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

Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy.

JCI insight - 30 Jan 2020

Helms Adam S, Tang Vi T, O'Leary Thomas S, Friedline Sabrina, Wauchope Mick, Arora Akul, Wasserman Aaron H, Smith Eric D, Lee Lap Man, Wen Xiaoquan W, Shavit Jordan A, Liu Allen P, Previs Michael J, Day Sharlene M

Abstract excerpt

Mutations in cardiac myosin binding protein C (MyBP-C, encoded by MYBPC3) are the most common cause of hypertrophic cardiomyopathy (HCM). Most MYBPC3 mutations result in premature termination codons (PTCs) that cause RNA degradation and a reduction of MyBP-C in HCM patient hearts. However, a reduction in MyBP-C has not been consistently observed in MYBPC3-mutant induced pluripotent stem cell cardiomyocytes...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Hypertrophic
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Gene Editing

Share to Muscle Development

Share to Myocytes, Cardiac

Share to Sarcomeres

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 31877118
DOI: 10.1172/jci.insight.133782
PMCID: PMC7098724

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy.PMID 31877118Read ↗

A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in MYBPC3 carriers in agingSemantic proximity Read ↗

MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Variable cMyBP-C expression from cell to cell in a MYBPC3c.927-2 A>G hiPSC-CM model recapitulates HCM patient phenotype.Semantic proximity Read ↗

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.Semantic proximity Read ↗

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.Semantic proximity Read ↗

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

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.Semantic proximity Read ↗

Missense variants in the myosin binding domains of <i>MYBPC3</i> and <i>MYBPHL</i> impair sarcomere incorporationSemantic proximity Read ↗

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