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Select item 81146001.

Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation

Ulaş Emre Akbulut, Nadide Cemre Randa, İshak Abdurrahman Işık, Atike Atalay

Turk Arch Pediatr. 2021 Jan; 56(1): 72–74. Published online 2021 Jan 1. doi: 10.14744/TurkPediatriArs.2020.74507

PMCID:: PMC8114600

Abstract Article PDF–121K

Select item 73108712.

Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2

Eric Arthur Lorio, David Valadez, Naim Alkhouri, Nicole Loo

ACG Case Rep J. 2020 Jun; 7(6): e00412. Published online 2020 Jun 22. doi: 10.14309/crj.0000000000000412

PMCID:: PMC7310871

Abstract Article PDF–303K

Select item 67771373.

A Physiology-Based Model of Human Bile Acid Metabolism for Predicting Bile Acid Tissue Levels After Drug Administration in Healthy Subjects and BRIC Type 2 Patients

Vanessa Baier, Henrik Cordes, Christoph Thiel, José V. Castell, Ulf P. Neumann, Lars M. Blank, Lars Kuepfer

Front Physiol. 2019; 10: 1192. Published online 2019 Sep 27. doi: 10.3389/fphys.2019.01192

PMCID:: PMC6777137

Abstract Article PDF–1.8M

Select item 64163874.

Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

Min Ji Sohn, Min Hyung Woo, Moon-Woo Seong, Sung Sup Park, Gyeong Hoon Kang, Jin Soo Moon, Jae Sung Ko

Pediatr Gastroenterol Hepatol Nutr. 2019 Mar; 22(2): 201–206. Published online 2019 Feb 27. doi: 10.5223/pghn.2019.22.2.201

PMCID:: PMC6416387

Abstract Article PDF–1.8M

Select item 57963225.

Can genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch

Robert Holz, Andreas E. Kremer, Dieter Lütjohann, Hermann E. Wasmuth, Frank Lammert, Marcin Krawczyk

Hepatol Commun. 2018 Feb; 2(2): 152–154. Published online 2018 Jan 10. doi: 10.1002/hep4.1144

PMCID:: PMC5796322

Abstract Article PDF–91K

Select item 78302936.

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

Abstract Article PDF–1.5M

Select item 37846197.

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

Abstract Article PDF–882K

Select item 30083468.

The Bile Salt Export Pump: Clinical and Experimental Aspects of Genetic and Acquired Cholestatic Liver Disease

Ping Lam, Carol J. Soroka, James L. Boyer

Semin Liver Dis. Author manuscript; available in PMC 2010 Dec 22.

Published in final edited form as: Semin Liver Dis. 2010 May; 30(2): 125–133. Published online 2010 Apr 26. doi: 10.1055/s-0030-1253222

PMCID:: PMC3008346

Abstract Article PDF–614K

Select item 105320779.

Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study

Ken Kato, Shuichiro Umetsu, Takao Togawa, Koichi Ito, Takayoshi Kawabata, Teruko Arinaga-Hino, Naoya Tsumura, Ryosuke Yasuda, Yutaro Mihara, Hironori Kusano, Shogo Ito, Kazuo Imagawa, Hisamitsu Hayashi, Ayano Inui, Yushiro Yamashita, Tatsuki Mizuochi

J Clin Med. 2023 Sep; 12(18): 5979. Published online 2023 Sep 15. doi: 10.3390/jcm12185979

PMCID:: PMC10532077

Abstract Article PDF–939K

Select item 895862510.

Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene

Ryoichi Miura, Tomokazu Kawaoka, Michio Imamura, Masanari Kosaka, Yusuke Johira, Yuki Shirane, Serami Murakami, Shigeki Yano, Kei Amioka, Kensuke Naruto, Yuwa Ando, Yumi Kosaka, Kenichiro Kodama, Shinsuke Uchikawa, Hatsue Fujino, Atsushi Ono, Takashi Nakahara, Eisuke Murakami, Masami Yamauchi, Takao Hinoi, Hiroshi Aikata

Case Rep Gastroenterol. 2022 Jan-Apr; 16(1): 110–115. Published online 2022 Mar 4. doi: 10.1159/000522145

PMCID:: PMC8958625

Abstract Article PDF–425K

Select item 950297811.

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

Abstract Article PDF–30M

Select item 726384312.

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

Abstract Article

Select item 680313613.

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

Abstract Article PDF–363K

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

Abstract Article PDF–3.5M

Select item 608352315.

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

Abstract Article PDF–2.1M

Select item 555077816.

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