274 related articles for article (PubMed ID: 32087350)
1. Genotype correlates with the natural history of severe bile salt export pump deficiency.
van Wessel DBE; Thompson RJ; Gonzales E; Jankowska I; Sokal E; Grammatikopoulos T; Kadaristiana A; Jacquemin E; Spraul A; Lipiński P; Czubkowski P; Rock N; Shagrani M; Broering D; Algoufi T; Mazhar N; Nicastro E; Kelly DA; Nebbia G; Arnell H; Björn Fischler ; Hulscher JBF; Serranti D; Arikan C; Polat E; Debray D; Lacaille F; Goncalves C; Hierro L; Muñoz Bartolo G; Mozer-Glassberg Y; Azaz A; Brecelj J; Dezsőfi A; Calvo PL; Grabhorn E; Sturm E; van der Woerd WJ; Kamath BM; Wang JS; Li L; Durmaz Ö; Onal Z; Bunt TMG; Hansen BE; Verkade HJ;
J Hepatol; 2020 Jul; 73(1):84-93. PubMed ID: 32087350
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A; van Wessel DBE; Gonzales E; Thompson RJ; Jankowska I; Shneider BL; Sokal E; Grammatikopoulos T; Kadaristiana A; Jacquemin E; Spraul A; Lipiński P; Czubkowski P; Rock N; Shagrani M; Broering D; Nicastro E; Kelly D; Nebbia G; Arnell H; Fischler B; Hulscher JBF; Serranti D; Arikan C; Polat E; Debray D; Lacaille F; Goncalves C; Hierro L; Muñoz Bartolo G; Mozer-Glassberg Y; Azaz A; Brecelj J; Dezsőfi A; Calvo PL; Grabhorn E; Hartleif S; van der Woerd WJ; Kamath BM; Wang JS; Li L; Durmaz Ö; Kerkar N; Jørgensen MH; Fischer R; Jimenez-Rivera C; Alam S; Cananzi M; Laverdure N; Ferreira CT; Guerrero FO; Wang H; Sency V; Kim KM; Chen HL; de Carvalho E; Fabre A; Bernabeu JQ; Zellos A; Alonso EM; Sokol RJ; Suchy FJ; Loomes KM; McKiernan PJ; Rosenthal P; Turmelle Y; Horslen S; Schwarz K; Bezerra JA; Wang K; Hansen BE; Verkade HJ;
JHEP Rep; 2023 Feb; 5(2):100626. PubMed ID: 36687469
[TBL] [Abstract][Full Text] [Related]
3. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE; Thompson RJ; Gonzales E; Jankowska I; Shneider BL; Sokal E; Grammatikopoulos T; Kadaristiana A; Jacquemin E; Spraul A; Lipiński P; Czubkowski P; Rock N; Shagrani M; Broering D; Algoufi T; Mazhar N; Nicastro E; Kelly D; Nebbia G; Arnell H; Fischler B; Hulscher JBF; Serranti D; Arikan C; Debray D; Lacaille F; Goncalves C; Hierro L; Muñoz Bartolo G; Mozer-Glassberg Y; Azaz A; Brecelj J; Dezsőfi A; Luigi Calvo P; Krebs-Schmitt D; Hartleif S; van der Woerd WL; Wang JS; Li LT; Durmaz Ö; Kerkar N; Hørby Jørgensen M; Fischer R; Jimenez-Rivera C; Alam S; Cananzi M; Laverdure N; Targa Ferreira C; Ordonez F; Wang H; Sency V; Mo Kim K; Chen HL; Carvalho E; Fabre A; Quintero Bernabeu J; Alonso EM; Sokol RJ; Suchy FJ; Loomes KM; McKiernan PJ; Rosenthal P; Turmelle Y; Rao GS; Horslen S; Kamath BM; Rogalidou M; Karnsakul WW; Hansen B; Verkade HJ;
Hepatology; 2021 Aug; 74(2):892-906. PubMed ID: 33666275
[TBL] [Abstract][Full Text] [Related]
4. Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.
