Nature Communications (Feb 2016)
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
- 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
Affiliations
- Natalia Gomez-Ospina
- Divisions of Medical Genetics, Lucile Packard Children’s Hospital, Stanford University Medical Center
- Carol J. Potter
- Section of Human and Molecular Genetics, Nationwide Children's Hospital
- Rui Xiao
- Department of Molecular and Cellular Biology, Baylor College of Medicine
- Kandamurugu Manickam
- Section of Human and Molecular Genetics, Nationwide Children's Hospital
- Mi-Sun Kim
- Department of Molecular and Cellular Biology, Baylor College of Medicine
- Kang Ho Kim
- Department of Molecular and Cellular Biology, Baylor College of Medicine
- Benjamin L. Shneider
- Department of Pediatrics, Baylor College of Medicine
- Jennifer L. Picarsic
- Department of Pathology, University of Pittsburgh School of Medicine
- Theodora A. Jacobson
- Section of Human and Molecular Genetics, Nationwide Children's Hospital
- Jing Zhang
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Weimin He
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Pengfei Liu
- Department of Molecular and Human Genetics, Baylor College of Medicine
- A. S. Knisely
- Institute of Liver Studies, King’s College Hospital
- Milton J. Finegold
- Department of Pathology and Immunology, Baylor College of Medicine
- Donna M. Muzny
- Human Genome Sequencing Center, Baylor College of Medicine
- Eric Boerwinkle
- Human Genome Sequencing Center, Baylor College of Medicine
- James R. Lupski
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Sharon E. Plon
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Richard A. Gibbs
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Christine M. Eng
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Yaping Yang
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Gabriel C. Washington
- Pediatric Stem Cell Transplantation, Stanford University Medical Center
- Matthew H. Porteus
- Pediatric Stem Cell Transplantation, Stanford University Medical Center
- William E. Berquist
- Pediatric Gastroenterology, Stanford University Medical Center
- Neeraja Kambham
- Anatomic and Clinical Pathology, Stanford University Medical Center
- Ravinder J. Singh
- Immunochemistry Core Laboratory, College of Medicine, Mayo Clinic
- Fan Xia
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Gregory M. Enns
- Divisions of Medical Genetics, Lucile Packard Children’s Hospital, Stanford University Medical Center
- David D. Moore
- Department of Molecular and Cellular Biology, Baylor College of Medicine
- DOI
- https://doi.org/10.1038/ncomms10713
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 8
Abstract
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.
