323 related articles for article (PubMed ID: 20414253)
21. Progressive familial intrahepatic cholestasis.
Jacquemin E
J Gastroenterol Hepatol; 1999 Jun; 14(6):594-9. PubMed ID: 10385071
[TBL] [Abstract][Full Text] [Related]
22. Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.
Chen ST; Chen HL; Su YN; Liu YJ; Ni YH; Hsu HY; Chu CS; Wang NY; Chang MH
J Gastroenterol Hepatol; 2008 Sep; 23(9):1390-3. PubMed ID: 18853996
[TBL] [Abstract][Full Text] [Related]
23. [The MDR3 gene mutation: a rare cause of progressive familial intrahepatic cholestasis (PFIC)].
Maisonnette F; Abita T; Barriere E; Pichon N; Vincensini JF; Descottes B
Ann Chir; 2005 Oct; 130(9):581-3. PubMed ID: 16199000
[TBL] [Abstract][Full Text] [Related]
24. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.
Strubbe B; Geerts A; Van Vlierberghe H; Colle I
Acta Gastroenterol Belg; 2012 Dec; 75(4):405-10. PubMed ID: 23402083
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW; van der Woerd WL; van der Brugge G; Sturm E; Jansen PL; Bull LN; van den Berg IE; Berger R; Houwen RH; Klomp LW
Gastroenterology; 2004 Aug; 127(2):379-84. PubMed ID: 15300568
[TBL] [Abstract][Full Text] [Related]
27. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis.
Keitel V; Burdelski M; Warskulat U; Kühlkamp T; Keppler D; Häussinger D; Kubitz R
Hepatology; 2005 May; 41(5):1160-72. PubMed ID: 15841457
[TBL] [Abstract][Full Text] [Related]
28. Progressive familial intrahepatic cholestasis.
Srivastava A
J Clin Exp Hepatol; 2014 Mar; 4(1):25-36. PubMed ID: 25755532
[TBL] [Abstract][Full Text] [Related]
29. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.
Alvarez L; Jara P; Sánchez-Sabaté E; Hierro L; Larrauri J; Díaz MC; Camarena C; De la Vega A; Frauca E; López-Collazo E; Lapunzina P
Hum Mol Genet; 2004 Oct; 13(20):2451-60. PubMed ID: 15317749
[TBL] [Abstract][Full Text] [Related]
30. 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; 2007 Jan; 45(1):150-8. PubMed ID: 17187437
[TBL] [Abstract][Full Text] [Related]
31. 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; 2000 May; 9(8):1209-17. PubMed ID: 10767346
[TBL] [Abstract][Full Text] [Related]
32. Current and future therapies for inherited cholestatic liver diseases.
van der Woerd WL; Houwen RH; van de Graaf SF
World J Gastroenterol; 2017 Feb; 23(5):763-775. PubMed ID: 28223721
[TBL] [Abstract][Full Text] [Related]
33. A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.
Stindt J; Ellinger P; Weissenberger K; Dröge C; Herebian D; Mayatepek E; Homey B; Braun S; Schulte am Esch J; Horacek M; Canbay A; Schmitt L; Häussinger D; Kubitz R
Liver Int; 2013 Nov; 33(10):1527-35. PubMed ID: 23758865
[TBL] [Abstract][Full Text] [Related]
34. Familial intrahepatic cholestasis: New and wide perspectives.
Vitale G; Gitto S; Vukotic R; Raimondi F; Andreone P
Dig Liver Dis; 2019 Jul; 51(7):922-933. PubMed ID: 31105019
[TBL] [Abstract][Full Text] [Related]
35. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks SS; Bull LN; Knisely AS; Kocoshis SA; Dahl N; Arnell H; Sokal E; Dahan K; Childs S; Ling V; Tanner MS; Kagalwalla AF; Németh A; Pawlowska J; Baker A; Mieli-Vergani G; Freimer NB; Gardiner RM; Thompson RJ
Nat Genet; 1998 Nov; 20(3):233-8. PubMed ID: 9806540
[TBL] [Abstract][Full Text] [Related]
36. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B; Molera Busoms C; Martorell Sampol L; García Romero R; Colomé Rivero G; Martín de Carpi J
Gastroenterol Hepatol; 2022 Oct; 45(8):585-592. PubMed ID: 34942279
[TBL] [Abstract][Full Text] [Related]
37. [Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis].
Wu Q; Ma B; Yang S; Mei S; Ma X; Kong X; Shi H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):789-793. PubMed ID: 31400129
[TBL] [Abstract][Full Text] [Related]
38. Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Imagawa K; Hayashi H; Sabu Y; Tanikawa K; Fujishiro J; Kajikawa D; Wada H; Kudo T; Kage M; Kusuhara H; Sumazaki R
J Hum Genet; 2018 May; 63(5):569-577. PubMed ID: 29507376
[TBL] [Abstract][Full Text] [Related]
39. Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.
Noe J; Kullak-Ublick GA; Jochum W; Stieger B; Kerb R; Haberl M; Müllhaupt B; Meier PJ; Pauli-Magnus C
J Hepatol; 2005 Sep; 43(3):536-43. PubMed ID: 16039748
[TBL] [Abstract][Full Text] [Related]
40. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
Kagawa T; Watanabe N; Mochizuki K; Numari A; Ikeno Y; Itoh J; Tanaka H; Arias IM; Mine T
Am J Physiol Gastrointest Liver Physiol; 2008 Jan; 294(1):G58-67. PubMed ID: 17947449
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]