Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein
about
Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanismsA common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South AsiaDouble heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathyMutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defectsHow do MYBPC3 mutations cause hypertrophic cardiomyopathy?The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathyAdrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in miceDefective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophyRescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in miceMYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correctionIn the thick of it: HCM-causing mutations in myosin binding proteins of the thick filamentDilated cardiomyopathy in homozygous myosin-binding protein-C mutant miceDominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice.Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 geneThe molecular genetic basis for hypertrophic cardiomyopathy.Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.Signaling and myosin-binding protein C.Molecular mechanisms of inherited cardiomyopathies.A hypertrophic cardiomyopathy-associated MYBPC3 mutation common in populations of South Asian descent causes contractile dysfunctionMyosin binding protein-C: a regulator of actomyosin interaction in striated muscleA novel variant of cardiac myosin-binding protein-C that is unable to assemble into sarcomeres is expressed in the aged mouse atriumMyosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.Cardiac myosin binding protein C insufficiency leads to early onset of mechanical dysfunction.Cardiac myosin binding protein-C: redefining its structure and function.Multiple forms of cardiac myosin-binding protein C exist and can regulate thick filament stabilityDissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice.Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease.Designing heart performance by gene transfer.A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy.Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.Appetite for destruction: E3 ubiquitin-ligase protection in cardiac disease.MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutationContractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy.The development of familial hypertrophic cardiomyopathy: from mutation to bedside.How do mutations in contractile proteins cause the primary familial cardiomyopathies?Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships.The genetic basis of hypertrophic cardiomyopathy in cats and humans.Proteasome dysfunction in cardiomyopathies.Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes.
P2860
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P2860
Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Novel splice donor site mutati ...... cardiac transcript and protein
@ast
Novel splice donor site mutati ...... cardiac transcript and protein
@en
Novel splice donor site mutati ...... cardiac transcript and protein
@nl
type
label
Novel splice donor site mutati ...... cardiac transcript and protein
@ast
Novel splice donor site mutati ...... cardiac transcript and protein
@en
Novel splice donor site mutati ...... cardiac transcript and protein
@nl
prefLabel
Novel splice donor site mutati ...... cardiac transcript and protein
@ast
Novel splice donor site mutati ...... cardiac transcript and protein
@en
Novel splice donor site mutati ...... cardiac transcript and protein
@nl
P2093
P2860
P356
P1476
Novel splice donor site mutati ...... cardiac transcript and protein
@en
P2093
B Vollrath
J Zehelein
P2860
P304
P356
10.1172/JCI119555
P407
P577
1997-07-15T00:00:00Z