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Select item 95029781.

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 78302932.

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 72638433.

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 68031364.

Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

Ilenia Panasiti, Silvana Briuglia, Stefano Costa, Lucia Caminiti

BMJ Case Rep. 2019; 12(10): e230152. Published online 2019 Oct 18. doi: 10.1136/bcr-2019-230152

PMCID:: PMC6803136

Article PDF–363K

Select item 64803375.

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 60835236.

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications

Eva Sticova, Milan Jirsa, Joanna Pawłowska

Can J Gastroenterol Hepatol. 2018; 2018: 2313675. Published online 2018 Jul 26. doi: 10.1155/2018/2313675

PMCID:: PMC6083523

Article PDF–2.1M

Select item 55507787.

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 48884178.

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann–Pick disease type C in a Russian patient: a case report

A. V. Degtyareva, S. V. Mikhailova, E. Y. Zakharova, E. L. Tumanova, A. A. Puchkova

J Med Case Rep. 2016; 10: 143. Published online 2016 Jun 1. doi: 10.1186/s13256-016-0925-4

PMCID:: PMC4888417

Article PDF–737K

Select item 48450199.

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations

Carola Dröge, Heiner Schaal, Guido Engelmann, Daniel Wenning, Dieter Häussinger, Ralf Kubitz

Sci Rep. 2016; 6: 24827. Published online 2016 Apr 26. doi: 10.1038/srep24827

PMCID:: PMC4845019

Article PDF–1.4M

Select item 458828510.

Elevated copper impairs hepatic nuclear receptor function in Wilson’s disease

Clavia Ruth Wooton-Kee, Ajay K. Jain, Martin Wagner, Michael A. Grusak, Milton J. Finegold, Svetlana Lutsenko, David D. Moore

J Clin Invest. 2015 Sep 1; 125(9): 3449–3460. Published online 2015 Aug 4. doi: 10.1172/JCI78991

PMCID:: PMC4588285

Article PDF–1.3M

Select item 412140511.

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing

GUORUI HU, PING HE, ZHIFENG LIU, QIAN CHEN, BIXIA ZHENG, QIHUA ZHANG

Mol Med Rep. 2014 Sep; 10(3): 1264–1274. Published online 2014 Jun 20. doi: 10.3892/mmr.2014.2349

PMCID:: PMC4121405

Article PDF–738K

Select item 378461912.

Biosynthesis and Trafficking of the Bile Salt Export Pump, BSEP: Therapeutic Implications of BSEP Mutations

Carol J. Soroka, James L. Boyer

Mol Aspects Med. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Mol Aspects Med. 2014 Jun; 37: 3–14. Published online 2013 May 15. doi: 10.1016/j.mam.2013.05.001

PMCID:: PMC3784619

Article PDF–882K

Select item 341605013.

Morphologic Findings in Progressive Familial Intrahepatic Cholestasis 2 (PFIC2): Correlation With Genetic and Immunohistochemical Studies

Kimberley Evason, Kevin E. Bove, Milton J. Finegold, A.S. Knisely, Sue Rhee, Philip Rosenthal, Alexander G. Miethke, Saul J. Karpen, Linda D. Ferrell, Grace E. Kim

Am J Surg Pathol. Author manuscript; available in PMC 2012 Aug 10.

Published in final edited form as: Am J Surg Pathol. 2011 May; 35(5): 687–696. doi: 10.1097/PAS.0b013e318212ec87

PMCID:: PMC3416050

Article PDF–2.9M

Select item 314260214.

Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family

Yannick Beauséjour, Fernando Alvarez, Martin Beaulieu, Marc Bilodeau

Can J Gastroenterol. 2011 Jun; 25(6): 311–314. doi: 10.1155/2011/534918

PMCID:: PMC3142602

Article PDF–533K

Select item 1076758615.

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review

Yang Zheng, Qunfang Rao, Yiru Han, Jianqin He

Mol Genet Genomic Med. 2024 Jan; 12(1): e2291. Published online 2023 Oct 3. doi: 10.1002/mgg3.2291

PMCID:: PMC10767586

Article PDF–936K

Select item 1006986216.

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 837367317.

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 778984018.

Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte‐Derived Macrophages

Ayumu Mizutani, Yusuke Sabu, Sotaro Naoi, Shogo Ito, Satoshi Nakano, Kei Minowa, Tatsuki Mizuochi, Koichi Ito, Daiki Abukawa, Shunsaku Kaji, Mika Sasaki, Koji Muroya, Yoshihiro Azuma, Satoshi Watanabe, Yuki Oya, Yukihiro Inomata, Akinari Fukuda, Mureo Kasahara, Ayano Inui, Hajime Takikawa, Hiroyuki Kusuhara, Kazuhiko Bessho, Mitsuyoshi Suzuki, Takao Togawa, Hisamitsu Hayashi

Hepatol Commun. 2021 Jan; 5(1): 52–62. Published online 2020 Sep 26. doi: 10.1002/hep4.1605

PMCID:: PMC7789840

Article PDF–537K

Select item 717550319.

Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report

Zhenping Wu, Siying Zhang, Lunli Zhang, Ming Li

Diagn Pathol. 2020; 15: 39. Published online 2020 Apr 22. doi: 10.1186/s13000-020-00955-7

PMCID:: PMC7175503

Article PDF–686K

Select item 560429920.

Dubin–Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report

Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Ginige Nalika Nirmalenede Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols

BMC Res Notes. 2017; 10: 487. Published online 2017 Sep 18. doi: 10.1186/s13104-017-2811-6

Correction in:: BMC Res Notes. 2017; 10: 492.

PMCID:: PMC5604299

Article PDF–1.1M

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