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

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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Bibliographic Details
Main Authors: Katja Birker, Shuchao Ge, Natalie J Kirkland, Jeanne L Theis, James Marchant, Zachary C Fogarty, Maria A Missinato, Sreehari Kalvakuri, Paul Grossfeld, Adam J Engler, Karen Ocorr, Timothy J Nelson, Alexandre R Colas, Timothy M Olson, Georg Vogler, Rolf Bodmer
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-07-01
Series:eLife
Subjects:
MICOS
CHCHD3/6
HLHS
Drosophila
genetics
CHD
Online Access:https://elifesciences.org/articles/83385

Internet

https://elifesciences.org/articles/83385

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