NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1 …
A Davit-Spraul, E Gonzales, E Jacquemin - Clinics and research in …, 2012 - Elsevier
Summary Farnesoid X receptor (FXR, NR1H4) controls bile acid homeostasis. NR1H4
variants may predispose to intrahepatic cholestasis of pregnancy (ICP). We report on
NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC)
and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no
disease causing mutation in ATP8B1, ABCB11 and/or ABCB4 were found. No NR1H4
mutation was found in PFIC patients. In one woman with ICP/DIC, a NR1H4 heterozygous …
variants may predispose to intrahepatic cholestasis of pregnancy (ICP). We report on
NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC)
and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no
disease causing mutation in ATP8B1, ABCB11 and/or ABCB4 were found. No NR1H4
mutation was found in PFIC patients. In one woman with ICP/DIC, a NR1H4 heterozygous …