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Article

Unraveling obscurins in heart disease.

Pflugers Archiv : European journal of physiology - 1 May 2019

Grogan Alyssa, Kontrogianni-Konstantopoulos Aikaterini

Abstract excerpt

Obscurins, expressed from the single OBSCN gene, are a family of giant, modular, cytoskeletal proteins that play key structural and regulatory roles in striated muscles. They were first implicated in the development of heart disease in 2007 when two missense mutations were found in a patient diagnosed with hypertrophic cardiomyopathy (HCM). Since then, the discovery of over a dozen missense, frameshift, and...

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Source

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Identifiers

PMID: 30099631
DOI: 10.1007/s00424-018-2191-3
PMCID: PMC6397709

Genes

OBSCN

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.

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Unraveling obscurins in heart disease.PMID 30099631Read ↗

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Structural analysis of obscurin gene in hypertrophic cardiomyopathy.Semantic proximity Read ↗

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle developmentSemantic proximity Read ↗

Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin.Semantic proximity Read ↗

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