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Article

Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans.

Nucleus (Austin, Tex.) - 2 Jan 2017

Zuela Noam, Dorfman Jehudith, Gruenbaum Yosef

Abstract excerpt

There are numerous heritable diseases associated with mutations in the LMNA gene. Most of these laminopathic diseases, including several muscular dystrophies, are autosomal dominant and have tissue-specific phenotypes. Our previous studies have shown that the globally expressed Emery-Dreifuss muscular dystrophy (EDMD)-linked lamin mutation, L535P, disrupts nuclear mechanical response specifically in muscle nuclei...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27673727
DOI: 10.1080/19491034.2016.1238999
PMCID: PMC5287205

Genes

LMNA

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.

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