Individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs.
By correlating practices and outcomes globally, our DOPPS program identifies best practices and modifiable characteristics that enhance the health and well-being of patients with kidney disease.
Featuring new scientific work with internationally-known speakers, expert panels, early career investigators, and audience participation.
Large-scale proteomics identified SEMA6B, SFRP3, COMMD7, BMX, and VCAM1 as biomarkers highly associated with clinical portal hypertension in children with biliary atresia. The expression of the biomarkers in liver epithelial, endothelial, and immune cells support their potential role in the mechanisms that cause portal hypertension.
Regional variation in glutathione metabolism underlies sensitivity to the biliary toxin biliatresone and may account for the reported association between BA transplant-free survival and glutathione metabolism gene expression.
Our finding of de novo variants in genes linked to evolutionarily conserved stress responses (STIP1 and REV1) suggests that exploration of how genetic susceptibility and environmental exposure may interact to cause BA is warranted.
In studies of liver tissues from infants with cholestasis, we identified a 14-gene expression pattern that associated with transplant-free survival for 2 years.
Discover how Arbor Research illuminated the path toward ensuring personalized, effective, and patient-centered care for Medicare and Medicaid patients in their own homes.
