PMC Articles for MedGen (Select 1809292) - PMC

Select item 108585761.

Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2

Hiroki Kondou, Satoshi Nakano, Tadahaya Mizuno, Kazuhiko Bessho, Yasuhiro Hasegawa, Atsuko Nakazawa, Ken Tanikawa, Yoshihiro Azuma, Tatsuya Okamoto, Ayano Inui, Kazuo Imagawa, Mureo Kasahara, Yoh Zen, Mitsuyoshi Suzuki, Hisamitsu Hayashi

Orphanet J Rare Dis. 2024; 19: 57. Published online 2024 Feb 10. doi: 10.1186/s13023-024-03080-6

PMCID:: PMC10858576

Article PDF–1.3M

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

Article PDF–2.1M

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 86738575.

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

Article PDF–570K

Select item 83113866.

A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant

Irena Jankowska, Joanna Pawłowska, Marek Szymczak, Hor Ismail, Dorota Broniszczak, Joanna Cielecka-Kuszyk, Piotr Socha, Dorota Jarzębicka, Piotr Czubkowski

Am J Case Rep. 2021; 22: e932374-1–e932374-7. Published online 2021 Jul 20. doi: 10.12659/AJCR.932374

PMCID:: PMC8311386

Article PDF–804K

Select item 82388427.

Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms

Duc-Hung Pham, Ramesh Kudira, Lingfen Xu, C. Alexander Valencia, Jillian L. Ellis, Tiffany Shi, Kimberley J. Evason, Immaculeta Osuji, Nelson Matuschek, Liva Pfuher, Mary Mullen, Sujit K. Mohanty, Ammar Husami, Laura N. Bull, Kejian Zhang, Sami Wali, Chunyue Yin, Alexander Miethke

Gastroenterology. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Gastroenterology. 2021 Jul; 161(1): 287–300.e16. Published online 2021 Mar 23. doi: 10.1053/j.gastro.2021.03.026

PMCID:: PMC8238842

Article PDF–2.9M

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 68638199.

Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis

Satoshi Nakano, Shuhei Osaka, Yusuke Sabu, Kei Minowa, Saeko Hirai, Hiroki Kondou, Takeshi Kimura, Yoshihiro Azuma, Satoshi Watanabe, Ayano Inui, Kazuhiko Bessho, Hidefumi Nakamura, Hironori Kusano, Atsuko Nakazawa, Ken Tanikawa, Masayoshi Kage, Toshiaki Shimizu, Hiroyuki Kusuhara, Yoh Zen, Mitsuyoshi Suzuki, Hisamitsu Hayashi

Sci Rep. 2019; 9: 17075. Published online 2019 Nov 19. doi: 10.1038/s41598-019-53628-x

PMCID:: PMC6863819

Article PDF–2.5M

Select item 649143410.

Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models

Virginie Vauthier, Amel Ben Saad, Jonathan Elie, Nassima Oumata, Anne-Marie Durand-Schneider, Alix Bruneau, Jean-Louis Delaunay, Chantal Housset, Tounsia Aït-Slimane, Laurent Meijer, Thomas Falguières

Sci Rep. 2019; 9: 6653. Published online 2019 Apr 30. doi: 10.1038/s41598-019-43111-y

PMCID:: PMC6491434

Article PDF–4.5M

Select item 622447211.

Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature

You-Wen Tan, Hai-Lei Ji, Zhong-Hua Lu, Guo-Hong Ge, Li Sun, Xin-Bei Zhou, Jian-Hui Sheng, Yu-Hua Gong

World J Gastroenterol. 2018 Nov 7; 24(41): 4716–4720. Published online 2018 Nov 7. doi: 10.3748/wjg.v24.i41.4716

PMCID:: PMC6224472

Article PDF–1.3M

Select item 458828512.

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 429230713.

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

Article PDF–1.2M

Select item 410584114.

Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1

Yasuhiro Hasegawa, Hisamitsu Hayashi, Sotaro Naoi, Hiroki Kondou, Kazuhiko Bessho, Koji Igarashi, Kentaro Hanada, Kie Nakao, Takeshi Kimura, Akiko Konishi, Hironori Nagasaka, Yoko Miyoshi, Keiichi Ozono, Hiroyuki Kusuhara

Orphanet J Rare Dis. 2014; 9: 89. Published online 2014 Jul 15. doi: 10.1186/1750-1172-9-89

PMCID:: PMC4105841

Article PDF–1.5M

Select item 341605015.

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 1820116.

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

J. Marleen L. de Vree, Emmanuel Jacquemin, Ekkehard Sturm, Danièle Cresteil, Piter J. Bosma, Jan Aten, Jean-François Deleuze, Marc Desrochers, Martin Burdelski, Olivier Bernard, Ronald P. J. Oude Elferink, Michelle Hadchouel

Proc Natl Acad Sci U S A. 1998 Jan 6; 95(1): 282–287. doi: 10.1073/pnas.95.1.282

PMCID:: PMC18201

Article PDF–594K

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