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

Relevance of truncating titin mutations in dilated cardiomyopathy.

Clinical genetics - 1 Jul 2016

Akinrinade O, Alastalo T-P, Koskenvuo J W

Abstract excerpt

Dilated cardiomyopathy (DCM), a genetically heterogeneous cardiac disease characterized by left ventricular dilatation and systolic dysfunction, is caused majorly by truncations of titin (TTN), especially in A-band region. Clinical interpretation of TTN-truncating variants (TTNtv) has been challenged by the existing inaccurate variant assessment strategies and uncertainty in the true frequency of TTNtv across the...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Dilated
Share to Cohort Studies
Share to Connectin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Gene Expression Regulation

Share to RNA, Messenger

Share to Transcription, Genetic

Source

Identifiers

PMID: 26777568
DOI: 10.1111/cge.12741

Genes

TTN

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

Relevance of truncating titin mutations in dilated cardiomyopathy.PMID 26777568Read ↗

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated CardiomyopathySemantic proximity Read ↗

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Semantic proximity Read ↗

Role of titin in cardiomyopathy: from DNA variants to patient stratification.Semantic proximity Read ↗

Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathySemantic proximity Read ↗

Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene RegionsSemantic proximity Read ↗

Truncations of titin causing dilated cardiomyopathy.Semantic proximity Read ↗

Prevalence of Titin Truncating Variants in General Population.Semantic proximity Read ↗

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Semantic proximity Read ↗

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of CardiomyopathiesSemantic proximity Read ↗

Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.Semantic proximity Read ↗

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.Semantic proximity Read ↗

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating VariantsSemantic proximity Read ↗

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