Displaying 421 - 440 of 1039 results
BASIC

The Metabolic Enzyme PKM2 Enters the Nucleus and Plays a Gene Regulatory Role

The metabolic enzyme PKM2 accumulates in the nucleus in various cancer cells. In this study, researchers found that PKM2 binds to structures called G-quadruplexes (rG4) forming on precursor mRNAs. The balance of folded and unfolded rG4s controls the transcriptional output of rG4-containing RNAs (rG4ome). The rG4ome encodes components related to epithelial-to-mesenchymal transition (e.g., a process that allows tumors to grow and spread) and higher rG4 levels, which are associated with poorer patient survival outcomes in different cancer types. Further, removing PKM2 from the nucleus reduces tumor growth and metastasis.
Genetics and Genomics Molecular Biology and Biochemistry RNA Biology
BASIC

Mutations in a Gene Related to Hearing Loss Could Lead to Defective Merkel Cell Touch Sensors in the Skin

Homeobox domain transcription factors are proteins that have a region with a specific structure that binds a specific DNA sequence within a gene. These transcriptions factors play a known role in development. More specifically, the POU family of homeobox domain transcription factors play important roles in the development of multiple tissue types including sensory tissues. Mutations in the POU4F3 gene are known to cause a dominant form of hereditary hearing loss in humans. Researchers used whole transcriptome profiling to discover that POU4F3 and POU4F1 are selectively expressed in Merkel cells (MCs), which are specialized touch sensors, from both neonatal and adult mouse skin. Using genetically engineered knockout mice, they determined that POU4F3 is critical for MC development, while POU4F1 is expressed in MCs but not necessary for their development.
Skin Biology

Skin Features Provide an Early Clue to the Diagnosis of VEXAS Syndrome

https://www.niams.nih.gov/newsroom/spotlight-on-research/skin-features-provide-early-clue-diagnosis-vexas-syndrome

Scientists at NIAMS and other institutions have shed light on patterns of skin characteristics seen in patients with VEXAS ( vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, an often-deadly inflammatory condition caused by mutations in the UBA1 gene of blood cells. In addition, distinct skin symptoms were linked to specific gene variants in people with the disease. The findings were recently published in JAMA Dermatology. VEXAS syndrome was first reported by a team of NIH researchers in 2020. People with the disorder often have a wide range of inflammatory symptoms that affect multiple organs. The mutations in VEXAS syndrome happen

The NIAMS Training Program (T32)

https://www.niams.nih.gov/grants-funding/research-training-and-career-development-programs/funding-opportunities/t32_program

Goal of NIAMS Institutional Training Awards NIAMS funds the Ruth L. Kirschstein National Research Service Award (NRSA) Institutional Research Training Grants (T32) (PA-23-048) to enable institutions to support pre-doctoral and postdoctoral research training for individuals in the fields of arthritis and musculoskeletal and skin diseases. The NIAMS T32 program's primary

Typically materials from NIAMS that are more than 5 years old will be archived.