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Abnormal Cellular Phenotypes Induced by Three <i>TMPO</i>/LAP2 Variants Identified in Men with Cardiomyopathies

A single missense variant of the <i>TMPO</i>/LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included <i>TMPO</i> in our cardiomyopathy diagnostic gene panel. A screening of ~5000 patients revealed three...

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Main Authors: Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Format: Artigo
Language:Inglês
Published: MDPI AG 2023-01-01
Series:Cells
Subjects:
<i>TMPO</i> gene
LAP2 proteins
nuclear alterations
chromatin-associated proteins
E2F1 regulation
gender
Online Access:https://www.mdpi.com/2073-4409/12/2/337
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