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

The complexity of titin splicing pattern in human adult skeletal muscles

29 Mar 2018

Abstract excerpt

BACKGROUND: Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metatranscript-only exons thought to be expressed only during fetal development. Although three main classes of isoforms have been described so far, alternative splicing events...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29598826
DOI: 10.1186/s13395-018-0156-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The complexity of titin splicing pattern in human adult skeletal musclesPMID 29598826Read ↗

Titin Diversity—Alternative Splicing Gone WildSemantic proximity Read ↗

A rising titan: TTN review and mutation update.Semantic proximity Read ↗

Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.Semantic proximity Read ↗

[Titin-related muscle disorders: an expanding spectrum].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 ↗

The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?Semantic proximity Read ↗

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.Semantic proximity Read ↗

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Semantic proximity Read ↗

Inferring disease course from differential exon usage in the wide titinopathy spectrum.Semantic proximity Read ↗

Increasing Role of Titin Mutations in Neuromuscular Disorders.Semantic proximity Read ↗

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesSemantic proximity Read ↗

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.Semantic proximity Read ↗

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