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

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

Human molecular genetics - 1 Dec 2005

Meurs Kathryn M, Sanchez Ximena, David Ryan M, Bowles Neil E, Towbin Jeffrey A, Reiser Peter J, Kittleson Judith A, Munro Marcia J, Dryburgh Keith, Macdonald Kristin A, Kittleson Mark D

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is one of the most common causes of sudden cardiac death in young adults and is a familial disease in at least 60% of cases. Causative mutations have been identified in several sarcomeric genes, including the myosin binding protein C (MYBPC3) gene. Although numerous causative mutations have been identified, the pathogenetic process is still poorly understood. A large animal model...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Disease Models, Animal

Share to Muscle Proteins

Share to Point Mutation

Share to Sarcomeres

Source

Identifiers

PMID: 16236761
DOI: 10.1093/hmg/ddi386

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.PMID 16236761Read ↗

Genetics of feline hypertrophic cardiomyopathy.Semantic proximity Read ↗

Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C.Semantic proximity Read ↗

Genetic Basis of Hypertrophic Cardiomyopathy in CatsSemantic proximity Read ↗

A novel homozygous premature stop mutation in TNNT2 associates with Feline cardiomyopathySemantic proximity Read ↗

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelinesSemantic proximity Read ↗

Genotype-phenotype correlation between the cardiac myosin binding protein C mutation A31P and hypertrophic cardiomyopathy in a cohort of Maine Coon cats: a longitudinal study.Semantic proximity Read ↗

Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease.Semantic proximity Read ↗

Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy.Semantic proximity Read ↗

The Maine Coon Cat Harboring the MYBPC3-A31P Mutation: A Genotype-Stratified Phenotypic Characterization of Hypertrophic CardiomyopathySemantic proximity Read ↗

Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation--the clinical significance of having the mutation.Semantic proximity Read ↗

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