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Select item 110275191.

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang, Xin-Bao Xie

Orphanet J Rare Dis. 2024; 19: 171. Published online 2024 Apr 19. doi: 10.1186/s13023-024-03166-1

PMCID:: PMC11027519

Abstract Article PDF–1.1M

Select item 97735402.

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

Rong Chen, Feng-Xia Yang, Yan-Fang Tan, Mei Deng, Hua Li, Yi Xu, Wen-Xian Ouyang, Yuan-Zong Song

Orphanet J Rare Dis. 2022; 17: 445. Published online 2022 Dec 22. doi: 10.1186/s13023-022-02597-y

PMCID:: PMC9773540

Abstract Article PDF–2.1M

Select item 95927743.

Vasor: Accurate prediction of variant effects for amino acid substitutions in multidrug resistance protein 3

Annika Behrendt, Pegah Golchin, Filip König, Daniel Mulnaes, Amelie Stalke, Carola Dröge, Verena Keitel, Holger Gohlke

Hepatol Commun. 2022 Nov; 6(11): 3098–3111. Published online 2022 Sep 16. doi: 10.1002/hep4.2088

PMCID:: PMC9592774

Abstract Article PDF–12M

Select item 95124614.

Clinical phenotype of adult‐onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1

Jeremy S. Nayagam, Pierre Foskett, Sandra Strautnieks, Kosh Agarwal, Rosa Miquel, Deepak Joshi, Richard J. Thompson

Hepatol Commun. 2022 Oct; 6(10): 2654–2664. Published online 2022 Jul 27. doi: 10.1002/hep4.2051

PMCID:: PMC9512461

Abstract Article PDF–814K

Select item 94263805.

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

Abstract Article PDF–3.0M

Select item 88410666.

Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series

Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, Hidehito Kondo, Shogo Ito, Takao Togawa, Masanao Yano, Yuki Yamano, Taisuke Inoue, Miho Fukui, Shinsuke Onuma, Tomoya Fukuoka, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Taichi Kitaoka, Shin Nabatame, Keiichi Ozono

J Med Case Rep. 2022; 16: 60. Published online 2022 Feb 13. doi: 10.1186/s13256-022-03279-w

PMCID:: PMC8841066

Abstract Article PDF–1.6M

Select item 88094957.

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

Abstract Article PDF–969K

Select item 86738578.

Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver

Daniel H. Leung, Lisa G. Sorensen, Wen Ye, Kieran Hawthorne, Vicky L. Ng, Kathleen M. Loomes, Emily M. Fredericks, Estella M. Alonso, James E. Heubi, Simon P. Horslen, Saul J. Karpen, Jean P. Molleston, Philip Rosenthal, Ronald J. Sokol, Robert H. Squires, Kasper S. Wang, Binita M. Kamath, John C. Magee

J Pediatr Gastroenterol Nutr. 2022 Jan; 74(1): 96–103. Published online 2021 Oct 22. doi: 10.1097/MPG.0000000000003337

PMCID:: PMC8673857

Abstract Article PDF–570K

Select item 74967729.

A Molecular Mechanism Underlying Genotype‐Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations

Arend W. Overeem, Qinghong Li, Yi‐Ling Qiu, Fernando Cartón‐García, Changsen Leng, Karin Klappe, Just Dronkers, Nai‐Hua Hsiao, Jian‐She Wang, Diego Arango, Sven C.D. van Ijzendoorn

Hepatology. 2020 Jul; 72(1): 213–229. Published online 2020 Apr 23. doi: 10.1002/hep.31002

PMCID:: PMC7496772

Abstract Article PDF–2.5M

Select item 739951410.

进行性家族性肝内胆汁淤积症1型1例临床特点和ATP8B1基因突变分析

程映, 郭丽, 宋元宗

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug 15; 18(8): 751–756. Chinese. doi: 10.7499/j.issn.1008-8830.2016.08.016

PMCID:: PMC7399514

Abstract Article PDF–1.8M

Select item 726384311.

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 717550312.

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

Abstract Article PDF–686K

Select item 685676513.

Progressive familial intrahepatic cholestasis type‐3 and multiple sclerosis: lessons from comorbidity

Roberto De Masi, Stefania Orlando, Antonella De Donno

Ann Clin Transl Neurol. 2019 Nov; 6(11): 2347–2350. Published online 2019 Sep 30. doi: 10.1002/acn3.50883

PMCID:: PMC6856765

Abstract Article PDF–813K

Select item 652606114.

Clinical Utility of Genomic Analysis in Adults with Idiopathic Liver Disease

Aaron Hakim, Xuchen Zhang, Angela DeLisle, Elif A. Oral, Daniel Dykas, Kaela Drzewiecki, David N. Assis, Marina Silveira, Jennifer Batisti, Dhanpat Jain, Allen Bale, Pramod K. Mistry, Silvia Vilarinho

J Hepatol. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: J Hepatol. 2019 Jun; 70(6): 1214–1221. Published online 2019 Apr 15. doi: 10.1016/j.jhep.2019.01.036

PMCID:: PMC6526061

Abstract Article PDF–1.8M

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

Abstract Article PDF–2.2M

Select item 589344316.

Dual Catenin Loss in Murine Liver Causes Tight Junctional Deregulation and Progressive Intrahepatic Cholestasis

Tirthadipa Pradhan-Sundd, Lili Zhou, Ravi Vats, An Jiang, Laura Molina, Sucha Singh, Minakshi Poddar, Jacquelyn M Russell, Donna B Stolz, Michael Oertel, Udayan Apte, Simon Watkins, Sarangarajan Ranganathan, Kari N. Nejak-Bowen, Prithu Sundd, Satdarshan Pal Monga

Hepatology. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Hepatology. 2018 Jun; 67(6): 2320–2337. Published online 2018 Apr 19. doi: 10.1002/hep.29585

PMCID:: PMC5893443

Abstract Article PDF–1.0M

Select item 526658717.

ATP11C Targets Basolateral Bile Salt Transporter Proteins in Mouse Central Hepatocytes

Dirk R. de Waart, Jyoti Naik, Karina S. Utsunomiya, Suzanne Duijst, Kam Ho-Mok, A. Ruth Bolier, Johan Hiralall, Laura N. Bull, Piter J. Bosma, Ronald P.J. Oude Elferink, Coen C. Paulusma

Hepatology. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Hepatology. 2016 Jul; 64(1): 161–174. Published online 2016 Apr 6. doi: 10.1002/hep.28522

PMCID:: PMC5266587

Abstract Article PDF–1.4M

Select item 489172218.

Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3

Hyo Jin Park, Tae Hee Kim, So Won Kim, Shin Hye Noh, Kyeong Jee Cho, Choe Choi, Eun Young Kwon, Yang Ji Choi, Heon Yung Gee, Ji Ha Choi

Sci Rep. 2016; 6: 26872. Published online 2016 Jun 3. doi: 10.1038/srep26872

PMCID:: PMC4891722

Abstract Article PDF–1.0M

Select item 484501919.

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

Abstract Article PDF–1.4M

Select item 429230720.

Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3

Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen

World J Gastroenterol. 2015 Jan 14; 21(2): 699–703. Published online 2015 Jan 14. doi: 10.3748/wjg.v21.i2.699

PMCID:: PMC4292307

Abstract Article PDF–1.2M

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