Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Basic research in cardiology - 1 Nov 2011

Tripathi Snigdha, Schultz Imke, Becker Edgar, Montag Judith, Borchert Bianca, Francino Antonio, Navarro-Lopez Francisco, Perrot Andreas, Özcelik Cemil, Osterziel Karl-Josef, McKenna William J, Brenner Bernhard, Kraft Theresia

Abstract excerpt

Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease, which in about 30% of the patients is caused by missense mutations in one allele of the β-myosin heavy chain (β-MHC) gene (MYH7). To address potential molecular mechanisms underlying the family-specific prognosis, we determined the relative expression of mutant versus wild-type MYH7-mRNA. We found a hitherto unknown mutation-dependent...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Allelic Imbalance
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Real-Time Polymerase Chain Reaction

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA, Messenger

Share to RNA Stability

Share to Ventricular Myosins

Source

Open in PubMed Open full text

Identifiers

PMID: 21769673
DOI: 10.1007/s00395-011-0205-9
PMCID: PMC3228959

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.PMID 21769673Read ↗

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Patient-specific hiPSC-derived cardiomyocytes indicate allelic and contractile imbalance as pathogenic factor in early-stage Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathySemantic proximity Read ↗

The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein.Semantic proximity Read ↗

Multiplexed functional assessments of <i>MYH7</i> variants in human cardiomyocytes at scaleSemantic proximity Read ↗

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype developmentSemantic proximity Read ↗

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic CardiomyopathySemantic proximity Read ↗

Heart Failure–Associated Changes in RNA Splicing of Sarcomere GenesSemantic proximity Read ↗

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

Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.Semantic proximity Read ↗

Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heartSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.