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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. Gotthardt D, et al. Among authors: keitel v. Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485. Hepatology. 2008. PMID: 18781607
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V. Dröge C, et al. Among authors: keitel v. J Hepatol. 2017 Dec;67(6):1253-1264. doi: 10.1016/j.jhep.2017.07.004. Epub 2017 Jul 19. J Hepatol. 2017. PMID: 28733223
Inborn errors of biliary canalicular transport systems.
Kubitz R, Keitel V, Häussinger D. Kubitz R, et al. Among authors: keitel v. Methods Enzymol. 2005;400:558-69. doi: 10.1016/S0076-6879(05)00031-5. Methods Enzymol. 2005. PMID: 16399370 Review.
Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency.
Stindt J, Kluge S, Dröge C, Keitel V, Stross C, Baumann U, Brinkert F, Dhawan A, Engelmann G, Ganschow R, Gerner P, Grabhorn E, Knisely AS, Noli KA, Pukite I, Shepherd RW, Ueno T, Schmitt L, Wiek C, Hanenberg H, Häussinger D, Kubitz R. Stindt J, et al. Among authors: keitel v. Hepatology. 2016 Feb;63(2):524-37. doi: 10.1002/hep.28311. Epub 2015 Dec 15. Hepatology. 2016. PMID: 26516723
184 results