| 1 | ABCB4, SLC9A3R1
|
| A PDZ-Like Motif in the Biliary Transporter ABCB4 Interacts with the Scaffold Protein EBP50 and Regulates ABCB4 Cell Surface Expression.
|
| Venot Q, Delaunay JL, Fouassier L, Delautier D, Falguières T, Housset C, Maurice M, Aït-Slimane T.
|
| PLoS One 11(1):e0146962. doi: 10.1371/journal.pone.0146962. eCollection 2016.
2016
|
| 2 | ABCB4
|
| Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
|
| Andress EJ, Nicolaou M, Romero MR, Naik S, Dixon PH, Williamson C, Linton KJ.
|
| Hepatology 59(5):1921-31. doi: 10.1002/hep.26970. Epub 2014 Apr 1.
2014
|
| 3 | ABCB4
|
| 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 epatology. 2014 Apr 10. doi: 10.1002/hep.27170. [Epub ahead of print]
2014
|
| 4 | ABCB4, PFIC3
|
| 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 ut. 2014 Mar 4. doi: 10.1136/gutjnl-2014-306896. [Epub ahead of print]
2014
|
| 5 | ABCB4
|
| Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
|
| Degiorgio D, Corsetto PA, Rizzo AM, Colombo C, Seia M, Costantino L, Montorfano G, Tomaiuolo R, Bordo D, Sansanelli S, Li M, Tavian D, Rastaldi MP, Coviello DA.
|
| Eur J Hum Genet 22(5):633-9. doi: 10.1038/ejhg.2013.214. Epub 2013 Sep 18.
2014
|
| 6 | ABCB4, NFYA, NFYB, NFYC
|
| Functional characterization of genetic variations in the MDR3 promoter.
|
| Jang GH, Kim TH, Choe Y, Ham A, Choi JH.
|
| Biochem Biophys Res Commun 430(4):1312-8. doi: 10.1016/j.bbrc.2012.12.041. Epub 2012 Dec 19.
2013
|
| 7 | ABCB4, LPAC
|
| Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).
|
| Kim TH, Park HJ, Choi JH.
|
| Korean J Physiol Pharmacol 17(6):525-30. doi: 10.4196/kjpp.2013.17.6.525. Epub 2013 Dec 16.
2013
|
| 8 | ABCB4
|
| Bile salt-stimulated phospholipid efflux mediated by ABCB4 localized in nonraft membranes.
|
| Morita SY, Tsuda T, Horikami M, Teraoka R, Kitagawa S, Terada T.
|
| J Lipid Res 54(5):1221-30. doi: 10.1194/jlr.M032425. Epub 2013 Mar 6.
2013
|
| 9 | ABCB4
|
| 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 26(12):5081-91. doi: 10.1096/fj.12-209379. Epub 2012 Sep 14.
2012
|
| 10 | ABCB4
|
| Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
|
| Wendum D, Barbu V, Rosmorduc O, Arrivé L, Fléjou JF, Poupon R.
|
| Virchows Arch 460(3):291-8. doi: 10.1007/s00428-012-1202-6. Epub 2012 Feb 14.
2012
|
| 11 | ABCB4, ATP8B1, TMEM30A
|
| Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity.
|
| Groen A, Romero MR, Kunne C, Hoosdally SJ, Dixon PH, Wooding C, Williamson C, Seppen J, Van den Oever K, Mok KS, Paulusma CC, Linton KJ, Oude Elferink RP.
|
| Gastroenterology 141(5):1927-37.e1-4. Epub 2011 Aug 4.
2011
|
| 12 | ABCB4, PFIC3
|
| Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
|
| Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G; SIGENP Study Group for Genetic Cholestasis.
|
| J Pediatr Gastroenterol Nutr 52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363.
2011
|
| 13 | ABCB4, PFIC3
|
| 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 30(2):134-46. doi: 10.1055/s-0030-1253223. Epub 2010 Apr 26. Review.
2010
|
| 14 | ABCB4
|
| 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 41(9):671-5. Epub 2009 Mar 3.
