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Results: 1 to 20 of 232

1.

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C.

Hum Mol Genet. 2000 May 1;9(8):1209-17.

PMID:
10767346
[PubMed - indexed for MEDLINE]
Free Article
2.

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]
3.

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.

Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, Zimmermann R, Kenngott S, Beuers U, Reichel C, Kerb R, Penger A, Meier PJ, Kullak-Ublick GA.

Pharmacogenetics. 2004 Feb;14(2):91-102.

PMID:
15077010
[PubMed - indexed for MEDLINE]
4.

A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

Tavian D, Degiorgio D, Roncaglia N, Vergani P, Cameroni I, Colombo R, Coviello DA.

Dig Liver Dis. 2009 Sep;41(9):671-5. doi: 10.1016/j.dld.2008.12.101. Epub 2009 Mar 3.

PMID:
19261551
[PubMed - indexed for MEDLINE]
5.

Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.

Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Montagnani M, Marchesoni D, Variola A, Rosa Rizzotto E, Braghin C, Mazzella G.

Dig Liver Dis. 2008 May;40(5):366-70. Epub 2007 Dec 20.

PMID:
18083082
[PubMed - indexed for MEDLINE]
6.

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]
7.

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M.

Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7.

PMID:
9419367
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.

Bacq Y, Gendrot C, Perrotin F, Lefrou L, Chrétien S, Vie-Buret V, Brechot MC, Andres CR.

J Med Genet. 2009 Oct;46(10):711-5. doi: 10.1136/jmg.2009.067397. Epub 2009 Jul 6.

PMID:
19584064
[PubMed - indexed for MEDLINE]
9.

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]
10.

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA.

Eur J Hum Genet. 2007 Dec;15(12):1230-8. Epub 2007 Aug 29.

PMID:
17726488
[PubMed - indexed for MEDLINE]
Free Article
11.

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]
12.

DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.

Shapiro R, Anikster Y, Yardeni T, Korem S, Hartman K, Shamir R, Broide E, Levine A, Bujanover Y, Bercovich D.

J Hum Genet. 2010 May;55(5):308-13. doi: 10.1038/jhg.2010.28. Epub 2010 Apr 23.

PMID:
20414253
[PubMed - indexed for MEDLINE]
13.

The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3.

Dzagania T, Engelmann G, Häussinger D, Schmitt L, Flechtenmacher C, Rtskhiladze I, Kubitz R.

Gene. 2012 Sep 10;506(1):141-5. doi: 10.1016/j.gene.2012.06.029. Epub 2012 Jul 3.

PMID:
22766396
[PubMed - indexed for MEDLINE]
14.

A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.

Gendrot C, Bacq Y, Brechot MC, Lansac J, Andres C.

J Med Genet. 2003 Mar;40(3):e32. No abstract available.

PMID:
12624161
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

[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. doi: 10.1055/s-2007-963422. German.

PMID:
18188816
[PubMed - indexed for MEDLINE]
16.

Genetic cholestasis, causes and consequences for hepatobiliary transport.

Jansen PL, Sturm E.

Liver Int. 2003 Oct;23(5):315-22. Review.

PMID:
14708891
[PubMed - indexed for MEDLINE]
17.

Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis.

Deleuze JF, Jacquemin E, Dubuisson C, Cresteil D, Dumont M, Erlinger S, Bernard O, Hadchouel M.

Hepatology. 1996 Apr;23(4):904-8.

PMID:
8666348
[PubMed - indexed for MEDLINE]
18.

Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.

Keitel V, Vogt C, Häussinger D, Kubitz R.

Gastroenterology. 2006 Aug;131(2):624-9.

PMID:
16890614
[PubMed - indexed for MEDLINE]
19.

ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.

Müllenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C.

Gut. 2005 Jun;54(6):829-34.

PMID:
15888793
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.

Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Variola A, Tommasi AM, Marchesoni D, Braghin C, Mazzella G.

Aliment Pharmacol Ther. 2006 Jun 1;23(11):1649-53.

PMID:
16696816
[PubMed - indexed for MEDLINE]
Free Article

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