Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. (Q37816783)

23 August 2017

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title

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

2

Michael J Ackerman

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

language of work or name

English

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publication date

1 December 2010

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23 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

volume

122

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

issue

23

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13 May 2020

page(s)

2441-9; discussion 2450

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

13 May 2020

cites work

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12 December 2020

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

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A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy

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Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene

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Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy

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Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene

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Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children

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The Sequence of the Human Genome

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Initial sequencing and analysis of the human genome

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The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

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Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease

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12 December 2020

Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

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12 December 2020

Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

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12 December 2020

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy

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12 December 2020

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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12 December 2020

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

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12 December 2020

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

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12 December 2020

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

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12 December 2020

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

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12 December 2020

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

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12 December 2020

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

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12 December 2020

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

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12 December 2020

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

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12 December 2020

Yield of genetic testing in hypertrophic cardiomyopathy.

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12 December 2020

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

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12 December 2020

Gene mutations in apical hypertrophic cardiomyopathy

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12 December 2020

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

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12 December 2020

Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation

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12 December 2020

Mechanical stress-strain sensors embedded in cardiac cytoskeleton: Z disk, titin, and associated structures

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12 December 2020

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy

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12 December 2020

Mutation detection in congenital long QT syndrome: cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing.

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12 December 2020

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

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12 December 2020

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

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12 December 2020

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

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12 December 2020

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy

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12 December 2020

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

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12 December 2020

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy

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12 December 2020

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

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12 December 2020

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology

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12 December 2020

Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice

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12 December 2020

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

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12 December 2020

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy

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12 December 2020

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

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12 December 2020

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

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12 December 2020

Causes of sudden death in competitive athletes

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12 December 2020

Sudden death in young athletes

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12 December 2020

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

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12 December 2020

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

1 reference

12 December 2020

A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

1 reference

12 December 2020

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

1 reference

12 December 2020

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

12 December 2020

Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations

1 reference

12 December 2020

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

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12 December 2020

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

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12 December 2020

The management of hypertrophic cardiomyopathy

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12 December 2020

Sudden death due to troponin T mutations

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12 December 2020

Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy

1 reference

12 December 2020

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

1 reference

12 December 2020

10.1161/CIRCULATIONAHA.110.954446

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6309993&resulttype=core&format=json

13 May 2020

1 reference