Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. - Wikidata - awgldk - TriplyDB

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

http://www.wikidata.org/entity/Q36960609

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Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy Clinical utility of cardiovascular magnetic resonance in hypertrophic cardiomyopathy Myosin Binding Protein C Positioned to Play a Key Role in Regulation of Muscle Contraction: Structure and Interactions of Domain C1 Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations The effect of myosin RLC phosphorylation in normal and cardiomyopathic mouse hearts Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice Prox1 maintains muscle structure and growth in the developing heart Hypertrophic cardiomyopathy mimicking acute anterior myocardial infarction associated with sudden cardiac death Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish Percutaneous Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: From Experiment to Standard of Care Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.In vitro rescue study of a malignant familial hypertrophic cardiomyopathy phenotype by pseudo-phosphorylation of myosin regulatory light chain.Influence of a constitutive increase in myofilament Ca(2+)-sensitivity on Ca(2+)-fluxes and contraction of mouse heart ventricular myocytes Quantitative Proteomics Analysis Reveals Novel Targets of miR-21 in Zebrafish Embryos β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations Genetic tools and algorithms for gene discovery in major congenital anomalies.Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice Enrichment analysis applied to disease prognosis Genetics of hypertrophic cardiomyopathy.High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort Remodeling of the heart in hypertrophy in animal models with myosin essential light chain mutations.Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation--the clinical significance of having the mutation.Epigenomes: the missing heritability in human cardiovascular disease?Prioritizing disease candidate proteins in cardiomyopathy-specific protein-protein interaction networks based on "guilt by association" analysis.Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies Vinculin and talin: focus on the myocardium Hypertrophic cardiomyopathy: a review Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.Synchronous cardiac arrest in monozygotic twins with hypertrophic cardiomyopathy--is sudden cardiac death genetically pre-programmed?Effect of a myosin regulatory light chain mutation K104E on actin-myosin interactions.

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

http://www.wikidata.org/entity/Q36960609

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

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J.1540-8167.2007.00965.X

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Journal of Cardiovascular Electrophysiology

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.

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Christine E Seidman

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Jonathan G Seidman

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Ronny Alcalai

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P2860

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

Genetics of arrhythmogenic right ventricular cardiomyopathy

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

Sudden death due to troponin T mutations

A mouse model of familial hypertrophic cardiomyopathy

The Genetic Basis for Cardiomyopathy

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

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10.1111/J.1540-8167.2007.00965.X

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