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Select item 70157211.

New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

Chun-Shan Wei, Naja Becher, Jenny Blechingberg Friis, Peter Ott, Ida Vogel, Henning Grønbæk

World J Gastroenterol. 2020 Feb 7; 26(5): 550–561. Published online 2020 Feb 7. doi: 10.3748/wjg.v26.i5.550

PMCID:: PMC7015721

Abstract Article PDF–502K

Select item 73422232.

Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation

Nida Mirza, Ravi Bharadwaj, Smita Malhotra, Anupam Sibal

BMJ Case Rep. 2020; 13(7): e234193. Published online 2020 Jul 6. doi: 10.1136/bcr-2019-234193

PMCID:: PMC7342223

Abstract Article PDF–186K

Select item 84216533.

Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients

Jia Tang, Meihua Tan, Yihui Deng, Hui Tang, Haihong Shi, Mingzhen Li, Wei Ma, Jia Li, Hongzheng Dai, Jianli Li, Shengmei Zhou, Xu Li, Fengxiang Wei, Xiaofen Ma, Liangping Luo

Front Cell Dev Biol. 2021; 9: 661599. Published online 2021 Aug 24. doi: 10.3389/fcell.2021.661599

PMCID:: PMC8421653

Abstract Article PDF–2.7M

Select item 106560384.

A Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review

Hana Halabi, Khawla Kalantan, Warif Abdulhaq, Habeib Alshaibi, Mohammed A Almatrafi

Cureus. 2023 Oct; 15(10): e47276. Published online 2023 Oct 18. doi: 10.7759/cureus.47276

PMCID:: PMC10656038

Abstract Article PDF–705K

Select item 107123805.

Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant

Samira Al Housni, Khalid Al-Thihli, Dafalla Rahmatalla, Yasser Wali, Yusriya Al Rawahi

Sultan Qaboos Univ Med J. 2023 Nov; 23(4): 543–546. Published online 2023 Nov 30. doi: 10.18295/squmj.8.2022.052

PMCID:: PMC10712380

Abstract Article PDF–483K

Select item 113801916.

Progressive familial intrahepatic cholestasis type 4: a case report

Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb

J Med Case Rep. 2024; 18: 434. Published online 2024 Sep 7. doi: 10.1186/s13256-024-04662-5

PMCID:: PMC11380191

Abstract Article PDF–1.0M

Select item 105312127.

Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis

Anna Maria Kavallar, Christoph Mayerhofer, Denise Aldrian, Tatsuya Okamoto, Thomas Müller, Georg Friedrich Vogel

Hepatol Commun. 2023 Oct; 7(10): e0286. Published online 2023 Sep 27. doi: 10.1097/HC9.0000000000000286

PMCID:: PMC10531212

Abstract Article PDF–805K

Select item 87272168.

Newer variants of progressive familial intrahepatic cholestasis

Vignesh Vinayagamoorthy, Anshu Srivastava, Moinak Sen Sarma

World J Hepatol. 2021 Dec 27; 13(12): 2024–2038. Published online 2021 Dec 27. doi: 10.4254/wjh.v13.i12.2024

PMCID:: PMC8727216

Abstract Article PDF–1.0M

Select item 32816249.

Effects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4

Julien Gautherot, Anne-Marie Durand-Schneider, Danièle Delautier, Jean-Louis Delaunay, Alegna Rada, Julie Gabillet, Chantal Housset, Michèle Maurice, Tounsia Aït-Slimane

J Biol Chem. 2012 Feb 10; 287(7): 5070–5078. Published online 2011 Dec 19. doi: 10.1074/jbc.M111.275438

PMCID:: PMC3281624

Abstract Article PDF–3.6M

Select item 2937310.

Targeted inactivation of sister of P-glycoprotein gene (spgp) in mice results in nonprogressive but persistent intrahepatic cholestasis

Renxue Wang, Myriam Salem, Ibrahim M. Yousef, Beatriz Tuchweber, Ping Lam, Sarah J. Childs, Cheryl D. Helgason, Cameron Ackerley, M. James Phillips, Victor Ling

Proc Natl Acad Sci U S A. 2001 Feb 13; 98(4): 2011–2016. Published online 2001 Feb 6. doi: 10.1073/pnas.031465498

PMCID:: PMC29373

Abstract Article PDF–222K

Select item 1140792811.

Abcb4-defect cholangitis mouse model with hydrophobic bile acid composition by in vivo liver-specific gene deletion

Kota Tsuruya, Keiko Yokoyama, Yusuke Mishima, Kinuyo Ida, Takuma Araki, Satsuki Ieda, Masato Ohtsuka, Yutaka Inagaki, Akira Honda, Tatehiro Kagawa, Akihide Kamiya

J Lipid Res. 2024 Sep; 65(9): 100616. Published online 2024 Aug 5. doi: 10.1016/j.jlr.2024.100616

PMCID:: PMC11407928

Abstract Article PDF–4.2M

Select item 653122212.

Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature

Ben-Ping Zhang, Zhi-Hua Huang, Chen Dong

Medicine (Baltimore) 2019 May; 98(19): e15593. Published online 2019 May 13. doi: 10.1097/MD.0000000000015593

PMCID:: PMC6531222

Abstract Article PDF–531K

Select item 652606113.

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 649143414.

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

Abstract Article PDF–4.5M

Select item 648033715.

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 633932616.

Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang, Ting Zhang

BMC Med Genet. 2019; 20: 18. Published online 2019 Jan 18. doi: 10.1186/s12881-019-0753-7

PMCID:: PMC6339326

Abstract Article PDF–2.4M

Select item 631426517.

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