Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency - Wikidata - thesis-toulmin - TriplyDB

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

http://www.wikidata.org/entity/Q28250719

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Atrogin-1 and MuRF1 regulate cardiac MyBP-C levels via different mechanisms Neonatal mouse-derived engineered cardiac tissue: a novel model system for studying genetic heart disease Animal and in silico models for the study of sarcomeric cardiomyopathies Myosin binding protein C: implications for signal-transduction Importance of genetic evaluation and testing in pediatric cardiomyopathy Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.Research priorities in sarcomeric cardiomyopathies Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy How do MYBPC3 mutations cause hypertrophic cardiomyopathy?Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.The alternative heart: impact of alternative splicing in heart disease.Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1 Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus).Genetics of hypertrophic cardiomyopathy.Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy.Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked β-N-acetylglucosamine-substituted protein in human heart myofibrils Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy Kinetics of cardiac myosin isoforms in mouse myocardium are affected differently by presence of myosin binding protein-C Cardiac myosin binding protein-C: a novel sarcomeric target for gene therapy Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history Roles for cardiac MyBP-C in maintaining myofilament lattice rigidity and prolonging myosin cross-bridge lifetime.The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.Cardiac myosin binding protein C insufficiency leads to early onset of mechanical dysfunction.Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis.Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle Cardiac myosin binding protein-C: redefining its structure and function.Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.Dissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice.ADP-stimulated contraction: A predictor of thin-filament activation in cardiac disease.In vivo cardiac myosin binding protein C gene transfer rescues myofilament contractile dysfunction in cardiac myosin binding protein C null mice In vivo and in vitro cardiac responses to beta-adrenergic stimulation in volume-overload heart failure Impaired contractile function due to decreased cardiac myosin binding protein C content in the sarcomere

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Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

http://www.wikidata.org/entity/Q28250719

description

2009 nî lūn-bûn

@nan

2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2009年の論文

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2009年論文

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2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

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2009年論文

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2009年论文

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name

Evidence from human myectomy s ...... thy through haploinsufficiency

@ast

Evidence from human myectomy s ...... thy through haploinsufficiency

@en

Evidence from human myectomy s ...... thy through haploinsufficiency

@nl

type

label

Evidence from human myectomy s ...... thy through haploinsufficiency

@ast

Evidence from human myectomy s ...... thy through haploinsufficiency

@en

Evidence from human myectomy s ...... thy through haploinsufficiency

@nl

prefLabel

Evidence from human myectomy s ...... thy through haploinsufficiency

@ast

Evidence from human myectomy s ...... thy through haploinsufficiency

@en

Evidence from human myectomy s ...... thy through haploinsufficiency

@nl

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CIRCRESAHA.109.202440

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Circulation Research

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Evidence from human myectomy s ...... thy through haploinsufficiency

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Adam Jacques

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Charles Redwood

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Karen Livesey

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O'Neal Copeland

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Sebastian Carballo

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Shapour Jalilzadeh

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Victor Tsang

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3

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William McKenna

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