Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

doi:10.1038/ncomms10713

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Article

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

Nature communications - 18 Feb 2016

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

Abstract excerpt

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), a bile...

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PMID: 26888176
DOI: 10.1038/ncomms10713
PMCID: PMC4759630

Genes

ABCB11

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Source receipt: pubmed, retrieved 7 Sept 2026.

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