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BASIC

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

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NIAMS IRP
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.

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