Shared genetic causes of cardiac hypertrophy in children and adults - Wikidata - wikimedia - TriplyDB

Shared genetic causes of cardiac hypertrophy in children and adults

Shared genetic causes of cardiac hypertrophy in children and adults

http://www.wikidata.org/entity/Q28276100

about

A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease Genetic Misdiagnoses and the Potential for Health Disparities Epigenetic regulation in cardiac fibrosis Importance of genetic evaluation and testing in pediatric cardiomyopathy Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction Heart failure: advanced development in genetics and epigenetics Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice Network medicine: a network-based approach to human disease Genetic determinants of myocardial dysfunction.Risk factors for sudden cardiac death in childhood hypertrophic cardiomyopathy: A systematic review and meta-analysis.Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.Genetic tools and algorithms for gene discovery in major congenital anomalies.Identification of human housekeeping genes and tissue-selective genes by microarray meta-analysis.Genetics of hypertrophic cardiomyopathy.Truncations of titin causing dilated cardiomyopathy.Subdomain location of mutations in cardiac actin correlate with type of functional change.Estimate of the abundance of cardiomyopathic mutations in the β-myosin gene.Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure.Role of genomics in cardiovascular medicine.Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.Molecular genetics made simple.Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations Sarcomere gene mutations in hypertrophy and heart failure.Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.Structural and functional aspects of the myosin essential light chain in cardiac muscle contraction.PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management?Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.

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Shared genetic causes of cardiac hypertrophy in children and adults

http://www.wikidata.org/entity/Q28276100

description

2008 nî lūn-bûn

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2008 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2008 թվականի մայիսին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

@zh-hk

2008年論文

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2008年論文

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2008年论文

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name

Shared genetic causes of cardiac hypertrophy in children and adults

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Shared genetic causes of cardiac hypertrophy in children and adults

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Shared genetic causes of cardiac hypertrophy in children and adults

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type

label

Shared genetic causes of cardiac hypertrophy in children and adults

@ast

Shared genetic causes of cardiac hypertrophy in children and adults

@en

Shared genetic causes of cardiac hypertrophy in children and adults

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prefLabel

Shared genetic causes of cardiac hypertrophy in children and adults

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Shared genetic causes of cardiac hypertrophy in children and adults

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Shared genetic causes of cardiac hypertrophy in children and adults

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The New England Journal of Medicine

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Shared genetic causes of cardiac hypertrophy in children and adults

@en

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Amy E Roberts

http://www.w3.org/2001/XMLSchema#string

Andres Menesses

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Barbara McDonough

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Christine E Seidman

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Hiroyuki Morita

http://www.w3.org/2001/XMLSchema#string

J G Seidman

http://www.w3.org/2001/XMLSchema#string

Raju Kucherlapati

http://www.w3.org/2001/XMLSchema#string

P2860

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

dbSNP: the NCBI database of genetic variation

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

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

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

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1899-908

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scholarly article

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3231084

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10.1056/NEJMOA075463

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18

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358

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Jeffrey A Towbin

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2008-05-01T00:00:00Z

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5448459

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18403758

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2752150

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