NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations

Clinics and Research in Hepatology and Gastroenterology

Volumn 36, Issue 6, 2012, Pages 569-573

  Davit Spraul, Anne ^a   Gonzales, Emmanuel ^a,b   Jacquemin, Emmanuel ^a,b  

^a BICÊTRE HOSPITAL   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; FARNESOID X RECEPTOR;

ABCB11 GENE; ABCB4 GENE; ADULT; ARTICLE; ATP8B1 GENE; CHILD; CHOLESTASIS; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG INDUCED CHOLESTASIS; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; INTRAHEPATIC CHOLESTASIS OF PREGNANCY; NR1H4 GENE; NUCLEOTIDE SEQUENCE; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS;

ADENOSINE TRIPHOSPHATASES; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTASIS; CHOLESTASIS, INTRAHEPATIC; FEMALE; HUMANS; MUTATION; P-GLYCOPROTEINS; PREGNANCY; PREGNANCY COMPLICATIONS; RECEPTORS, CYTOPLASMIC AND NUCLEAR;

EID: 84870388848     PISSN: 22107401     EISSN: 2210741X     Source Type: Journal    
DOI: 10.1016/j.clinre.2012.08.008     Document Type: Article

References (16)

1. Davit-Spraul A., Gonzales E., Baussan C., et al. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009, 4:1.
2. Wagner M., Zollner G., Trauner M. New molecular insights into the mechanisms of cholestasis. J Hepatol 2009, 51:565-580.
3. Davit-Spraul A., Fabre M., Branchereau S., et al. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology 2010, 51:1645-1655.
4. Wagner M., Zollner G., Trauner M. Nuclear receptor regulation of the adaptive response of bile acid transporters in cholestasis. Semin Liver Dis 2010, 30:160-177.
5. Trauner M., Claudel T., Fickert P., et al. Bile acids as regulators of hepatic lipid and glucose metabolism. Dig Dis 2010, 28:220-224.
6. Huang L., Zhao A., Lew J.L., et al. Farnesoid X receptor activates transcription of the phospholipid pump MDR3. J Biol Chem 2003, 278:51085-51090.
7. Alvarez L., Jara P., Sánchez-Sabaté E., et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004, 13:2451-2460.
8. Van Mil S.W., Milona A., Dixon P.H., et al. Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy. Gastroenterology 2007, 133:507-516.
9. Chen X.Q., Wang L.L., Shan Q.W., et al. A novel heterozygous NR1H4 termination codon mutation on idiopathic infantile cholestasis. World J Pediatr 2012, 8:67-71.
10. Schneider G., Paus T.C., Kullak-Ublick G.A., et al. Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology 2007, 45:150-158.
11. Jacquemin E., De Vree J.M., Cresteil D., et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001, 120:1448-1458.
12. Müllenbach R., Bennett A., Tetlow N., Patel N., Hamilton G., Cheng F., et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005, 54:829-834.
13. Marzolini C., Tirona R.G., Gervasini G., Poonkuzhali B., Assem M., Lee W., et al. A common polymorphism in the bile acid receptor farnesoid X receptor is associated with decreased hepatic target gene expression. Mol Endocrinol 2007, 21:1769-1780.
14. Zimmer V., Müllenbach R., Simon E., et al. Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy. Liver Int 2009, 29:1286-1288.
15. Keitel V., Vogt C., Häussinger D., et al. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006, 131:624-629.
16. Carrion A.F., Czul F., Arosemena L.R., et al. Propylthiouracil-induced acute liver failure: role of liver transplantation. Int J Endocrinol 2010, 2010:910636.