Výsledky vyhledávání - "Federico Zabalegui"

Akademický článek

Derivation of two human induced pluripotent stem cell lines carrying a missense mutation in FHL1 (c.377G > A, p.C126Y) linked to familial muscular dystrophy

Autor: Federico Zabalegui, Sheila Lucia Castañeda, Guadalupe Amin, Carolina Belli, Santiago Gabriel Miriuka, Lucía Natalia Moro

Publikováno v: Stem Cell Research, Vol 75, Iss , Pp 103307- (2024)

FHL1 gene locates in the Xq26 region and encodes for four and half LIM domain protein 1. It plays a crucial role in muscle cells and mutations in FHL1 are related to muscular dystrophy (MD). Peripheral blood mononuclear cells (PBMCs) were obtained fr

Externí odkaz: https://doaj.org/article/92fb351e18cf4d7ba322a69486336872

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Akademický článek

Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro modeling

Autor: Guadalupe Amin, Sheila Lucía Castañeda, Federico Zabalegui, Carolina Belli, Catalina Atorrasagasti, Santiago Gabriel Miriuka, Lucía Natalia Moro

Publikováno v: Stem Cell Research, Vol 71, Iss , Pp 103157- (2023)

The arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by the progressive replacement of contractile myocardium by fibro-fatty adipose tissue, that generates ventricular arrhythmias and sudden death in patients. Th

Externí odkaz: https://doaj.org/article/b537ff6daed54ce48efa533f57a21c74

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