نتایج جستجو برای: abcb11

تعداد نتایج: 428  

2016
Natalia Gomez-Ospina Carol J. Potter Rui Xiao Kandamurugu Manickam Mi-Sun Kim Kang Ho Kim Benjamin L. Shneider Jennifer L. Picarsic Theodora A. Jacobson Jing Zhang Weimin He Pengfei Liu A. S. Knisely Milton J. Finegold Donna M. Muzny Eric Boerwinkle James R. Lupski Sharon E. Plon Richard A. Gibbs Christine M. Eng Yaping Yang Gabriel C. Washington Matthew H. Porteus William E. Berquist Neeraja Kambham Ravinder J. Singh Fan Xia Gregory M. Enns David D. Moore

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),...

2009
Henrik Arnell

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...

Journal: :Hepatitis Monthly 2022

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...

Journal: :International Journal of Environmental Research and Public Health 2021

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...

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