Genetics, Gene Therapy & Genetic Disease
Intrinsic deletion at 10q23.31, including the PTEN gene locus, is aggravated upon CRISPR-Cas9–mediated genome engineering in HAP1 cells mimicking cancer profilesThe unintended 10q23.31 deletion frequency rises in HAP1 cells stressed during CRISPR-Cas9 engineering, leading to aberrant molecular and cellular changes resembling common cancer patient deletions.
DOCK1 insufficiency disrupts trophoblast function and pregnancy outcomes via DUSP4-ERK pathwayThis study reveals that decreased DOCK1 in placental villi affects trophoblast function via the DUSP4-ERK pathway, providing insights into adverse pregnancy outcomes.
Meta-analysis of dispensable essential genes and their interactions with bypass suppressorsThis work compiles data from several studies on dispensable essential genes in S. cerevisiae to comprehensively characterize these genes and to explore how their interactions with bypass suppressor genes reflect evolution in natural populations.
Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variantsMechanisms and consequences of POLE mutations in human cancers.
Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoidTMEM107 plays a crucial role in early vertebrate eye development and ciliogenesis in the differentiating retina, and its absence leads to eye defects and impaired retinal organoid formation.
SBDSR126T rescues survival of sbds−/− zebrafish in a dose-dependent manner independently of Tp53We created a transgenic line expressing the disease-associated mutation SBDSR126T in the sbds KO zebrafish background. We demonstrated that amount of SBDSR126T is important for development and tp53 pathway activation. Tp53M214K did not rescue neutropenia or survival in the sbds-null zebrafish.
Regulation of alternative splicing and polyadenylation in neuronsNeurons generate numerous cell-specific isoforms of genes that are expressed more broadly. Here, we review mechanisms that generate neural-specific alternative splicing and 3′UTRs and their biological impacts on the nervous system.
Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR studyCausal MR study links α-thalassemia-related erythrocyte traits to cardiometabolic risks and diabetes susceptibility in Taiwan.
Mitochondrial membrane potential acts as a retrograde signal to regulate cell cycle progressionThis study finds that decreases in mitochondrial membrane potential serve as a means of mito-cellular signalling to delay the transition of yeast cells from the G1 to the S phase of the cell cycle.
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.