323 related articles for article (PubMed ID: 19185004)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. ABCB4: Insights from pathobiology into therapy.
Falguières T; Aït-Slimane T; Housset C; Maurice M
Clin Res Hepatol Gastroenterol; 2014 Oct; 38(5):557-63. PubMed ID: 24953525
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Gastroenterology; ; . PubMed ID: 18482588
[TBL] [Abstract][Full Text] [Related]
14.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
