Researchers at Cincinnati Children’s Hospital Medical Center have developed a new human cell model for VEXAS syndrome, a rare, severe disorder marked by systemic inflammation, bone marrow failure and high mortality. VEXAS (short for vacuoles, E1-enzyme, X-linked, autoinflammatory, somatic) is a recently identified, acquired clonal hematopoietic disease that often co-occurs with myelodysplastic syndrome.
The oxidase, cytochrome c, assembly 1-like (OXA1L) gene plays a key role in inserting and assembling proteins in the inner mitochondrial membrane, and recent studies have linked some variants to mitochondrial encephalopathy. However, the exact disease mechanism and causal link remain unclear.
Multiple myeloma bone disease (MBD) lacks effective biomarkers; recent evidence involves exosomal circRNAs in the progression of cancer, but their roles in the field have not been deeply explored. The aim of this study was to explore the role of component of oligomeric golgi complex 5 (COG5) and shed light on its osteolytic mechanism.
Diabetic kidney disease (DKD) is a chronic complication of type 1 and type 2 diabetes with albuminuria and progressive kidney failure; about 20%-40% of patients with diabetes will develop some type of kidney disease.
Alzheimer’s disease (AD) progression involves microglial activation, and restoring or maintaining microglia homeostasis is a therapeutic approach to fight against AD.
At the ongoing International Society for Stem Cell Research meeting, Chinese researchers reported they demonstrated that SPT6 homolog, histone chaperone and transcription elongation factor (SPT6) promotes epidermal stem/progenitor cells differentiation by facilitating transcriptional elongation, but its role in vivo in skin homeostasis is not well defined.
Pancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers and needs innovative therapeutic solutions. Patients with PDAC have a 5-year survival rate of about 12%. To address this need, researchers have developed a Drosophila PDAC model harboring the genetic alterations in the KRAS, CDKN2A, TP53 and SMAD4 genes (4-hit model), which accounts for the worst and most aggressive PDAC with lower survival rates.
Loss-of-function variants in the ELP1 gene are the most prevalent predisposing genetic factors in childhood medulloblastoma, accounting for about 30% of sonic hedgehog medulloblastoma (SHH-3 subtype).
Pulmonary fibrosis is a potentially deadly lung disease characterized by progressive scarring and impaired lung function, with limited treatment options and a poor prognosis. Previous work found that targeting the activation, but not the production, of latent transforming growth factor 1 (TGF-β1) may offer therapeutic benefit in this condition.
N4-Acetylation of cytidine (ac4C) is an mRNA modification that enhances cellular mRNA stability and translation. Most eukaryotic organisms catalyze ac4C using a homologue of human N-acetyltransferase 10 (NAT10). Recent work has suggested the involvement of alterations in NAT10-mediated ac4C in several diseases, including autoimmune disorders, infections, inflammation and cancer.
