RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.

doi:10.1016/j.ijcard.2019.12.002

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Article

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.

International journal of cardiology - 1 Mar 2020

Hall Charlotte L, Gurha Priyatansh, Sabater-Molina Maria, Asimaki Angeliki, Futema Marta, Lovering Ruth C, Suárez Mari Paz, Aguilera Beatriz, Molina Pilar, Zorio Esther, Coarfa Cristian, Robertson Matthew J, Cheedipudi Sirisha M, Ng Keat-Eng, Delaney Paul, Hernández Juan Pedro, Pastor Francisco, Gimeno Juan R, McKenna William J, Marian Ali J, Syrris Petros

Abstract excerpt

Arrhythmogenic cardiomyopathy (ACM) encompasses a group of inherited cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC) whose molecular disease mechanism is associated with dysregulation of the canonical WNT signalling pathway. Recent evidence indicates that ARVC and ACM caused by pathogenic variants in the FLNC gene encoding filamin C, a major cardiac structural protein, may have...

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PMID: 31843279
DOI: 10.1016/j.ijcard.2019.12.002
PMCID: PMC6940594

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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