679 related articles for article (PubMed ID: 28733223)
1. 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]
2. Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L; Strautnieks S; Jankowska I; Czubkowski P; Emerick K; Antoniou A; Wanty C; Fischler B; Jacquemin E; Wali S; Blanchard S; Nielsen IM; Bourke B; McQuaid S; Lacaille F; Byrne JA; van Eerde AM; Kolho KL; Klomp L; Houwen R; Bacchetti P; Lobritto S; Hupertz V; McClean P; Mieli-Vergani G; Shneider B; Nemeth A; Sokal E; Freimer NB; Knisely AS; Rosenthal P; Whitington PF; Pawlowska J; Thompson RJ; Bull LN
J Hepatol; 2010 Jul; 53(1):170-8. PubMed ID: 20447715
[TBL] [Abstract][Full Text] [Related]
3. Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Hertel PM; Bull LN; Thompson RJ; Goodrich NP; Ye W; Magee JC; Squires RH; Bass LM; Heubi JE; Kim GE; Ranganathan S; Schwarz KB; Bozic MA; Horslen SP; Clifton MS; Turmelle YP; Suchy FJ; Superina RA; Wang KS; Loomes KM; Kamath BM; Sokol RJ; Shneider BL;
J Pediatr Gastroenterol Nutr; 2021 Aug; 73(2):169-177. PubMed ID: 34016879
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Nayagam JS; Williamson C; Joshi D; Thompson RJ
Aliment Pharmacol Ther; 2020 Dec; 52(11-12):1628-1639. PubMed ID: 33070363
[TBL] [Abstract][Full Text] [Related]
7. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G; Gitto S; Raimondi F; Mattiaccio A; Mantovani V; Vukotic R; D'Errico A; Seri M; Russell RB; Andreone P
J Gastroenterol; 2018 Aug; 53(8):945-958. PubMed ID: 29238877
[TBL] [Abstract][Full Text] [Related]
8. Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
Kubitz R; Dröge C; Kluge S; Stross C; Walter N; Keitel V; Häussinger D; Stindt J
Clin Rev Allergy Immunol; 2015 Jun; 48(2-3):273-84. PubMed ID: 25342496
[TBL] [Abstract][Full Text] [Related]
9. 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; 2007 Jan; 17(1):47-60. PubMed ID: 17264802
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Progressive Familial Intrahepatic Cholestasis.
Bull LN; Thompson RJ
Clin Liver Dis; 2018 Nov; 22(4):657-669. PubMed ID: 30266155
[TBL] [Abstract][Full Text] [Related]
12. [Childhood cholestasis and bile transporters].
Hierro L; Jara P
Gastroenterol Hepatol; 2005; 28(7):388-95. PubMed ID: 16137474
[TBL] [Abstract][Full Text] [Related]
13. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T; Haberl M; Jung D; Drescher A; Schlagenhaufer R; Keil A; Mornhinweg E; Stieger B; Kullak-Ublick GA; Kerb R
Drug Metab Dispos; 2006 Sep; 34(9):1582-99. PubMed ID: 16763017
[TBL] [Abstract][Full Text] [Related]
14. Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
Colombo C; Okolicsanyi L; Strazzabosco M
Dig Liver Dis; 2000 Mar; 32(2):152-9. PubMed ID: 10975791
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Huynh MT; Nguyen TT; Grison S; Lascols O; Fernandez E; Barbu V
Rev Esp Enferm Dig; 2019 Oct; 111(10):775-788. PubMed ID: 31538484
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Progressive familial intrahepatic cholestasis. Genetic basis and treatment.
Jacquemin E
Clin Liver Dis; 2000 Nov; 4(4):753-63. PubMed ID: 11232355
[TBL] [Abstract][Full Text] [Related]
20. ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
Al-Hussaini A; Lone K; Bashir MS; Alrashidi S; Fagih M; Alanazi A; AlYaseen S; Almayouf A; Alruwaithi M; Asery A
J Pediatr; 2021 Sep; 236():113-123.e2. PubMed ID: 33915153
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
