(Q27694507)

title

Research priorities in sarcomeric cardiomyopathies (English)

1 reference

1 reference

Jolanda van der Velden

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Bjorn C. Knollmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Carolyn Y Ho

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jil C Tardiff

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Iacopo Olivotto

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Lucie Carrier

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

1 April 2015

1 reference

published in

Cardiovascular Research

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

105

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

4

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

449-456

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

Targets for therapy in sarcomeric cardiomyopathies

1 June 2020

cites work

1 reference

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Animal and in silico models for the study of sarcomeric cardiomyopathies

20 March 2017

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Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy

20 March 2017

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Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity

20 March 2017

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Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

20 March 2017

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Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

20 March 2017

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Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

20 March 2017

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20 March 2017

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

20 March 2017

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Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes

20 March 2017

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Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

20 March 2017

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Ubiquitin-proteasome system and hereditary cardiomyopathies

20 March 2017

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Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice

20 March 2017

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Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations

20 March 2017

1 reference

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Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice

20 March 2017

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Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy

20 March 2017

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Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

20 March 2017

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Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice

20 March 2017

1 reference

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How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

20 March 2017

1 reference

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Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies

20 March 2017

1 reference

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The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy

20 March 2017

1 reference

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Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice

20 March 2017

1 reference

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

20 March 2017

1 reference

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Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Mutations in sarcomere protein genes in left ventricular noncompaction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

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

20 March 2017

1 reference

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

20 March 2017

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Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations

29 September 2017

1 reference

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FHL2 expression and variants in hypertrophic cardiomyopathy

29 September 2017

1 reference

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Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy

29 September 2017

1 reference

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2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

29 September 2017

1 reference

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Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy

29 September 2017

1 reference

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Proteasomal and lysosomal protein degradation and heart disease

29 September 2017

1 reference

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A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD).

29 September 2017

1 reference

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Hypertrophic cardiomyopathy: prognostic factors and survival analysis in 128 Egyptian patients

29 September 2017

1 reference

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Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Focal energy deprivation underlies arrhythmia susceptibility in mice with calcium-sensitized myofilaments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

HCM-linked ∆160E cardiac troponin T mutation causes unique progressive structural and molecular ventricular remodeling in transgenic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Evaluating treatment efficacy by multiple end points in phase II acute heart failure clinical trials: analyzing data using a global method

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Effects of R92 mutations in mouse cardiac troponin T are influenced by changes in myosin heavy chain isoform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation are characterized by reduced myocardial efficiency in the absence of hypertrophy and microvascular dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

The coronary circulation and blood flow in left ventricular hypertrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Increased myofilament Ca2+-sensitivity and arrhythmia susceptibility.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

29 September 2017

1 reference

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Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Coronary microvascular dysfunction

29 September 2017

1 reference

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Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

29 September 2017

1 reference

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Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Developmental origins of hypertrophic cardiomyopathy phenotypes: a unifying hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Multiple myocardial crypts on modified long-axis view are a specific finding in pre-hypertrophic HCM mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Hypertrophy, fibrosis, and sudden cardiac death in response to pathological stimuli in mice with mutations in cardiac troponin T.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Oxidation of myofibrillar proteins in human heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Familial hypertrophic cardiomyopathy: Functional effects of myosin mutation R723G in cardiomyocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCVR%2FCVV019

Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375392

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

27 November 2018

1 reference

12 December 2020

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

1 reference

12 December 2020

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

1 reference

12 December 2020

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies

1 reference

12 December 2020

Myosin-driven rescue of contractile reserve and energetics in mouse hearts bearing familial hypertrophic cardiomyopathy-associated mutant troponin T is mutation-specific

1 reference

12 December 2020

Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice

1 reference

12 December 2020

Spectrum and clinical significance of systolic function and myocardial fibrosis assessed by cardiovascular magnetic resonance in hypertrophic cardiomyopathy

1 reference

12 December 2020

Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopathy

1 reference

12 December 2020

Identifiers

DOI

10.1093/CVR/CVV019

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

25631582

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25631582%20AND%20SRC:MED&resulttype=core&format=json