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

Nature Communications

Volumn 7, Issue , 2016, Pages

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

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e KING S COLLEGE HOSPITAL   (United Kingdom)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g Mayo Clinic   (United States)

^h MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; BILE SALT EXPORT PUMP; FARNESOID X RECEPTOR; GAMMA GLUTAMYLTRANSFERASE; ABC TRANSPORTER; ABCB11 PROTEIN, HUMAN; BILE ACID; CELL RECEPTOR; FARNESOID X-ACTIVATED RECEPTOR;

ANATOMY; GENE EXPRESSION; HOMEOSTASIS; HORMONE; METABOLISM; MUTATION;

ALPHA FETOPROTEIN BLOOD LEVEL; ARTICLE; BILE ACID METABOLISM; BLOOD CLOTTING DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; END STAGE LIVER DISEASE; FAMILY; FEMALE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; HUMAN CELL; INFANT; INTRAHEPATIC CHOLESTASIS; MALE; PRESCHOOL CHILD; PROTEIN EXPRESSION; SCHOOL CHILD; GENETICS; METABOLISM; MUTATION; YOUNG ADULT;

ATP-BINDING CASSETTE TRANSPORTERS; BILE ACIDS AND SALTS; CHOLESTASIS, INTRAHEPATIC; FEMALE; HUMANS; MALE; MUTATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; YOUNG ADULT;

EID: 84958581672     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms10713     Document Type: Article

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