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

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

1 Jan 2019

Abstract excerpt

BACKGROUND: MYBPC3 splicing errors are a common cause of hypertrophic cardiomyopathy (HCM). Variants affecting essential splice-site dinucleotides inhibit splicing, whereas the impact of variants at conserved flanking nucleotides is less clear. We evaluated the contribution of MYBPC3 splice-site variants in a large cohort of patients with HCM and assessed the impact on splicing with RNA analysis. METHODS:...

Topics

Join the communities discussing this publication.

Cardiac electrophysiology and arrhythmias
Cardiomyopathy and Myosin Studies
Nuclear Structure and Function

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30645170
DOI: 10.1161/circgen.118.002368

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic CardiomyopathyPMID 30645170Read ↗

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.Semantic proximity Read ↗

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac deathSemantic proximity Read ↗

Protein haploinsufficiency drivers identify<i>MYBPC3</i>mutations that cause hypertrophic cardiomyopathySemantic proximity Read ↗

Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.Semantic proximity Read ↗

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.Semantic proximity Read ↗

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.Semantic proximity Read ↗

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.Semantic proximity Read ↗

Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in <i>MYBPC3</i>Semantic proximity Read ↗

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correctionSemantic proximity Read ↗

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.Semantic proximity Read ↗

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