(Q37714017)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

review article

1 reference

title

Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Qian Xu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Shannamar Dewey

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Susan Nguyen

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

publication date

16 March 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular and Cellular Cardiology

21 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

899-909

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development

7 January 2021

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7 January 2021

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Mutations in sarcomere protein genes in left ventricular noncompaction

7 January 2021

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Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation

7 January 2021

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Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

7 January 2021

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Isolated left ventricular non-compaction, not hypertrophic cardiomyopathy

7 January 2021

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Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?

7 January 2021

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Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations

7 January 2021

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Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients

7 January 2021

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Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations

7 January 2021

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

7 January 2021

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Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

7 January 2021

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

7 January 2021

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7 January 2021

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Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy

7 January 2021

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Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice

7 January 2021

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A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients

7 January 2021

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Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.

7 January 2021

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7 January 2021

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Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation

7 January 2021

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Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy

7 January 2021

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Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy

7 January 2021

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Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments

7 January 2021

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Gene mutations in apical hypertrophic cardiomyopathy

7 January 2021

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Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

7 January 2021

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Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

7 January 2021

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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

7 January 2021

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Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin

7 January 2021

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7 January 2021

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Evaluation of the flanking nucleotide sequences of sarcomeric hypertrophic cardiomyopathy substitution mutations.

7 January 2021

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 January 2021

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Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy

7 January 2021

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A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin

7 January 2021

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Sarcomeric proteins and inherited cardiomyopathies.

7 January 2021

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Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes

7 January 2021

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The miscommunicative cardiac cell: when good proteins go bad.

7 January 2021

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ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene

7 January 2021

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Titin mutations as the molecular basis for dilated cardiomyopathy

7 January 2021

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A contemporary approach to hypertrophic cardiomyopathy.

7 January 2021

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Alterations of tension-dependent ATP utilization in a transgenic rat model of hypertrophic cardiomyopathy

7 January 2021

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Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation

7 January 2021

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Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice

7 January 2021

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R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts

7 January 2021

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Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.

7 January 2021

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Shifts in the myosin heavy chain isozymes in the mouse heart result in increased energy efficiency

7 January 2021

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Disease-Modifying Mutations in Familial Hypertrophic Cardiomyopathy

7 January 2021

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Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations

7 January 2021

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Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy

7 January 2021

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A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy

7 January 2021

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A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

7 January 2021

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A mouse model of familial hypertrophic cardiomyopathy

7 January 2021

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Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy

7 January 2021

1 reference

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Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

A human polymorphism of protein phosphatase-1 inhibitor-1 is associated with attenuated contractile response of cardiomyocytes to beta-adrenergic stimulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

7 January 2021

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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

7 January 2021

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Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

7 January 2021

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Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

inferred from DOI database lookup

7 January 2021

based on heuristic

Novel insights into the clinical manifestations and treatment of hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2010.03.005

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YJMCC.2010.03.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20298698%20AND%20SRC:MED&resulttype=core&format=json