Article
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression.
Human genetics - 1 Aug 2025
Foco Luisa, De Bortoli Marzia, Del Greco M Fabiola, Frommelt Laura S, Volani Chiara, Riekschnitz Diana A, Motta Benedetta M, Fuchsberger Christian, Delerue Thomas, Völker Uwe, Huan Tianxiao, Gögele Martin, Winkelmann Juliane, Dörr Marcus, Levy Daniel, Waldenberger Melanie, Teumer Alexander, Pramstaller Peter P, Rossini Alessandra, Pattaro Cristian
Abstract excerpt
Cardiac desmosomes are specialized cell junctions responsible for cardiomyocytes mechanical coupling. Mutation in desmosomal genes cause autosomal dominant and recessive familial arrhythmogenic cardiomyopathy. Motivated by evidence that Mendelian diseases share genetic architecture with common complex traits, we assessed whether common variants in any desmosomal gene were associated with cardiac conduction traits...
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