195 related articles for article (PubMed ID: 26474921)
1. A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL; Durand-Schneider AM; Dossier C; Falguières T; Gautherot J; Davit-Spraul A; Aït-Slimane T; Housset C; Jacquemin E; Maurice M
Hepatology; 2016 May; 63(5):1620-31. PubMed ID: 26474921
[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. Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4.
Gautherot J; Durand-Schneider AM; Delautier D; Delaunay JL; Rada A; Gabillet J; Housset C; Maurice M; Aït-Slimane T
J Biol Chem; 2012 Feb; 287(7):5070-8. PubMed ID: 22184139
[TBL] [Abstract][Full Text] [Related]
4. Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Park HJ; Kim TH; Kim SW; Noh SH; Cho KJ; Choi C; Kwon EY; Choi YJ; Gee HY; Choi JH
Sci Rep; 2016 Jun; 6():26872. PubMed ID: 27256251
[TBL] [Abstract][Full Text] [Related]
5. Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Delaunay JL; Bruneau A; Hoffmann B; Durand-Schneider AM; Barbu V; Jacquemin E; Maurice M; Housset C; Callebaut I; Aït-Slimane T
Hepatology; 2017 Feb; 65(2):560-570. PubMed ID: 28012258
[TBL] [Abstract][Full Text] [Related]
6. Evaluation of a Novel Missense Mutation in
Saleem K; Cui Q; Zaib T; Zhu S; Qin Q; Wang Y; Dam J; Ji W; Liu P; Jia X; Wu J; Bai J; Fu S; Sun W
Dis Markers; 2020; 2020():6292818. PubMed ID: 32626542
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Ben Saad A; Vauthier V; Tóth Á; Janaszkiewicz A; Durand-Schneider AM; Bruneau A; Delaunay JL; Lapalus M; Mareux E; Garcin I; Gonzales E; Housset C; Aït-Slimane T; Jacquemin E; Di Meo F; Falguières T
Liver Int; 2021 Jun; 41(6):1344-1357. PubMed ID: 33650203
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16891356
[TBL] [Abstract][Full Text] [Related]
11. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL; van Mil SW; Stapelbroek JM; Klomp LW; van de Graaf SF; Houwen RH
Best Pract Res Clin Gastroenterol; 2010 Oct; 24(5):541-53. PubMed ID: 20955958
[TBL] [Abstract][Full Text] [Related]
12. NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
Davit-Spraul A; Gonzales E; Jacquemin E
Clin Res Hepatol Gastroenterol; 2012 Dec; 36(6):569-73. PubMed ID: 23142591
[TBL] [Abstract][Full Text] [Related]
13. Progressive familial intrahepatic cholestasis.
Jacquemin E
Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
[TBL] [Abstract][Full Text] [Related]
14. Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.
Delaunay JL; Elbahnsi A; Bruneau A; Madry C; Durand-Schneider AM; Stary A; Housset C; Gautheron J; Callebaut I; Aït-Slimane T
Int J Mol Sci; 2023 Jan; 24(2):. PubMed ID: 36674751
[TBL] [Abstract][Full Text] [Related]
15. Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.
Poupon R; Barbu V; Chamouard P; Wendum D; Rosmorduc O; Housset C
Liver Int; 2010 Feb; 30(2):327-31. PubMed ID: 19840255
[TBL] [Abstract][Full Text] [Related]
16. Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.
Vauthier V; Ben Saad A; Elie J; Oumata N; Durand-Schneider AM; Bruneau A; Delaunay JL; Housset C; Aït-Slimane T; Meijer L; Falguières T
Sci Rep; 2019 Apr; 9(1):6653. PubMed ID: 31040306
[TBL] [Abstract][Full Text] [Related]
17. Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B; Durand-Schneider AM; Delaunay JL; Aït-Slimane T; Barbu V; Fakhfakh F; Housset C; Maurice M
Int J Biochem Cell Biol; 2017 Aug; 89():101-109. PubMed ID: 28587926
[TBL] [Abstract][Full Text] [Related]
18. Update on progressive familial intrahepatic cholestasis.
Alissa FT; Jaffe R; Shneider BL
J Pediatr Gastroenterol Nutr; 2008 Mar; 46(3):241-52. PubMed ID: 18376240
[TBL] [Abstract][Full Text] [Related]
19. Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.
Giovannoni I; Santorelli FM; Candusso M; Di Rocco M; Bellacchio E; Callea F; Francalanci P
Dig Liver Dis; 2011 Jul; 43(7):567-70. PubMed ID: 21514256
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]