Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We performed whole genome sequencing (WGS) on 183 HLHS patient-parent trios to...

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Detalles Bibliográficos
Autores principales: Birker, Katja, Ge, Shuchao, Kirkland, Natalie J, Theis, Jeanne L, Marchant, James, Fogarty, Zachary C, Missinato, Maria A, Kalvakuri, Sreehari, Grossfeld, Paul, Engler, Adam J, Ocorr, Karen, Nelson, Timothy J, Colas, Alexandre R, Olson, Timothy M, Vogler, Georg, Bodmer, Rolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10361721/
https://www.ncbi.nlm.nih.gov/pubmed/37404133
http://dx.doi.org/10.7554/eLife.83385

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