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Article

Cardiomyocyte hyperplasia and immaturity but not hypertrophy are characteristic features of patients with RASopathies.

Journal of molecular and cellular cardiology - 1 May 2023

Drenckhahn Jörg-Detlef, Nicin Luka, Akhouaji Sara, Krück Svenja, Blank Anna Eva, Schänzer Anne, Yörüker Uygar, Jux Christian, Tombor Lukas, Abplanalp Wesley, John David, Zeiher Andreas M, Dimmeler Stefanie, Rupp Stefan

Abstract excerpt

AIMS: RASopathies are caused by mutations in genes that alter the MAP kinase pathway and are marked by several malformations with cardiovascular disorders as the predominant cause of mortality. Mechanistic insights in the underlying pathogenesis in affected cardiac tissue are rare. The aim of the study was to assess the impact of RASopathy causing mutations on the human heart. METHODS AND RESULTS: Using single...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36948385
DOI: 10.1016/j.yjmcc.2023.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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