BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 24723470)

  • 1. 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]  

  • 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. 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. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
    Stättermayer AF; Halilbasic E; Wrba F; Ferenci P; Trauner M
    J Hepatol; 2020 Sep; 73(3):651-663. PubMed ID: 32376413
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
    Poupon R; Rosmorduc O; Boëlle PY; Chrétien Y; Corpechot C; Chazouillères O; Housset C; Barbu V
    Hepatology; 2013 Sep; 58(3):1105-10. PubMed ID: 23533021
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.