Researchers from the University of British Columbia presented data from a study that aimed to define the role of nuclear receptor subfamily 1 group H member 3 (NR1H3) in the pathophysiological mechanisms that drive increased risk, severity and progression in multiple sclerosis (MS).
Metabolic-associated fatty liver disease (MAFLD) has emerged as a leading cause of progressive liver disease, even leading to a risk of hepatocellular carcinoma (HCC). Animal models that mimic the key etiological and histological features of the liver in the context of metabolic dysfunction represent the basis of preclinical research in MAFLD. The aim of work from researchers at Guangdong Pharmaceutical University was to develop a diet-induced murine model of MAFLD progressing to fibrosis and HCC.
The pathogenesis of eosinophilic gastroenteritis (EGE), a chronic inflammatory disease characterized by eosinophil infiltration in the gastrointestinal tract, is still not well understood.
Diffuse large B-cell lymphomas (DLBCL) with mutations in B-cell translocation gene 1 (BTG1) present poor outcomes and extensive dissemination. Missense mutations of BTG1 are specific to germinal center-derived B cell lymphomas, which suggests an oncogenic function that depends on the specific cellular context. In a recent study published in Science, researchers from Weill Cornell Medicine and collaborators investigated how BTG1 mutations further contribute to the pathogenesis of these tumors.
Researchers from the University of Antwerp reported the characterization of a novel clinically relevant mouse model of DFNA9 (deafness, autosomal dominant 9), an autosomal dominant inherited disorder characterized by vestibular dysfunction and adult-onset progressive hearing loss caused by different heterozygous mutations in the COCH gene.
Wolfram syndrome is a neurodegenerative disease characterized by neurological symptoms, as well as diabetes, optic atrophy and hearing loss, among others. The WFS1 gene encodes a protein named Wolframin and it accounts for about 99% of cases, 60% of which present with hearing loss. To date, of all animal models of Wolfram syndrome developed carrying a variant or deletion of one exon of Wfs1, none mimics the early-onset hearing loss.
The TMEM43 gene encodes a transmembrane protein that is associated with connexin-linked function in cochlear glia-like supporting cells (GLSs), and mutations in this gene have been recently associated with hearing loss (HL).
While most preclinical research on pediatric cancer is carried out using adult mouse models, there are significant biological differences between children and adults, including age-related differences in the immune system, metabolism and growth factor signaling. In the current study, investigators from the University of Western Australia and Telethon Kids Institute developed a new mouse model of pediatric medulloblastoma, which is the most common childhood brain cancer.
Scientists from the National Institutes of Health and affiliated organizations established a novel mouse model of intraventricular extension of hemorrhage (IVH) for the purpose of measuring motor and cognitive function in acute and chronic stages of intracerebral hemorrhage, which is the most severe stroke subtype.
While immune checkpoint inhibitors have revolutionized oncology, still only 20-30% of patients respond to PD-1/PD-L1 antibody monotherapy. This can be due to a failure of T cells to recognize “cold” tumors (low T-cell infiltrates).
