Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia
about
ACTN1 mutations cause congenital macrothrombocytopeniaGenome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemiaThe cytoskeleton in cell-autonomous immunity: structural determinants of host defenceActin cytoskeletal defects in immunodeficiencyAn order of magnitude faster AIP1-associated actin disruption than nucleation by the Arp2/3 complex in lamellipodiaActin-interacting protein 1 controls assembly and permeability of intestinal epithelial apical junctionsWdr1-mediated cell shape dynamics and cortical tension are essential for epidermal planar cell polarity.The QKI-6 RNA binding protein regulates actin-interacting protein-1 mRNA stability during oligodendrocyte differentiation.WDR1 presence in the songbird basilar papilla.Two actin-interacting protein 1 isoforms function redundantly in the somatic gonad and are essential for reproduction in Caenorhabditis elegansLength regulation of mechanosensitive stereocilia depends on very slow actin dynamics and filament-severing proteins.LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B.Does size matter in platelet production?Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1Autoantibody against WD repeat domain 1 is a novel serological biomarker for screening of thyroid neoplasia.Aip1 promotes actin filament severing by cofilin and regulates constriction of the cytokinetic contractile ringThe two actin-interacting protein 1 genes have overlapping and essential function for embryonic development in Caenorhabditis elegansAberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.Wdr1-Dependent Actin Reorganization in Platelet Activation.Inside view of cell locomotion through single-molecule: fast F-/G-actin cycle and G-actin regulation of polymer restoration.AIP1-mediated actin disassembly is required for postnatal germ cell migration and spermatogonial stem cell niche establishment.Expression profiling of human genetic and protein interaction networks in type 1 diabetesImmune pathology associated with altered actin cytoskeleton regulation.Differences of immune disorders between Alzheimer's disease and breast cancer based on transcriptional regulation.Platelet WDR1 suppresses platelet activity and is associated with cardiovascular disease.Lysophosphatidic acid receptor activation affects the C13NJ microglia cell line proteome leading to alterations in glycolysis, motility, and cytoskeletal architecture.Trp-Asp (WD) Repeat Domain 1 Is Essential for Mouse Peri-implantation Development and Regulates Cofilin Phosphorylation.Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiencyWDR1 and CLNK gene polymorphisms correlate with serum glucose and high-density lipoprotein levels in Tibetan gout patients.WDR1 expression in normal and noise-damaged Sprague-Dawley rat cochleae.Rituximab in B-Cell Hematologic Malignancies: A Review of 20 Years of Clinical Experience.Functions of actin-interacting protein 1 (AIP1)/WD repeat protein 1 (WDR1) in actin filament dynamics and cytoskeletal regulation.Decreased TESK1-mediated cofilin 1 phosphorylation in the jejunum of IBS-D patients may explain increased female predisposition to epithelial dysfunction.Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters.Specific cytotoxic T-cell immune responses against autoantigens recognized by chronic lymphocytic leukaemia cells.Genome-wide association analysis of age at onset in schizophrenia in a European-American sample.Platelet proteome in healthy volunteers who smoke
P2860
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P2860
Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia
description
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2007
@ast
im Oktober 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2007/10/01)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/10/01)
@nl
наукова стаття, опублікована в жовтні 2007
@uk
مقالة علمية (نشرت في أكتوبر 2007)
@ar
name
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@ast
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@en
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@nl
type
label
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@ast
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@en
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@nl
prefLabel
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@ast
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@en
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@nl
P2093
P2860
P50
P3181
P1433
P1476
Mutations in the cofilin partn ...... ease and macrothrombocytopenia
@en
P2093
Athanasia D Panopoulos
Douglas F Hacking
Ian P Wicks
Jian-Guo Zhang
Katya J Henley
Lubna H Tahtamouni
Monica J Justice
Paquita Nurden
Roslynn A Stirzaker
Tracy A Willson
P2860
P304
P3181
P356
10.1182/BLOOD-2006-10-055087
P407
P577
2007-05-21T00:00:00Z