Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene
about
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathyRescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in miceRepair of Mybpc3 mRNA by 5'-trans-splicing in a Mouse Model of Hypertrophic CardiomyopathyGenotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic CardiomyopathyRare variant mutations in pregnancy-associated or peripartum cardiomyopathy.Sarcomere gene mutations in hypertrophy and heart failure.Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian GenomicsGenetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingDissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice.E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it allPoor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathyGenetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.
P2860
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P2860
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@ast
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@en
type
label
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@ast
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@en
prefLabel
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@ast
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@en
P2093
P2860
P356
P1433
P1476
Adverse events in families wit ...... d mutations in the MYBPC3 gene
@en
P2093
Boris T Ivandic
Christian Zugck
Dieter Weichenhan
Henning Steen
Hugo A Katus
Jörg Zehelein
Philipp Ehlermann
Raphael Zeller
Regina Pribe
Stephanie Lehrke
P2860
P2888
P356
10.1186/1471-2350-9-95
P577
2008-10-28T00:00:00Z
P5875
P6179
1011466147