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Select item 100698621.

Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study

Eva-Doreen Pfister, Veronika K Jaeger, André Karch, Denys Shay, Nagoud Schukfeh, Johanna Ohlendorf, Norman Junge, Imeke Goldschmidt, Amelie Stalke, Verena Keitel-Anselmino, Ulrich Baumann

Hepatol Commun. 2023 Apr; 7(4): e0092. Published online 2023 Mar 30. doi: 10.1097/HC9.0000000000000092

PMCID:: PMC10069862

Article PDF–465K

Select item 95029782.

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators

Elodie Mareux, Martine Lapalus, Amel Ben Saad, Renaud Zelli, Mounia Lakli, Yosra Riahi, Marion Almes, Manon Banet, Isabelle Callebaut, Jean-Luc Decout, Thomas Falguières, Emmanuel Jacquemin, Emmanuel Gonzales

Int J Mol Sci. 2022 Sep; 23(18): 10758. Published online 2022 Sep 15. doi: 10.3390/ijms231810758

PMCID:: PMC9502978

Article PDF–30M

Select item 94263803.

Maralixibat for the treatment of PFIC: Long‐term, IBAT inhibition in an open‐label, Phase 2 study

Kathleen M. Loomes, Robert H. Squires, Deirdre Kelly, Sanjay Rajwal, Nisreen Soufi, Alain Lachaux, Irena Jankowska, Cara Mack, Kenneth D. R. Setchell, Palaniswamy Karthikeyan, Ciara Kennedy, Alejandro Dorenbaum, Nirav K. Desai, Will Garner, Thomas Jaecklin, Pamela Vig, Alexander Miethke, Richard J. Thompson

Hepatol Commun. 2022 Sep; 6(9): 2379–2390. Published online 2022 May 4. doi: 10.1002/hep4.1980

PMCID:: PMC9426380

Article PDF–3.0M

Select item 88094954.

Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study

Claudia Mighiu, Sonia O’Hara, Enrico Ferri Grazzi, Karen F. Murray, Jörn M. Schattenberg, Emily Ventura, Melanie Karakaidos, Alison Taylor, Harpreet Brrang, Anil Dhawan, Jose Willemse, Alan Finnegan

Orphanet J Rare Dis. 2022; 17: 32. Published online 2022 Feb 2. doi: 10.1186/s13023-022-02177-0

PMCID:: PMC8809495

Article PDF–969K

Select item 86369675.

Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients

Ines Selmi, Franck Broly, Haifa Ouarda, Emna Marmech, Zied Khlayfia, Jihed Kanzari, Ons Azzabi, Nadia SIALA

Tunis Med. 2021 Feb; 99(2): 215–220. Published online 2021 Feb 1.

PMCID:: PMC8636967

Article PDF–305K

Select item 86008816.

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales, Emmanuel Jacquemin

Orphanet J Rare Dis. 2021; 16: 484. Published online 2021 Nov 18. doi: 10.1186/s13023-021-02125-4

PMCID:: PMC8600881

Article PDF–1.2M

Select item 83736737.

Mutation analysis and disease features at presentation in a multi-center cohort of children with monogenic cholestasis

Paula M. Hertel, Laura N. Bull, Richard J. Thompson, Nathan P. Goodrich, Wen Ye, John C. Magee, Robert H. Squires, Lee M. Bass, James E. Heubi, Grace E. Kim, Sarangarajan Ranganathan, Kathleen B. Schwarz, Molly A. Bozic, Simon P. Horslen, Matthew S. Clifton, Yumirle P. Turmelle, Frederick J. Suchy, Riccardo A. Superina, Kasper S. Wang, Kathleen M. Loomes, Binita M. Kamath, Ronald J. Sokol, Benjamin L. Shneider, Childhood Liver Disease Research Network (ChiLDReN)

J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2022 Aug 1.

Published in final edited form as: J Pediatr Gastroenterol Nutr. 2021 Aug 1; 73(2): 169–177. doi: 10.1097/MPG.0000000000003153

PMCID:: PMC8373673

Article PDF–1.0M

Select item 81738838.

Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review

Tracey Jones-Hughes, Jo Campbell, Louise Crathorne

Orphanet J Rare Dis. 2021; 16: 255. Published online 2021 Jun 3. doi: 10.1186/s13023-021-01884-4

PMCID:: PMC8173883

Article PDF–1.2M

Select item 80301179.

Cloning of human ABCB11 gene in E. coli required the removal of an intragenic Pribnow-Schaller Box before it’s Insertion into genomic safe harbor AAVS1 site using CRISPR–Cas9

Nisha Vats, Madhusudana Girija Sanal, Senthil Kumar Venugopal, Pankaj Taneja, Shiv Kumar Sarin

Version 1. F1000Res. 2020; 9: 1498. Published online 2020 Dec 23. doi: 10.12688/f1000research.26659.1

PMCID:: PMC8030117

Article PDF–6.0M

Select item 783029310.

