(Q35587444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769673%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy (English)

1 reference

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7 February 2020

11

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7 February 2020

author name string

Snigdha Tripathi

1

1 reference

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7 February 2020

Imke Schultz

2

1 reference

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7 February 2020

Edgar Becker

3

1 reference

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7 February 2020

Judith Montag

4

1 reference

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7 February 2020

Bianca Borchert

5

1 reference

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7 February 2020

Antonio Francino

6

1 reference

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7 February 2020

Francisco Navarro-Lopez

7

1 reference

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7 February 2020

Andreas Perrot

8

1 reference

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7 February 2020

Cemil Özcelik

9

1 reference

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7 February 2020

Karl-Josef Osterziel

10

1 reference

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7 February 2020

Bernhard Brenner

12

1 reference

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7 February 2020

Theresia Kraft

13

1 reference

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7 February 2020

publication date

19 July 2011

1 reference

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Basic Research in Cardiology

7 February 2020

published in

1 reference

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7 February 2020

volume

106

1 reference

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7 February 2020

issue

6

1 reference

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7 February 2020

page(s)

1041-1055

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00395-011-0205-9

7 February 2020

exact match

0 references

cites work

mRNA secondary structures fold sequentially but exchange rapidly in vivo

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Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

27 July 2018

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The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium.

27 July 2018

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

27 July 2018

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation

27 July 2018

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Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Allele-specific gene expression differences in humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals

27 July 2018

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Phenotypic diversity in hypertrophic cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Heteroduplexes in mixed-template amplifications: formation, consequence and elimination by 'reconditioning PCR'

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Mutation of the myosin converter domain alters cross-bridge elasticity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Genomic imprinting: parental influence on the genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

The Genetic Basis for Cardiomyopathy

27 July 2018

1 reference

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The future in hypertrophic cardiomyopathy: important clues and potential advances from an understanding of the genotype phenotype relationship

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Molecular genetic studies of familial hypertrophic cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Molecular mechanisms regulating the myofilament response to Ca2+: implications of mutations causal for familial hypertrophic cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

Unequal expression of NF1 alleles.

27 July 2018

1 reference

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

27 July 2018

1 reference

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Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3228959

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

27 July 2018

1 reference

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Absolute mRNA quantification using the polymerase chain reaction (PCR). A novel approach by a PCR aided transcript titration assay (PATTY).

27 July 2018

1 reference

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

27 July 2018

1 reference

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Cis-acting regulatory variation in the human genome

27 July 2018

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

21 January 2018

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Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

21 January 2018

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Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

21 January 2018

1 reference

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

21 January 2018

1 reference

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Calcium sensitivity of force in human ventricular cardiomyocytes from donor and failing hearts.

26 September 2018

1 reference

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

26 September 2018

1 reference

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Allelic Variation in Human Gene Expression

26 September 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00395-011-0205-9

Hypertrophic cardiomyopathy

21 January 2018

1 reference

12 December 2020

Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients

1 reference

12 December 2020

Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients

1 reference

12 December 2020

Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

1 reference

12 December 2020

Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy

1 reference

12 December 2020

Regulation of splicing enhancer activities by RNA secondary structures

1 reference

12 December 2020

American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Europ

1 reference

12 December 2020

Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS

1 reference

12 December 2020

The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA

1 reference

12 December 2020

Point mutations in human beta cardiac myosin heavy chain have differential effects on sarcomeric structure and assembly: an ATP binding site change disrupts both thick and thin filaments, whereas hypertrophic cardiomyopathy mutations display normal

1 reference

12 December 2020

10.1007/S00395-011-0205-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21769673%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

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7 February 2020

1 reference