國家衛生研究院 NHRI:Item 3990099045/12012
English  |  正體中文  |  简体中文  |  Items with full text/Total items : 12145/12927 (94%)
Visitors : 857817      Online Users : 835
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
Scope Tips:
  • please add "double quotation mark" for query phrases to get precise results
  • please goto advance search for comprehansive author search
    •  Adv. Search
    Home ‧ Login ‧ Upload ‧ Help ‧ About ‧ Administer Goto mobile version


    Please use this identifier to cite or link to this item: http://ir.nhri.org.tw/handle/3990099045/12012


    Title: Plectin mutations in progressive familial intrahepatic cholestasis
    Authors: Wu, SH;Hsu, JS;Chen, HL;Chien, MM;Wu, JF;Ni, YH;Liou, BY;Ho, MC;Jeng, YM;Chang, MH;Chen, PL;Chen, HL
    Contributors: Institute of Molecular and Genomic Medicine
    Abstract: Neonates and infants are susceptible to cholestatic liver diseases. At least six genes are causative for progressive familial intrahepatic cholestasis (PFIC), and more genetic defects are known to cause infant cholestasis.((1)) Approximately one-third of PFIC patients do not have mutations in these genes.((2)) The cytoskeleton linker plectin (PLEC) was recently found to protect the liver from cholestatic injuries in a liver-specific PLEC knockout (Plec(Deltaalb) ) mouse model.((3)) However, the PLEC mutation has not been reported in human PFIC patients. In this study, we report a pair of siblings who had severe cholestasis with compound heterozygous PLEC mutations.
    Date: 2019-12
    Relation: Hepatology. 2019 Dec;70(6):2221-2224.
    Link to: http://dx.doi.org/10.1002/hep.30841
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0270-9139&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000481719700001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85071228043
    Appears in Collections:[Others] Periodical Articles

    Files in This Item:

    File SizeFormat
    PUB31269534.pdf472KbAdobe PDF258View/Open


    All items in NHRI are protected by copyright, with all rights reserved.

    Related Items in TAIR

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - Feedback