(Q34626001)

3 August 2017

title

Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy (English)

1 reference

hypertrophic cardiomyopathy

3 August 2017

main subject

1 reference

1

1 reference

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12 June 2020

Sarah N Bartolone

4

1 reference

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12 June 2020

Amelia Glazier

5

1 reference

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12 June 2020

Francis D. Pagani

6

1 reference

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12 June 2020

Sakthivel Sadayappan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Margaret V Westfall

11

1 reference

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12 June 2020

author name string

Frank M Davis

2

1 reference

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12 June 2020

David Coleman

3

1 reference

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12 June 2020

Jaime M Yob

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ellen Pedersen

9

1 reference

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12 June 2020

Robert Lyons

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Richard Jones

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Mark W Russell

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sharlene M Day

14

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12 June 2020

publication date

16 July 2014

1 reference

Circulation: Cardiovascular Genetics

3 August 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

7

1 reference

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12 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

434-443

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

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

12 June 2020

cites work

1 reference

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An endogenously produced fragment of cardiac myosin-binding protein C is pathogenic and can lead to heart failure

7 July 2018

1 reference

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

7 July 2018

1 reference

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Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction

7 July 2018

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Nonsense-mediated mRNA decay: from mechanistic insights to impacts on human health

7 July 2018

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Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation

7 July 2018

1 reference

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Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

7 July 2018

1 reference

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

7 July 2018

1 reference

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Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon

7 July 2018

1 reference

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Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

Introducing sense into nonsense in treatments of human genetic diseases

7 July 2018

1 reference

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The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

7 July 2018

1 reference

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Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants

7 July 2018

1 reference

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Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice

7 July 2018

1 reference

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Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

7 July 2018

1 reference

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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

7 July 2018

1 reference

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Remodeling the cardiac sarcomere using transgenesis

7 July 2018

1 reference

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

7 July 2018

1 reference

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Thin filament protein dynamics in fully differentiated adult cardiac myocytes: toward a model of sarcomere maintenance

7 July 2018

1 reference

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A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy

7 July 2018

1 reference

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A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy

7 July 2018

1 reference

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Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

7 July 2018

1 reference

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Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

7 July 2018

1 reference

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Inherited Cardiomyopathies

26 October 2018

1 reference

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Hypertrophy pattern and regional myocardial mechanics are related in septal and apical hypertrophic cardiomyopathy.

26 October 2018

1 reference

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Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease

26 October 2018

1 reference

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Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

26 October 2018

1 reference

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COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4254656

Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy

26 October 2018

1 reference

12 December 2020

Hypertrophic cardiomyopathy

1 reference

12 December 2020

Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Comparison of two murine models of familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia

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

10.1161/CIRCGENETICS.113.000448

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25031304%20AND%20SRC:MED&resulttype=core&format=json