Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models

Research advances over the past 30 years have confirmed a critical role for genetics in the etiology of dilated cardiomyopathies (DCMs). However, full knowledge of the genetic architecture of DCM remains incomplete. We identified candidate DCM causal gene, C10orf71, in a large family with 8 patients...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	The Journal of clinical investigation 2024-06, Vol.134 (12), p.1-17
Hauptverfasser:	Li, Yang, Ma, Ke, Dong, Zhujun, Gao, Shijuan, Zhang, Jing, Huang, Shan, Yang, Jie, Fang, Guangming, Li, Yujie, Li, Xiaowei, Welch, Carrie, Griffin, Emily L, Ramaswamy, Prema, Valivullah, Zaheer, Liu, Xiuying, Dong, Jianzeng, Wang, Dao Wen, Du, Jie, Chung, Wendy K, Li, Yulin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animal models Animals Cardiomyocytes Cardiomyopathy Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - metabolism Cardiomyopathy, Dilated - pathology Cardiovascular research Causes of Dilated cardiomyopathy Disease Models, Animal Embryogenesis Embryonic development Families & family life Female Frameshift Mutation Genes Genetic aspects Genetic variation Genotype & phenotype Health aspects Heart Heart diseases Humans Male Mice Mice, Knockout Morphogenesis Muscle contraction Mutation Myocardial Contraction - genetics Myocytes, Cardiac - metabolism Myocytes, Cardiac - pathology Myosin Organoids Organoids - metabolism Organoids - pathology Organs, Culture of Patients Pluripotency Proteins Stem cells Structure-function relationships Therapeutic targets Whole genome sequencing
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!