The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies

Muhammad Imran Sohail, Yaprak Dönmez-Cakil, Dániel Szöllősi, Thomas Stockner, Peter Chiba

Int J Mol Sci. 2021 Jan; 22(2): 784. Published online 2021 Jan 14. doi: 10.3390/ijms22020784

PMCID:: PMC7830293

Article PDF–1.5M

Select item 781816211.

婴儿肝内胆汁淤积症患儿的临床特征及基因分析

王美娟, 钟雪梅, 马昕, 宁慧娟, 朱丹, 宫幼喆, 金萌

Zhongguo Dang Dai Er Ke Za Zhi. 2021 Jan 15; 23(1): 91–97. Chinese. doi: 10.7499/j.issn.1008-8830.2009079

PMCID:: PMC7818162

Article PDF–1.6M

Select item 734643312.

Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report

Anna Baghdasaryan, Lisa Ofner-Ziegenfuß, Carolin Lackner, Peter Fickert, Bernhard Resch, Nicholas Mark Morris, Andrea Deutschmann

BMC Pediatr. 2020; 20: 340. Published online 2020 Jul 9. doi: 10.1186/s12887-020-02201-x

PMCID:: PMC7346433

Article PDF–961K

Select item 726384313.

Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis

Kang Ho Kim, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J Finegold, David D Moore

Endocrinology. 2018 Jun; 159(6): 2435–2446. Published online 2018 Apr 26. doi: 10.1210/en.2018-00110

PMCID:: PMC7263843

Article

Select item 648033714.

Zebrafish abcb11b mutant reveals novel strategies to restore bile excretion impaired by bile salt export pump deficiency

Jillian L. Ellis, Kevin E. Bove, Erin G. Schuetz, Daniel Leino, C. Alexander Valencia, John D. Schuetz, Alexander Miethke, Chunyue Yin

Hepatology. Author manuscript; available in PMC 2019 Apr 24.

Published in final edited form as: Hepatology. 2018 Apr; 67(4): 1531–1545. Published online 2018 Feb 23. doi: 10.1002/hep.29632

PMCID:: PMC6480337

Article PDF–3.5M

Select item 631426515.

Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2^−/− mice

Renxue Wang, Jonathan A. Sheps, Lin Liu, Jun Han, Patrick S. K. Chen, Jason Lamontagne, Peter D. Wilson, Ian Welch, Christoph H. Borchers, Victor Ling

J Lipid Res. 2019 Jan; 60(1): 85–97. Published online 2018 Nov 11. doi: 10.1194/jlr.M088070

PMCID:: PMC6314265

Article PDF–2.2M

Select item 620321216.

Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases

Huey-Ling Chen, Shang-Hsin Wu, Shu-Hao Hsu, Bang-Yu Liou, Hui-Ling Chen, Mei-Hwei Chang

J Biomed Sci. 2018; 25: 75. Published online 2018 Oct 26. doi: 10.1186/s12929-018-0475-8

PMCID:: PMC6203212

Article PDF–1.4M

Select item 555077817.

Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation

Philipp Ellinger, Jan Stindt, Carola Dröge, Katharina Sattler, Claudia Stross, Stefanie Kluge, Diran Herebian, Sander H J Smits, Martin Burdelski, Sebastian Schulz-Jürgensen, Antje Ballauff, Jan Schulte am Esch, Ertan Mayatepek, Dieter Häussinger, Ralf Kubitz, Lutz Schmitt

World J Gastroenterol. 2017 Aug 7; 23(29): 5295–5303. Published online 2017 Aug 7. doi: 10.3748/wjg.v23.i29.5295

PMCID:: PMC5550778

Article PDF–1.4M

Select item 548788518.

ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population

Edward J. Andress, Michael Nicolaou, Farrell McGeoghan, Kenneth J. Linton

Cell Mol Life Sci. 2017; 74(13): 2513–2524. Published online 2017 Feb 20. doi: 10.1007/s00018-017-2472-6

PMCID:: PMC5487885

Article PDF–2.6M

Select item 529619319.

Current and future therapies for inherited cholestatic liver diseases

Wendy L van der Woerd, Roderick HJ Houwen, Stan FJ van de Graaf

World J Gastroenterol. 2017 Feb 7; 23(5): 763–775. Published online 2017 Feb 7. doi: 10.3748/wjg.v23.i5.763

PMCID:: PMC5296193

Article PDF–1.6M

Select item 528878320.

Generation of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cells

Kazuo Imagawa, Kazuo Takayama, Shigemi Isoyama, Ken Tanikawa, Masato Shinkai, Kazuo Harada, Masashi Tachibana, Fuminori Sakurai, Emiko Noguchi, Kazumasa Hirata, Masayoshi Kage, Kenji Kawabata, Ryo Sumazaki, Hiroyuki Mizuguchi

Sci Rep. 2017; 7: 41806. Published online 2017 Feb 2. doi: 10.1038/srep41806

PMCID:: PMC5288783

Article PDF–1.6M

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