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

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.

Journal of the American College of Cardiology - 21 Jul 2009

Arimura Takuro, Bos J Martijn, Sato Akinori, Kubo Toru, Okamoto Hiroshi, Nishi Hirofumi, Harada Haruhito, Koga Yoshinori, Moulik Mousumi, Doi Yoshinori L, Towbin Jeffrey A, Ackerman Michael J, Kimura Akinori

Abstract excerpt

OBJECTIVES: The purpose of this study was to explore a novel disease gene for hypertrophic cardiomyopathy (HCM) and to evaluate functional alterations caused by mutations. BACKGROUND: Mutations in genes encoding myofilaments or Z-disc proteins of the cardiac sarcomere cause HCM, but the disease-causing mutations can be found in one-half of the patients, indicating that novel HCM-susceptibility genes await...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic

Share to Muscle Proteins

Share to Mutation, Missense

Share to Nuclear Proteins

Share to Repressor Proteins

Source

Identifiers

PMID: 19608031
DOI: 10.1016/j.jacc.2008.12.082

Genes

TTN

Variants

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

Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.PMID 19608031Read ↗

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.Semantic proximity Read ↗

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathySemantic proximity Read ↗

Ankyrin Repeat Domain 1 Protein: A Functionally Pleiotropic Protein with Cardiac Biomarker PotentialSemantic proximity Read ↗

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.Semantic proximity Read ↗

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.Semantic proximity Read ↗

The enigmatic role of the ankyrin repeat domain 1 gene in heart development and diseaseSemantic proximity Read ↗

Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patientsSemantic proximity Read ↗

Muscle ankyrin repeat proteins: their role in striated muscle function in health and diseaseSemantic proximity Read ↗

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.Semantic proximity Read ↗

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.Semantic proximity Read ↗

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cardiac ankyrin repeat protein, a negative regulator of cardiac gene expression, is augmented in human heart failureSemantic proximity Read ↗

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