Medical Research
- Altered myocardial lipid regulation in junctophilin-2–associated familial cardiomyopathies
Our studies revealed, for the first time, unique alterations in the cardiac lipid composition—including distinct increases in neutral lipids and decreases in polar membrane lipids—in mice with HCM and DCM were caused by distinct JPH2 variants.
- Cholesterol and COVID-19—therapeutic opportunities at the host/virus interface during cell entry
The key to cholesterol-related broad-spectrum antiviral strategies may be to disrupt cholesterol handling in specific cellular organelles.
- Oral bacteria induce IgA autoantibodies against a mesangial protein in IgA nephropathy model mice
This work shows that the CBX3, atypically expressed on the mesangial cell, is a target of IgA auto-Abs in IgA nephropathy model mice and patients. Such IgA auto-Abs are induced by oral bacteria in mice.
- Targeting circulating labile heme as a defense strategy against malaria
Malaria remains a major cause of human morbidity and mortality. Circulating labile heme is an independent risk factor for severe P. falciparum malaria, suggesting that labile heme may be a therapeutic target against severe malaria.
- A dual-targeted drug inhibits cardiac ryanodine receptor Ca2+ leak but activates SERCA2a Ca2+ uptake
Our study identified a first multi-targeted compound (GM1869) inhibiting RyR2-mediated Ca2+ leak together with activating SERCA2a function that may represent a critical breakthrough for treatment of diastolic Ca2+ leak in heart failure.
- Exploring the basis of heterogeneity of cancer aggressiveness among the mutated POLE variants
Mechanisms and consequences of POLE mutations in human cancers.
- Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study
Causal MR study links α-thalassemia-related erythrocyte traits to cardiometabolic risks and diabetes susceptibility in Taiwan.
- Whole genome sequencing of drug resistance Mycobacterium tuberculosis from extra-pulmonary sites
The article summarizes the characteristics of patients with drug resistance extra-pulmonary tuberculosis (DR-EPTB) and gene mutations of drug resistant Mycobacterium tuberculosis (DR-TB) from the patients with EPTB in a municipality of southwest China.
- SF3B1 mutation–mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia
Understanding the pathogenic mechanisms of SF3B1 mutation can help unravel their contribution in patients’ worse prognosis. The cytotoxic effects and delayed leukemic infiltration induced by H3B-8800 support the potential use of SF3B1 inhibitors as a novel therapy in CLL.
- Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations
This 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.