國家衛生研究院 NHRI:Item 3990099045/9535
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    題名: Haploinsufficiency of RCBTB1 is associated with coats disease and familial exudative vitreoretinopathy
    作者: Wu, JH;Liu, JH;Ko, YC;Wang, CT;Chung, YC;Chu, KC;Liu, TT;Chao, HM;Jiang, YJ;Chen, SJ;Chung, MY
    貢獻者: Institute of Molecular and Genomic Medicine
    摘要: Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP, and ZNF408. In this study, we identified two heterozygous frameshift mutations in RCBTB1 from three Taiwanese cases through exome sequencing. In patient-derived lymphoblastoid cell lines (LCLs), the protein level of RCBTB1 is approximately half that of unaffected control LCLs, which is indicative of a haploinsufficiency mechanism. By employing transient transfection and reporter assays for the transcriptional activity of beta-catenin, we demonstrated that RCBTB1 participates in the Norrin/FZD4 signaling pathway and that knockdown of RCBTB1 by shRNA significantly reduced nuclear accumulation of pound]-catenin under Norrin and Wnt3a treatments. Furthermore, transgenic fli1:EGFP zebrafish with rcbtb1 knockdown exhibited anomalies in intersegmental and intraocular vessels. These results strongly support that reduced RCBTB1 expression may lead to defects in angiogenesis through the Norrin-dependent Wnt pathway, and that RCBTB1 is a putative genetic cause of vitreoretinopathies.
    日期: 2016-04
    關聯: Human Molecular Genetics. 2016 Apr;25(8):1637-1647.
    Link to: http://dx.doi.org/10.1093/hmg/ddw041
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0964-6906&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000374231400014
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84963752860
    顯示於類別:[江運金] 期刊論文

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