2009
|
| 15 | ABCB11, ABCB4
|
| Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls.
|
| Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grünhage F, Lammert F.
|
| Lipids 44(6):521-6. Epub 2009 Apr 30.
2009
|
| 16 | ABCB4, PFIC3
|
| 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 46(10):711-5. Epub 2009 Jul 6. 2009
|
| 17 | ABCB4
|
| 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 135(1):131-41. Epub 2008 Mar 26. Erratum in: Gastroenterology. 2008 Oct;135(4):1429.
2008
|
| 18 | ABCB4
|
| Single-nucleotide polymorphism analysis of the multidrug resistance protein 3 gene for the detection of clinical progression in Japanese patients with primary biliary cirrhosis.
|
| Ohishi Y, Nakamura M, Iio N, Higa S, Inayoshi M, Aiba Y, Komori A, Omagari K, Ishibashi H, Tsukamoto K.
|
| Hepatology 48(3):853-62.
2008
|
| 19 | PFIC3, ABCB4
|
| 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 15(12):1230-8. Epub 2007 Aug 29. 2007
|
| 20 | ABCB4
|
| Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
|
| Schneider G, Paus TC, Kullak-Ublick GA, Meier PJ, Wienker TF, Lang T, van de Vondel P, Sauerbruch T, Reichel C.
|
| Hepatology 45(1):150-8. 2007
|
| 21 | ABCB11, ABCB4
|
| Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
|
| Lang C, Meier Y, Stieger B, Beuers U, Lang T, Kerb R, Kullak-Ublick GA, Meier PJ, Pauli-Magnus C.
|
| Pharmacogenet Genomics 17(1):47-60.
2007
|
| 22 | ABCB11, PFIC2, ABCB4
|
| Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.
|
| Keitel V, Vogt C, Haussinger D, Kubitz R.
|
| Gastroenterology 131(2):624-9. 2006
|
| 23 | ABCB4
|
| Bezafibrate stimulates canalicular localization of NBD-labeled PC in HepG2 cells by PPARalpha-mediated redistribution of ABCB4.
|
| Shoda J, Inada Y, Tsuji A, Kusama H, Ueda T, Ikegami T, Suzuki H, Sugiyama Y, Cohen DE, Tanaka N.
|
| J Lipid Res 45(10):1813-25. Epub 2004 Jul 16. 2004
|
| 24 | ABCB4, PFIC3
|
| Farnesoid X receptor activates transcription of the phospholipid pump MDR3.
|
| Huang L, Zhao A, Lew JL, Zhang T, Hrywna Y, Thompson JR, de Pedro N, Royo I, Blevins RA, Pelaez F, Wright SD, Cui J.
|
| J Biol Chem 278(51):51085-90. Epub 2003 Oct 2. 2003
|
| 25 | ABCB4, PFIC3
|
| Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
|
| Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C.
|
| Hum Mol Genet 9(8):1209-17. 2000
|
| 26 | PFIC3, ABCB4
|
| Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
|
| de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M.
|
| Proc Natl Acad Sci U S A 95(1):282-7. 1998
|
| 27 | ABCB1, ABCB4, ADAM22, DMTF1, CROT, NADHDL1, SCNEDL, SRI
|
| Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1.
|
| Torigoe K, et al.
|
| Genomics 49 : 14-22. 1998
|
| 28 | MDRE, ABCB1, ABCB4, SLC5A1, SLC5A2, SLC6A1, SLC6A2, SLC6A4, SLC6A6, SLC6A8, SLC6A9
|
| Molecular characterization of neurotransmitter transporters.
|
| Shafqat S, et al.
|
| Mol Endocrinol 7 : 1517-1529. 1993
|
| 29 | ABCB1, ABCB4
|
| Structure of the human MDR3 gene and physical mapping of the human MDR locus.
|
| Lincke CR, et al.
|
| J Biol Chem 266 : 5303-5310. 1991
|
| 30 | ABCB1, ABCB4
|
| MspI/HpaII polymorphism in the human multidrug resistance gene 1.
