
Identification of mutations in ...... , adjacent to the disease gene
@en
prefLabel
Identification of mutations in ...... , adjacent to the disease gene
@ast
Identification of mutations in ...... , adjacent to the disease gene
@en
P2093
P2860
P356
P1476
Identification of mutations in ...... , adjacent to the disease gene
@en
P2093
B E Radtke
R M Blaese
T L Hagemann
P2860
P304
P356
10.1073/PNAS.92.10.4706
P407
P577
1995-05-01T00:00:00Z