Ellinger P; Stindt J; Dröge C; Sattler K; Stross C; Kluge S; Herebian D; Smits SHJ; Burdelski M; Schulz-Jürgensen S; Ballauff A; Schulte Am Esch J; Mayatepek E; Häussinger D; Kubitz R; Schmitt L
World J Gastroenterol; 2017 Aug; 23(29):5295-5303. PubMed ID: 28839429
[TBL] [Abstract][Full Text] [Related]
5. Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
Liu T; Wang RX; Han J; Hao CZ; Qiu YL; Yan YY; Li LT; Wang NL; Gong JY; Lu Y; Zhang MH; Xie XB; Yang JC; You YJ; Li JQ; Knisely AS; Borchers CH; Ling V; Wang JS
Liver Int; 2018 Sep; 38(9):1676-1685. PubMed ID: 29412511
[TBL] [Abstract][Full Text] [Related]
6. Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Pfister ED; Jaeger VK; Karch A; Shay D; Schukfeh N; Ohlendorf J; Junge N; Goldschmidt I; Stalke A; Keitel-Anselmino V; Baumann U
Hepatol Commun; 2023 Apr; 7(4):. PubMed ID: 36995996
[TBL] [Abstract][Full Text] [Related]
7. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.
Jansen PL; Strautnieks SS; Jacquemin E; Hadchouel M; Sokal EM; Hooiveld GJ; Koning JH; De Jager-Krikken A; Kuipers F; Stellaard F; Bijleveld CM; Gouw A; Van Goor H; Thompson RJ; Müller M
Gastroenterology; 1999 Dec; 117(6):1370-9. PubMed ID: 10579978
[TBL] [Abstract][Full Text] [Related]
8. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS; Byrne JA; Pawlikowska L; Cebecauerová D; Rayner A; Dutton L; Meier Y; Antoniou A; Stieger B; Arnell H; Ozçay F; Al-Hussaini HF; Bassas AF; Verkade HJ; Fischler B; Németh A; Kotalová R; Shneider BL; Cielecka-Kuszyk J; McClean P; Whitington PF; Sokal E; Jirsa M; Wali SH; Jankowska I; Pawłowska J; Mieli-Vergani G; Knisely AS; Bull LN; Thompson RJ
Gastroenterology; 2008 Apr; 134(4):1203-14. PubMed ID: 18395098
[TBL] [Abstract][Full Text] [Related]
9. The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI; Dönmez-Cakil Y; Szöllősi D; Stockner T; Chiba P
Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33466755
[TBL] [Abstract][Full Text] [Related]
10. Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ; Boyer JL
Mol Aspects Med; 2014 Jun; 37():3-14. PubMed ID: 23685087
[TBL] [Abstract][Full Text] [Related]
11. Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Mareux E; Lapalus M; Amzal R; Almes M; Aït-Slimane T; Delaunay JL; Adnot P; Collado-Hilly M; Davit-Spraul A; Falguières T; Callebaut I; Gonzales E; Jacquemin E
Liver Int; 2020 Aug; 40(8):1917-1925. PubMed ID: 32433800
[TBL] [Abstract][Full Text] [Related]
12. [Relationship between phenotype and genotype of ABCB11 deficiency in siblings and literature review].
Peng XR; Lu Y; Zhang MH; Li LT; Xie XB; Gong JY; Wang JS
Zhonghua Er Ke Za Zhi; 2018 Jun; 56(6):440-444. PubMed ID: 29886607
[No Abstract] [Full Text] [Related]
13. 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]
14. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A; Fabre M; Branchereau S; Baussan C; Gonzales E; Stieger B; Bernard O; Jacquemin E
Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290
[TBL] [Abstract][Full Text] [Related]
15. Metabolic preconditioning protects BSEP/ABCB11
Fuchs CD; Paumgartner G; Wahlström A; Schwabl P; Reiberger T; Leditznig N; Stojakovic T; Rohr-Udilova N; Chiba P; Marschall HU; Trauner M
J Hepatol; 2017 Jan; 66(1):95-101. PubMed ID: 27593105
[TBL] [Abstract][Full Text] [Related]
16. Bile salt export pump (BSEP/ABCB11): trafficking and sorting disturbances.
Hayashi H; Sugiyama Y
Curr Mol Pharmacol; 2013 Jul; 6(2):95-103. PubMed ID: 23876151
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.
Lam P; Pearson CL; Soroka CJ; Xu S; Mennone A; Boyer JL
Am J Physiol Cell Physiol; 2007 Nov; 293(5):C1709-16. PubMed ID: 17855769
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Generation of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cells.
Imagawa K; Takayama K; Isoyama S; Tanikawa K; Shinkai M; Harada K; Tachibana M; Sakurai F; Noguchi E; Hirata K; Kage M; Kawabata K; Sumazaki R; Mizuguchi H
Sci Rep; 2017 Feb; 7():41806. PubMed ID: 28150711
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