|
| Haber DA, et al.
|
| Nucleic Acids Res 17 : 10142. 1989
|
| 31 | ABCB1, ABCB4
|
| Structure and expression of the human MDR (P-glycoprotein) gene family.
|
| Chin JE, et al.
|
| Mol Cell Biol 9 : 3808-3820. 1989
|
| 32 | ABCB1, ABCB4
|
| Utility of the polymerase chain reaction in detection of gene expression in drug-resistant human tumors.
|
| Scanlon KJ, et al.
|
| J Clin Lab Analysis 3 : 323-329. 1989
|
| 33 | ABCB1, ABCB4
|
| A polymorphic HindIII site within the human multidrug resistance gene 1 (MDR1).
|
| Yoshimoto K, Iwahana H, Yokogoshi Y, Saito S, Shiraishi M, Sekiya T, Gottesman MM, Pastan I.
|
| Nucleic Acids Res 16 : 11850. 1988
|
| 34 | ABCB1, ABCB4
|
| Detection of drug resistance in human tumors by in vitro enzymatic amplification.
|
| Kashani-Sabet M, et al.
|
| Cancer Res 48 : 5775-5778. 1988
|
| 35 | ABCB1, ABCB4
|
| Clarification of the chromosomal assignment of the human P-glycoprotein/MDR1 gene (PGY1).
|
| Trent JM, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 705. 1987
|
| 36 | ABCB1, ABCB4
|
| Detection of a multidrug resistant phenotype in acute non-lymphoblastic leukaemia.
|
| Ma DDF, et al.
|
| Lancet I : 135-137. 1987
|
| 37 | CFTR, MET, ABCB1, ABCB4
|
| Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7.
|
| Zengerling S, et al.
|
| Am J Hum Genet 40 : 228-236. 1987
|
| 38 | ABCB1, ABCB4
|
| Chromosomal location of human P-glycoprotein gene sequences.
|
| Bell DR, et al.
|
| Cancer Genet Cytogenet 25 : 141-148. 1987
|
| 39 | ABCB1, ABCB4
|
| Clarification of the chromosomal assignment of the human P-glycoprotein/mdr1 gene : possible coincidence with the cystic fibrosis and c-met oncogene.
|
| Trent JM, et al.
|
| Cancer Genet Cytogenet 26 : 187-190. 1987
|
| 40 | ABCB1, ABCB4
|
| RFLPs associated with MDR2, a member of the human multidrug resistance gene family mapped to chromosome 7.
|
| Choi K, et al.
|
| Nucleic Acids Res 15 : 6305. 1987
|
| 41 | ABCB1, ABCB4
|
| Localization of the human multiple drug resistance gene, MDR1, to 7q21.1.
|
| Callen DF, et al.
|
| Hum Genet 77 : 142-144. 1987
|
| 42 | ABCB1, ABCB4
|
| The mdr1 gene, responsible for multidrug-resistance, codes for P-glycoprotein.
|
| Ueda K, et al.
|
| Biochem Biophys Res Commun 141 : 956-962. 1986
|
| 43 | ABCB1, ABCB4
|
| Localization of multidrug resistance-associated DNA sequences to human chromosome 7.
|
| Fojo A, et al.
|
| Somat Cell Mol Genet 12 : 415-420. 1986
|
| 44 | ABCB1, ABCB4
|
| Multidrug resistance of DNA-mediated transformants is linked to transfer of the human mdr1 gene.
|
| Shen DW, et al.
|
| Mol Cell Biol 6 : 4039-4045. 1986
|
| 45 | ABCB1, ABCB4
|
| Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells.
|
| Chen C, et al.
|
| Cell 47 : 381-389. 1986
|
| 46 | ABCB1, ABCB4
|
| Chromosomal localization in normal human cells and CHO cells of asequence derived from P-glycoprotein (PGY1).
|
| Trent J, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 761-762. 1985
|