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Publication Name World Journal of Gastroenterology
Manuscript ID 51702
Country of Manuscript Source Denmark
2019-11-18 10:06
Peer-Review Started
2019-11-18 10:07
To Make the First Decision
Return for Revision
2019-12-23 14:34
2020-01-12 17:04
Second Decision
2020-01-18 08:34
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-01-18 18:45
Articles in Press
2020-01-18 18:45
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2020-02-05 05:51
Publish the Manuscript Online
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
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Specialty Gastroenterology and 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
Manuscript Source Invited Manuscript
All Author List Chun-Shan Wei, Naja Becher, Jenny Blechingberg Friis, Peter Ott, Ida Vogel and Henning Grønbæk
Author(s) ORCID Number
Chun-Shan Wei http://orcid.org/0000-0002-3960-4069
Naja Becher http://orcid.org/0000-0003-1264-1940
Jenny Blechingberg Friis http://orcid.org/0000-0002-4110-7459
Peter Ott http://orcid.org/0000-0002-3088-1983
Ida Vogel http://orcid.org/0000-0002-1125-0393
Henning Grønbæk http://orcid.org/0000-0001-8998-7910
Funding Agency and Grant Number
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
Keywords 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
Full Article (PDF) WJG-26-550.pdf
Full Article (Word) WJG-26-550.docx
Manuscript File 51702-Review.docx
Answering Reviewers 51702-Answering reviewers.pdf
Audio Core Tip 51702-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 51702-Conflict-of-interest statement.pdf
Copyright License Agreement 51702-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 51702-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 51702-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 51702-Language certificate.pdf
Peer-review Report 51702-Peer-review(s).pdf
Scientific Misconduct Check 51702-Scientific misconduct check.pdf
Scientific Editor Work List 51702-Scientific editor work list.pdf