An intronic RNA element modulates Factor VIII exon-16 splicing.

Pathogenic variants in the human Factor VIII (F8) gene cause Hemophilia A (HA). Here, we investigated the impact of 97 HA-causing single-nucleotide variants on the splicing of 11 exons from F8. For the majority of F8 exons, splicing was insensitive to the presence of HA-causing variants.

Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides.

The human ( ) protein is essential for the blood coagulation cascade and specific mutations cause the rare bleeding disorder Hemophilia A (HA). Here, we investigated the impact of HA-causing single-nucleotide mutations on pre-mRNA splicing. We found that 14/97 (∼14.

An N-Cadherin 2 expressing epithelial cell subpopulation predicts response to surgery, chemotherapy and immunotherapy in bladder cancer.

Neoadjuvant chemotherapy (NAC) prior to surgery and immune checkpoint therapy (ICT) have revolutionized bladder cancer management. However, stratification of patients that would benefit most from these modalities remains a major clinical challenge. Here, we combine single nuclei RNA sequencing with spatial transcriptomics and single-cell resolution spatial proteomic analysis of human bladder cancer to identify an epithelial subpopulation with therapeutic response prediction ability.

The Effects of Immersion and Real-World Distractions on Virtual Social Interactions.

This study explores the independent and joint effects of immersion and real-world distractions (a ringing cell phone) on cognitive (i.e., recognition and recall), affective valence, and interpersonal outcomes (i.

A Systematic Review of Social Presence: Definition, Antecedents, and Implications.

Social presence, or the feeling of being there with a "real" person, is a crucial component of interactions that take place in virtual reality. This paper reviews the concept, antecedents, and implications of social presence, with a focus on the literature regarding the predictors of social presence. The article begins by exploring the concept of social presence, distinguishing it from two other dimensions of presence-telepresence and self-presence.

Addisonian pigmentation of the oral mucosa.

Cutaneous pigmentation is a hallmark of Addison disease. When present, the hyperpigmentation generally localizes to sun-exposed surfaces. This case highlights a less well-recognized cutaneous feature that is pathognomonic for the disease: oral mucous membrane hyperpigmentation.