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Article

Intron retention induced by microsatellite expansions as a disease biomarker.

Proceedings of the National Academy of Sciences of the United States of America - 17 Apr 2018

Sznajder Łukasz J, Thomas James D, Carrell Ellie M, Reid Tammy, McFarland Karen N, Cleary John D, Oliveira Ruan, Nutter Curtis A, Bhatt Kirti, Sobczak Krzysztof, Ashizawa Tetsuo, Thornton Charles A, Ranum Laura P W, Swanson Maurice S

Abstract excerpt

Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological-neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29610297
DOI: 10.1073/pnas.1716617115
PMCID: PMC5910826

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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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