Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy
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Alpha-cardiac actin mutations produce atrial septal defectsHuman actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitroIon-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoformsDominant negative mutant actins identified in flightless Drosophila can be classified into three classes.Subdomain location of mutations in cardiac actin correlate with type of functional change.Crystal structures of expressed non-polymerizable monomeric actin in the ADP and ATP states.Distinct functional interactions between actin isoforms and nonsarcomeric myosinsAltered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathiesMolecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population.Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.Designing heart performance by gene transfer.Role of the sarcomeric Z-disc in the pathogenesis of cardiomyopathy.Conformational dynamics of actin: effectors and implications for biological function.A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.Insights into the effects of disease-causing mutations in human actins.Do cardiac actin mutations lead to altered actomyosin interactions?Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331PMolecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.Dual roles of Gln137 of actin revealed by recombinant human cardiac muscle alpha-actin mutants.A novel approach to select differential pathways associated with hypertrophic cardiomyopathy based on gene co‑expression analysis.Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South IndiaFunctional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.Mammalian Actins: Isoform-Specific Functions and Diseases.Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits
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P2860
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy
description
2006 nî lūn-bûn
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2006 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@ast
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en-gb
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@nl
type
label
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@ast
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en-gb
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@nl
prefLabel
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@ast
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en-gb
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@nl
P2860
P356
P1476
Functional consequences of a m ...... al hypertrophic cardiomyopathy
@en
P2093
Carol S Bookwalter
Kathleen M Trybus
P2860
P304
P356
10.1074/JBC.M512935200
P407
P577
2006-06-16T00:00:00Z