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Articles Published Processes
2/7/2020 1:14:55 PM | Browse: 1081 | Download: 2170
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Received |
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2019-11-18 10:06 |
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Peer-Review Started |
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2019-11-18 10:07 |
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First Decision by Editorial Office Director |
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2019-12-23 14:34 |
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Return for Revision |
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2019-12-23 14:34 |
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Revised |
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2020-01-12 17:04 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2020-01-18 08:34 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2020-01-18 18:45 |
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Articles in Press |
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2020-01-18 18:45 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2020-02-05 05:51 |
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Publish the Manuscript Online |
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2020-02-07 13:14 |
| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Case Report |
| Article Title |
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Chun-Shan Wei, Naja Becher, Jenny Blechingberg Friis, Peter Ott, Ida Vogel and Henning Grønbæk |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Henning Grønbæk, MD, PhD, Professor, Department of Clinical Medicine - Department of Hepatology and Gastroenterology, Aarhus University Hospital, 99 Palle Juul-Jensens Boulevard, Entrance C, Level 1, C116, Aarhus N DK-8200, Denmark. henngroe@rm.dk |
| Key Words |
Progressive familial intrahepatic cholestasis; Tight junction protein 2; Genetic variants; Liver cirrhosis; Liver cancer; Case report |
| Core Tip |
We report a family with progressive familiar intrahepatic cholestasis type-4 (PFIC4) with a novel variant in the tight junction protein-2 gene. The five homozygous children have highly variable expression of PFIC4. Two brothers presented with cirrhosis, portal hypertension and hepatocellular carcinoma at ages 19 and 36. Two other homozygous brothers and a sister (age 19-23) have elevated liver enzymes without cirrhosis. Furthermore, five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the tight junction protein-2 variant in homozygous and heterozygous states, respectively. Close monitoring for cirrhosis and hepatocellular carcinoma development is warranted in PFIC4 syndrome. |
| Publish Date |
2020-02-07 13:14 |
| Citation |
Wei CS, Becher N, Friis JB, Ott P, Vogel I, Grønbæk H. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. World J Gastroenterol 2020; 26(5): 550-561 |
| URL |
https://www.wjgnet.com/1007-9327/full/v26/i5/550.htm |
| DOI |
https://dx.doi.org/10.3748/wjg.v26.i5.550 |
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