Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1

Human Molecular Genetics

Volumn 13, Issue 20, 2004, Pages 2451-2460

  Alvarez, Luis ^a   Jara, Paloma ^b   Sánchez Sabaté, Elena ^a   Hierro, Loreto ^b   Larrauri, Javier ^a   Díaz, María C ^b   Camarena, Carmen ^b   De la Vega, Angela ^b   Frauca, Esteban ^b   López Collazo, Eduardo ^a   Lapunzina, Pablo ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b HOSPITAL INFANTIL LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; BILE ACID; BILE SALT; CARRIER PROTEIN; FARNESOID X RECEPTOR; ISOPROTEIN; LIPID; MESSENGER RNA; TRANSCRIPTION FACTOR;

ARTICLE; BILE ACID SYNTHESIS; BILE DUCT ATRESIA; CASE REPORT; CHILD; CHOLESTASIS; CONJUGATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DOWN REGULATION; GENE CLUSTER; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HEREDITY; HETEROZYGOSITY; HOMEOSTASIS; HUMAN; HUMAN CELL; LIPID METABOLISM; LIVER DISEASE; LIVER PARENCHYMA; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORGAN DONOR; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; TRANSPORT KINETICS; UNINDEXED SEQUENCE;

ADENOSINE TRIPHOSPHATASES; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; DNA-BINDING PROTEINS; DOWN-REGULATION; EXONS; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMANS; LIVER; MALE; MEMBRANE TRANSPORT PROTEINS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; P-GLYCOPROTEINS; PROTEIN ISOFORMS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TRANSCRIPTION FACTORS;

EID: 19544375394     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh261     Document Type: Article

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