Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-02-18

AUTHORS

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

ABSTRACT

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 acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein and undetectable liver bile salt export pump (ABCB11) expression. Our findings demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection. More... »

PAGES

10713

Journal

TITLE

Nature Communications

ISSUE

1

VOLUME

7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms10713

DOI

http://dx.doi.org/10.1038/ncomms10713

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008349859

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26888176


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