195 related articles for article (PubMed ID: 19273348)
21. 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]
22. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.
Rosmorduc O; Hermelin B; Poupon R
Gastroenterology; 2001 May; 120(6):1459-67. PubMed ID: 11313316
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Liver pathology in severe multidrug resistant 3 protein deficiency: a series of 10 pediatric cases.
Vij M; Safwan M; Shanmugam NP; Rela M
Ann Diagn Pathol; 2015 Oct; 19(5):277-82. PubMed ID: 26117383
[TBL] [Abstract][Full Text] [Related]
25. Paucity of Interlobular Bile Ducts in Multidrug-Resistant P-Glycoprotein 3 (MDR3) Deficiency.
Vij M; Valamparampil J; Shanmugum N; Reddy SM; Rajindrajith S; Rela M
Int J Surg Pathol; 2019 May; 27(3):343-347. PubMed ID: 30222019
[TBL] [Abstract][Full Text] [Related]
26. MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes.
Trauner M; Fickert P; Wagner M
Semin Liver Dis; 2007 Feb; 27(1):77-98. PubMed ID: 17295178
[TBL] [Abstract][Full Text] [Related]
27. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.
Pauli-Magnus C; Lang T; Meier Y; Zodan-Marin T; Jung D; Breymann C; Zimmermann R; Kenngott S; Beuers U; Reichel C; Kerb R; Penger A; Meier PJ; Kullak-Ublick GA
Pharmacogenetics; 2004 Feb; 14(2):91-102. PubMed ID: 15077010
[TBL] [Abstract][Full Text] [Related]
28. Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.
Huynh MT; Delaunay JL; Muller L; Corpechot C; Tran CT; Barbu V
Rev Esp Enferm Dig; 2019 Jan; 111(1):76-79. PubMed ID: 30449124
[TBL] [Abstract][Full Text] [Related]
29. The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.
Falcão D; Pedroto I; Moreira T
Dig Liver Dis; 2022 Feb; 54(2):221-227. PubMed ID: 34376370
[TBL] [Abstract][Full Text] [Related]
30. ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.
Prescher M; Kroll T; Schmitt L
Biol Chem; 2019 Sep; 400(10):1245-1259. PubMed ID: 30730833
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Biliary transporter gene mutations in severe intrahepatic cholestasis of pregnancy: Diagnostic and management implications.
Yeap SP; Harley H; Thompson R; Williamson KD; Bate J; Sethna F; Farrell G; Hague WB
J Gastroenterol Hepatol; 2019 Feb; 34(2):425-435. PubMed ID: 29992621
[TBL] [Abstract][Full Text] [Related]
33. 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
J Hepatol; 2017 Dec; 67(6):1253-1264. PubMed ID: 28733223
[TBL] [Abstract][Full Text] [Related]
34. First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Pasmant E; Goussard P; Baranes L; Laurendeau I; Quentin S; Ponsot P; Consigny Y; Farges O; Condat B; Vidaud D; Vidaud M; Chen JM; Parfait B
Eur J Hum Genet; 2012 Mar; 20(3):277-82. PubMed ID: 21989363
[TBL] [Abstract][Full Text] [Related]
35. Progressive familial intrahepatic cholestasis.
Srivastava A
J Clin Exp Hepatol; 2014 Mar; 4(1):25-36. PubMed ID: 25755532
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Genetic cholestasis, causes and consequences for hepatobiliary transport.
Jansen PL; Sturm E
Liver Int; 2003 Oct; 23(5):315-22. PubMed ID: 14708891
[TBL] [Abstract][Full Text] [Related]
38. Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Cao L; Ling X; Yan J; Feng D; Dong Y; Xu Z; Wang F; Zhu S; Gao Y; Cao Z; Zhang M
Orphanet J Rare Dis; 2024 Apr; 19(1):157. PubMed ID: 38610052
[TBL] [Abstract][Full Text] [Related]
39. Genetic Analysis of
Wang HH; Portincasa P; Liu M; Wang DQ
Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741809
[TBL] [Abstract][Full Text] [Related]
40. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
Rosmorduc O; Poupon R
Orphanet J Rare Dis; 2007 Jun; 2():29. PubMed ID: 17562004
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]