Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neonatal cholestasis from two unrelated families.
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Nature Portfolio
2016
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oai:doaj.org-article:e73281ebd5d34ed788509187b61992e02021-12-02T14:39:52ZMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis10.1038/ncomms107132041-1723https://doaj.org/article/e73281ebd5d34ed788509187b61992e02016-02-01T00:00:00Zhttps://doi.org/10.1038/ncomms10713https://doaj.org/toc/2041-1723Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neonatal cholestasis from two unrelated families.Natalia Gomez-OspinaCarol J. PotterRui XiaoKandamurugu ManickamMi-Sun KimKang Ho KimBenjamin L. ShneiderJennifer L. PicarsicTheodora A. JacobsonJing ZhangWeimin HePengfei LiuA. S. KniselyMilton J. FinegoldDonna M. MuznyEric BoerwinkleJames R. LupskiSharon E. PlonRichard A. GibbsChristine M. EngYaping YangGabriel C. WashingtonMatthew H. PorteusWilliam E. BerquistNeeraja KambhamRavinder J. SinghFan XiaGregory M. EnnsDavid D. MooreNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-8 (2016) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q 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 Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis |
| description |
Neonatal cholestasis is a result of elevated bile acid levels, and is associated with mutations in genes regulating bile acid homeostasis. Here the authors identify mutations in the bile acid sensing farnesoid X receptor in four individuals with neonatal cholestasis from two unrelated families. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Natalia Gomez-Ospina |
| title |
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis |
| title_short |
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis |
| title_full |
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis |
| title_fullStr |
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis |
| title_full_unstemmed |
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis |
| title_sort |
mutations in the nuclear bile acid receptor fxr cause progressive familial intrahepatic cholestasis |
| publisher |
Nature Portfolio |
| publishDate |
2016 |
| url |
https://doaj.org/article/e73281ebd5d34ed788509187b61992e0 |
| work_keys_str_mv |
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