Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve.
Steven G CarlisleHasan AlbashaHector MichelenaAnna Sabate-RotesLisa BiancoJulie De BackerLaura Muiño MosqueraAnji T YetmanMalenka M BissellMaria Grazia AndreassiIlenia FoffaDawn S HuiAnthony CaffarelliYuli Y KimDong-Chuan GuoRodolfo CitroMargot De MarcoJustin T TretterKim L McBridenull nullnull nullDianna M MilewiczSimon C BodySiddharth K PrakashPublished in: medRxiv : the preprint server for health sciences (2023)
, a gene on chromosome 21 that has not previously been associated with the development of BAV. These results may lead to improved risk stratification and targeted therapies for BAV patients.
Keyphrases
- copy number
- aortic valve
- mitochondrial dna
- genome wide
- aortic stenosis
- ejection fraction
- transcatheter aortic valve replacement
- end stage renal disease
- dna methylation
- aortic valve replacement
- transcatheter aortic valve implantation
- newly diagnosed
- chronic kidney disease
- prognostic factors
- heart failure
- peritoneal dialysis
- coronary artery disease
- left ventricular
- patient reported outcomes
- transcription factor