Publications by authors named "R J Wagener"
Article Synopsis
- Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is a diverse and challenging type of cancer that often has poor outcomes, especially in younger patients lacking the SMARCB1 protein.
- Research indicated that human and mouse PTCL-NOS exhibit similar DNA changes, including the hypermethylation of T-cell genes and the hypomethylation of myeloid development genes, contributing to a complicated tumor ecosystem.
- A study found that histone deacetylase inhibitors (HDACi), like SAHA, can effectively treat PTCL-NOS by modifying the tumor's microenvironment and improving immune function, paving the way for potential combination therapies.
The thalamus is organized into nuclei that have distinct input and output connectivities with the cortex. Whereas first-order (FO) nuclei - also called core nuclei - relay input from sensory organs on the body surface and project to primary cortical sensory areas, higher-order (HO) nuclei - matrix nuclei - instead receive their driver input from the cortex and project to secondary and associative areas within cortico-thalamo-cortical loops. Input-dependent processes have been shown to play a crucial role in the emergence of FO thalamic neuron identity from a ground-state HO neuron identity, yet how this identity emerges during development remains unknown.
View Article and Find Full Text PDFANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.
View Article and Find Full Text PDFArticle Synopsis
- Collagen VI-related dystrophies (COL6-RDs) include a range of conditions such as Ullrich congenital muscular dystrophy (UCMD), which features severe muscle weakness and respiratory issues, and Bethlem muscular dystrophy, which has milder and later-presenting symptoms.
- Some patients with symptoms typical of COL6-RDs were previously undiagnosed until a deep intronic variant in COL6A1 was identified, leading to a severe form of UCMD in a cohort of 44 patients, except for one with a milder phenotype.
- The study suggests that a new pseudoexon skipping therapy could effectively reduce the severity of UCMD symptoms by targeting the abnormal transcripts