國家衛生研究院 NHRI:Item 3990099045/12012
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    题名: Plectin mutations in progressive familial intrahepatic cholestasis
    作者: Wu, SH;Hsu, JS;Chen, HL;Chien, MM;Wu, JF;Ni, YH;Liou, BY;Ho, MC;Jeng, YM;Chang, MH;Chen, PL;Chen, HL
    贡献者: Institute of Molecular and Genomic Medicine
    摘要: 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.
    日期: 2019-12
    關聯: 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
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