PubMed

Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Rosmorduc O, Poupon R.

Orphanet J Rare Dis. 2007 Jun 11;2:29. Review.PMID: 17562004 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

ABCB4 gene mutation-associated cholelithiasis in adults.

Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R.

Gastroenterology. 2003 Aug;125(2):452-9.PMID: 12891548 [PubMed - indexed for MEDLINE]Related citations

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

Rosmorduc O, Hermelin B, Poupon R.

Gastroenterology. 2001 May;120(6):1459-67.PMID: 11313316 [PubMed - indexed for MEDLINE]Related citations

[Right upper quadrant abdominal pain and fever. Genetic phospholipid deficiency]

Erlinger S.

Gastroenterol Clin Biol. 2009 Oct;33(10-11 Suppl):F50-5. Epub 2009 Sep 12. French. PMID: 19748751 [PubMed - indexed for MEDLINE]Related citations

Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.

Fein F, Hermelin B, Becker MC, Felix S, Carbonnel F.

Gastroenterol Clin Biol. 2007 Jan;31(1):106-9.PMID: 17273143 [PubMed - indexed for MEDLINE]Related citations

Liver diseases related to MDR3 (ABCB4) gene deficiency.

Gonzales E, Davit-Spraul A, Baussan C, Buffet C, Maurice M, Jacquemin E.

Front Biosci. 2009 Jan 1;14:4242-56. Review.PMID: 19273348 [PubMed - indexed for MEDLINE]Related citations

Spontaneous cholecysto- and hepatolithiasis in Mdr2-/- mice: a model for low phospholipid-associated cholelithiasis.

Lammert F, Wang DQ, Hillebrandt S, Geier A, Fickert P, Trauner M, Matern S, Paigen B, Carey MC.

Hepatology. 2004 Jan;39(1):117-28.PMID: 14752830 [PubMed - indexed for MEDLINE]Related citations

The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults.

Poupon R, Arrive L, Rosmorduc O.

Gastroenterol Clin Biol. 2010 August - September;34(6-7):380-387. Epub 2010 May 27.PMID: 20537830 [PubMed - as supplied by publisher]Related citations

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, Scheffer GL, Paul M, Burdelski M, Bosma PJ, Bernard O, Hadchouel M, Elferink RP.

Gastroenterology. 2001 May;120(6):1448-58.PMID: 11313315 [PubMed - indexed for MEDLINE]Related citations

The Multiple Facets of ABCB4 (MDR3) Deficiency.

Sundaram SS, Sokol RJ.

Curr Treat Options Gastroenterol. 2007 Dec;10(6):495-503.PMID: 18221610 [PubMed - as supplied by publisher]Related citations

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E.

Semin Liver Dis. 2010 May;30(2):134-46. Epub 2010 Apr 26.PMID: 20422496 [PubMed - in process]Related citations

Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).

Oude Elferink RP, Paulusma CC.

Pflugers Arch. 2007 Feb;453(5):601-10. Epub 2006 Apr 19. Review.PMID: 16622704 [PubMed - indexed for MEDLINE]Related citations

[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]

Muehlenberg K, Wiedmann K, Keppeler H, Sauerbruch T, Lammert F.

Z Gastroenterol. 2008 Jan;46(1):48-53. German. PMID: 18188816 [PubMed - indexed for MEDLINE]Related citations

A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.

Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, Sola J, Herraiz M, Medina JF, Prieto J.

Gastroenterology. 2003 Apr;124(4):1037-42.PMID: 12671900 [PubMed - indexed for MEDLINE]Related citations

Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.

Wasmuth HE, Glantz A, Keppeler H, Simon E, Bartz C, Rath W, Mattsson LA, Marschall HU, Lammert F.

Gut. 2007 Feb;56(2):265-70. Epub 2006 Aug 4.PMID: 16891356 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.

Schneider G, Paus TC, Kullak-Ublick GA, Meier PJ, Wienker TF, Lang T, van de Vondel P, Sauerbruch T, Reichel C.

Hepatology. 2007 Jan;45(1):150-8.PMID: 17187437 [PubMed - indexed for MEDLINE]Related citations

A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.

Delaunay JL, Durand-Schneider AM, Delautier D, Rada A, Gautherot J, Jacquemin E, Aït-Slimane T, Maurice M.

Hepatology. 2009 Apr;49(4):1218-27.PMID: 19185004 [PubMed - indexed for MEDLINE]Related citations

Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?

Chen HL, Chang PS, Hsu HC, Lee JH, Ni YH, Hsu HY, Jeng YM, Chang MH.

Pediatr Res. 2001 Jul;50(1):50-5.PMID: 11420418 [PubMed - indexed for MEDLINE]Related citations

MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes.

Trauner M, Fickert P, Wagner M.

Semin Liver Dis. 2007 Feb;27(1):77-98. Review.PMID: 17295178 [PubMed - indexed for MEDLINE]Related citations

Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.

Colombo C, Okolicsanyi L, Strazzabosco M.

Dig Liver Dis. 2000 Mar;32(2):152-9. Review.PMID: 10975791 [PubMed - indexed for MEDLINE]Related citations