New MYO5B gene mutation detected in man with PFIC type 10
A combination of two mutations in the MYO5B gene, including one that has not been previously reported, was the likely cause of a mild form…
Cholestasis
ICP linked to lower levels of vitamin K in small study
Women with intrahepatic cholestasis of pregnancy (ICP), the most common liver complication during pregnancy, are significantly more likely to have reduced blood levels of…
In one year of writing about PFIC, I’ve been keeping secrets
It’s been over a year since I started writing this column about my family’s experience with progressive familial intrahepatic cholestasis (PFIC), and it’s been…
New mutation likely cause of PFIC type 1 in siblings with liver failure
A novel mutation in the ATP8B1 gene was the likely cause of progressive familial intrahepatic cholestasis (PFIC) type 1 in two siblings in India…
ACER3 enzyme may be therapeutic target in cholestasis: Lab study
ACER3, an enzyme involved in the metabolism of fat-like signaling molecules known as ceramides, plays a detrimental role in cholestasis-related liver damage — and,…
Cilnidipine, bexarotene ease liver damage in rat model of cholestasis
Preventive treatment with cilnidipine and bexarotene significantly reduced markers of inflammation, liver damage, and oxidative stress, a type of cellular damage, in a rat model…
RTY-694 shows promise in models of liver, bile duct diseases PFIC, PSC
An experimental oral therapy by Rectify Pharmaceuticals called RTY-694 reduced markers of slowed bile flow and inflammation in a mouse model of progressive…
Air pollution may raise intrahepatic cholestasis of pregnancy risk
Exposure to high levels of fine particulate matter, or PM2.5, the most commonly studied air pollutant, and reduced time in the sunlight in the three…
New PFIC3-causing mutations identified in 3 children in China
A study of three children with progressive familial intrahepatic cholestasis type 3 (PFIC3) in China revealed that different disease-causing mutations in the ABCB4 gene,…
AI model may predict cholestasis-related cognitive impairment risk
An artificial intelligence (AI) model can accurately discriminate between cholestasis patients with and without moderate to severe disease-associated cognitive impairment based on 13 possible…
