216 related articles for article (PubMed ID: 18781607)
1. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt D; Runz H; Keitel V; Fischer C; Flechtenmacher C; Wirtenberger M; Weiss KH; Imparato S; Braun A; Hemminki K; Stremmel W; Rüschendorf F; Stiehl A; Kubitz R; Burwinkel B; Schirmacher P; Knisely AS; Zschocke J; Sauer P
Hepatology; 2008 Oct; 48(4):1157-66. PubMed ID: 18781607
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19185004
[TBL] [Abstract][Full Text] [Related]
3. ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D; Crosignani A; Colombo C; Bordo D; Zuin M; Vassallo E; Syrén ML; Coviello DA; Battezzati PM
J Gastroenterol; 2016 Mar; 51(3):271-80. PubMed ID: 26324191
[TBL] [Abstract][Full Text] [Related]
4. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Ziol M; Barbu V; Rosmorduc O; Frassati-Biaggi A; Barget N; Hermelin B; Scheffer GL; Bennouna S; Trinchet JC; Beaugrand M; Ganne-Carrié N
Gastroenterology; 2008 Jul; 135(1):131-41. PubMed ID: 18482588
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 20422496
[TBL] [Abstract][Full Text] [Related]
6. ABCB4 disease: Many faces of one gene deficiency.
Sticova E; Jirsa M
Ann Hepatol; 2020; 19(2):126-133. PubMed ID: 31759867
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19584064
[TBL] [Abstract][Full Text] [Related]
8. 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; 506(1):141-5. PubMed ID: 22766396
[TBL] [Abstract][Full Text] [Related]
9. Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
Kubitz R; Bode J; Erhardt A; Graf D; Kircheis G; Müller-Stöver I; Reinehr R; Reuter S; Richter J; Sagir A; Schmitt M; Donner M
Z Gastroenterol; 2011 Jun; 49(6):728-36. PubMed ID: 21638239
[TBL] [Abstract][Full Text] [Related]
10. Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R; Hierro L; Andueza S; Muñoz-Bartolo G; López C; Díaz C; Jara P; Álvarez L
Liver Int; 2016 Feb; 36(2):258-67. PubMed ID: 26153658
[TBL] [Abstract][Full Text] [Related]
11. Low phospholipid-associated cholestasis and cholelithiasis.
Erlinger S
Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S36-40. PubMed ID: 23141892
[TBL] [Abstract][Full Text] [Related]
12. ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Sinha A; Bhuva M; Grant C; Gimson AE; Thompson E; Duckworth A; Davies SE; Aithal G; Griffiths WJ
Dig Dis Sci; 2022 Dec; 67(12):5551-5561. PubMed ID: 35288833
[TBL] [Abstract][Full Text] [Related]
13. Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Gautherot J; Delautier D; Maubert MA; Aït-Slimane T; Bolbach G; Delaunay JL; Durand-Schneider AM; Firrincieli D; Barbu V; Chignard N; Housset C; Maurice M; Falguières T
Hepatology; 2014 Aug; 60(2):610-21. PubMed ID: 24723470
[TBL] [Abstract][Full Text] [Related]
14. Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Gordo-Gilart R; Andueza S; Hierro L; Martínez-Fernández P; D'Agostino D; Jara P; Alvarez L
Gut; 2015 Jan; 64(1):147-55. PubMed ID: 24594635
[TBL] [Abstract][Full Text] [Related]
15. ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC; Lammert F
Semin Liver Dis; 2018 Nov; 38(4):299-307. PubMed ID: 30357767
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19261551
[TBL] [Abstract][Full Text] [Related]
17. A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.
Qiao F; Ren F; Lu W; Yang H; Mo G; Wang S; Liu L; Xu X
BMC Med Genomics; 2023 Jul; 16(1):171. PubMed ID: 37488596
[TBL] [Abstract][Full Text] [Related]
18. The hepatic phosphatidylcholine transporter ABCB4 as modulator of glucose homeostasis.
Hochrath K; Krawczyk M; Goebel R; Langhirt M; Rathkolb B; Micklich K; Rozman J; Horsch M; Beckers J; Klingenspor M; Fuchs H; Gailus-Durner V; Wolf E; Acalovschi M; Volmer DA; Hrabě de Angelis M; Lammert F
FASEB J; 2012 Dec; 26(12):5081-91. PubMed ID: 22982378
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 17726488
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 12671900
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
