A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection
about
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaA method for rapidly screening functionality of actin mutants and tagged actinsCongenital defects in neutrophil dynamicsActin cytoskeletal defects in immunodeficiencyDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeActin in hair cells and hearing loss.Toward functional proteomics of alveolar macrophages.Attenuated cardiovascular hypertrophy and oxidant generation in response to angiotensin II infusion in glutaredoxin-1 knockout mice.Proteomic analysis of colonic mucosal tissue from tuberculous and ulcerative colitis patients.Quadriceps myopathy caused by skeletal muscle-specific ablation of β(cyto)-actinChemotactic signaling pathways in neutrophils: from receptor to actin assembly.Distinct functional interactions between actin isoforms and nonsarcomeric myosinsMutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.β-Actin specifically controls cell growth, migration, and the G-actin poolFunctional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndromeRescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin.Primary immunodeficiency diseases associated with neurologic manifestations.Chemokines, their receptors and human disease: the good, the bad and the itchy.Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiencyAlarmins released during local antitumor treatments play an essential role in enhancing tumor growth inhibition at treated and non-treated sites via a derivative of CCL3.Deactivation of neutrophil NADPH oxidase by actin-depolymerizing agents in a cell-free system.Ascomycete fungal actins differentially support plant spatial cell and organ development.The S100A8/A9 protein as a partner for the cytosolic factors of NADPH oxidase activation in neutrophils.Effects of a TASER® conducted energy weapon on the circulating red-blood-cell population and other factors in Sus scrofa.The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.Plant vegetative and animal cytoplasmic actins share functional competence for spatial development with protists.Mammalian Actins: Isoform-Specific Functions and Diseases.Neurological Manifestations of Primary Immunodeficiency Diseases.Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.A tumorigenic actin mutant alters fibroblast morphology and multicellular assembly properties.Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
P2860
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P2860
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A heterozygous mutation of bet ...... nction and recurrent infection
@ast
A heterozygous mutation of bet ...... nction and recurrent infection
@en
A heterozygous mutation of bet ...... nction and recurrent infection
@nl
type
label
A heterozygous mutation of bet ...... nction and recurrent infection
@ast
A heterozygous mutation of bet ...... nction and recurrent infection
@en
A heterozygous mutation of bet ...... nction and recurrent infection
@nl
prefLabel
A heterozygous mutation of bet ...... nction and recurrent infection
@ast
A heterozygous mutation of bet ...... nction and recurrent infection
@en
A heterozygous mutation of bet ...... nction and recurrent infection
@nl
P2093
P2860
P356
P1476
A heterozygous mutation of bet ...... nction and recurrent infection
@en
P2093
P2860
P304
P356
10.1073/PNAS.96.15.8693
P407
P577
1999-07-01T00:00:00Z