Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in
DCM
LMOD2
heart maturation
leiomodins
neonatal cardiomyopathy
sarcomere
thin filament
whole-exome sequencing
whole-genome sequencing
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
23 May 2023
23 May 2023
Historique:
received:
17
12
2022
revised:
07
05
2023
accepted:
09
05
2023
medline:
12
6
2023
pubmed:
10
6
2023
entrez:
10
6
2023
Statut:
epublish
Résumé
As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere maturation and heart function. This process is regulated by the actin-binding proteins Leiomodins (LMODs), among which
Identifiants
pubmed: 37296576
pii: cells12111455
doi: 10.3390/cells12111455
pmc: PMC10252268
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL153853
Pays : United States
Organisme : NIH HHS
ID : 1R01 HL153853-01
Pays : United States
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