Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR),...

In the early 1980’s, most cases of neonatal cholestasis (often referred to as neonatal hepatitis) remained unexplained. By today, many of these diseases have been characterized in detail. Progressive familial intrahepatic cholestasis (PFIC) is one of these cholestatic entities with early onset, where new techniques in genetics and molecular biology have contributed substantially to our understa...

Background: Nonalcoholic fatty liver disease (NAFLD) is the most common type of chronic worldwide. Left untreated, it can be a risk factor for developing cirrhosis or hepatocellular carcinoma (HCC). Although experts have made many efforts to find underlying mechanisms NAFLD, they remain mystery. Objectives: This study aimed distinguish gene signatures and pathways in human during NAFLD progress...

Postmenopausal women represent a vulnerable population towards endocrine disruptors due to hormonal deficit. We previously demonstrated that chronic exposure of ovariectomized C57Bl6/J mice fed high-fat, high-sucrose diet low-dose mixture chemicals with one dioxin, polychlorobiphenyl, phthalate, and bisphenol A triggered metabolic alterations in the liver but intestine was not explored. Yet, ga...