Gennadiy Tenin

GPC6 Lipid Shielding Sustains WNT5A Gradients to Prevent a RASopathy-like Developmental State

The paper shows that GPC6 shields WNT5A lipid to maintain gradients, and its disruption causes a RASopathy-like developmental state by promoting premature signaling.

The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

Glypican-6 deficiency causes dose-dependent conotruncal congenital heart malformations through abnormal remodelling of the endocardial cushions

The paper identifies GPC6 as a causative gene for TOF through GWAS and mouse models, showing dose-dependent cardiac malformations.

STX18-AS1 is a Long Noncoding RNA predisposing to Atrial Septal Defect via downregulation of NKX2-5 in differentiating cardiomyocytes

The paper identifies STX18-AS1 as a lncRNA that predisposes to ASD by downregulating NKX2-5 in cardiomyocyte differentiation.

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ~500,000 UK Biobank individuals

This study examines the association of a 15q11.2 BP1-BP2 deletion with neuropsychiatric, cognitive, and cardiovascular phenotypes in ~500,000 UK Biobank individuals, finding increased prevalence in disease cases and reduced cognitive function in carriers.