Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.
CHCHD3/6
CHD
D. melanogaster
Drosophila
HLHS
MICOS
genetics
genomics
human
Journal
eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614
Informations de publication
Date de publication:
05 07 2023
05 07 2023
Historique:
received:
14
09
2022
accepted:
04
07
2023
medline:
24
7
2023
pubmed:
5
7
2023
entrez:
5
7
2023
Statut:
epublish
Résumé
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 identify candidate genes, which were functionally tested in the
Identifiants
pubmed: 37404133
doi: 10.7554/eLife.83385
pii: 83385
pmc: PMC10361721
doi:
pii:
Substances chimiques
Actomyosin
9013-26-7
Adenosine Triphosphate
8L70Q75FXE
CHCHD3 protein, human
0
Mitochondrial Proteins
0
Banques de données
Dryad
['10.5061/dryad.z8w9ghxj1']
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL153645
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL054732
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA030199
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG071464
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL148827
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL149992
Pays : United States
Informations de copyright
© 2023, Birker, Ge, Kirkland et al.
Déclaration de conflit d'intérêts
KB, SG, NK, JT, JM, ZF, MM, SK, PG, AE, KO, TN, AC, TO, GV, RB No competing interests declared
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