Genetics, Gene Therapy & Genetic Disease
The arginine methyltransferase PRMT5 promotes mucosal defense in the intestineArginine methyltransferase PRMT5 promotes select colonic goblet cell-associated gene programs and facilitates host defense against enteric pathogens.
Alternative oxidase causes cell type- and tissue-specific responses in mutator miceExpression of the alternative oxidase in mtDNA mutator mice improves their blood phenotype but enhances inflammatory and stress responses in skeletal muscle.
T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variantsFluorescently activated cell-sorting coupled with high-throughput single cell mtDNA sequencing reveals enhanced negative selection of pathogenic mtDNA variants in T cells, with more mature, memory cells exhibiting lower mutation levels than their naïve counterparts.
De novo network analysis reveals autism causal genes and developmental links to co-occurring traitsIn this study, we provide a biological argument for looking at an autistic individual’s phenotype as being related to their combined genetic risk for different clusters of traits.
Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutationsThis study shows that skewed X-inactivation modulates the occurrence of Retinitis Pigmentosa in female carriers of RPGR mutations. The findings have implications towards therapeutic interventions.
RA-induced prominence-specific response resulted in distinctive regulation of Wnt and osteogenesisEarly exposure of RA induced altered expressions of Wnt-related genes and subsequent osteogenic differentiation in embryonic mouse craniofacial prominences in a spatiotemporal-dependent manner.
Differential roles of FOXC2 in the trabecular meshwork and Schlemm’s canal in glaucomatous pathologyFOXC2 is required in the Schlemm’s canal endothelium and neural crest-derived trabecular meshwork cells for the morphogenesis and maintenance of Schlemm’s canal.
Hypoxia controls expression of kidney-pathogenic MUC1 variantsHypoxia or pharmacological treatment with novel HIF stabilizers promotes the expression of MUC1 genetic variants that predispose to the development of chronic kidney disease in renal tubular cells.
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsyThis study demonstrates biallelic intragenic structural variations and a homozygous single-nucleotide variant in FGF12 cause epilepsy as a new loss-of-function mechanism of FGF12 in humans.
HR repair pathway plays a crucial role in maintaining neural stem cell fate under irradiation stressMRN complex and the HR repair pathway play a crucial role in the maintenance of neural stem cell fate under irradiation stress.