Blindness poses a growing global challenge, with approximately 26% of cases attributed to
degenerative retinal diseases. While gene therapy, optogenetic tools, photosensitive …

Background: SFRS1 is a member of the splicing factor protein family. Through a specific
sequence of alteration, SRSF1 can move from the cytoplasm to the nucleus where it can …

Mutations in the ubiquitously expressed pre-mRNA processing factor (PRPF) 31 gene, one
of the most common causes of dominant form of Retinitis Pigmentosa (RP), lead to a retina …

Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration
and impose a considerable economic burden on patients and society, making efforts to cure …

Pre-mRNA processing factors (PRPFs) are vital components of the spliceosome and are
involved in the physiological process necessary for pre-mRNA splicing to mature mRNA. As …

Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal cancer, characterized by late
diagnosis and poor treatment response. Surgery is the only curative approach, only …

Disruptions in core cellular processes elicit stress responses that drive cell-state changes
leading to organismal phenotypes. Perturbations in the splicing machinery cause …

Until recently, efforts in population genetics have been focused primarily on people of
European ancestry. To attenuate this bias, global population studies, such as the 1000 …

Introduction: Childhood hypophosphatemia is a rare condition and may be caused by
malabsorption, malignancies, or genetic factors. Prolonged hypophosphatemia leads to …

Clonal tracking of cells using somatic mutations permits exploration of clonal dynamics in
human disease. Here, we perform whole genome sequencing of 323 haematopoietic …