Novel variants in DNAH9 are present in two infertile patients with severe asthenospermia.

Asthenospermia is a type of sperm that has malformed sperm with movement disorders that lead to male infertility. DNAH9 is a member of the dynein family and a central part of the outer dynein arm of cilia and flagella. DNAH9 gene defects are associated with primary ciliary dyskinesia and ultrastructural abnormalities in ciliary axial ultrastructure.

Disruption of a DNA G-quadruplex causes a gain-of-function variant relevant to developmental disorders.

encodes a glucose transporter protein highly expressed in the brain. Mutations in may lead to neurological diseases and developmental disorders, but its exact role is poorly understood. DNA G-quadruplexes (DNA G4s) are stable structures formed by four guanine bases and play a role in gene regulation and genomic stability.

miR-129-2-3p directly targets SYK gene and associates with the risk of ischaemic stroke in a Chinese population.

Spleen tyrosine kinase (SYK) gene has been identified as novel susceptibility locus for ischaemic stroke (IS) previously. However, regulation of SYK gene remains unknown in IS. In this study, we aimed to identify miRNAs that might be involved in the development of IS by targeting SYK gene.