典型文献
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy
文献摘要：
Familial exudative vitreoretinopathy(FEVR),an inherited eye dis-ease,is characterized by abnormal retinal vascular development,such as neovascularization,vitreous hemorrhage,exudation,and retinal detachment(Criswick and Schepens,1969;Robitaille et al.,2002).FEVR is inherited as autosomal dominant,autosomal reces-sive,and X-linked patterns(de Crecchio et al.,1998).To date,13 genes and 1 locus have been identified to associate with FEVR,including atonal homolog 7(ATOH7),caten in alpha 7(CTNNA1),cat-enin beta 1(CTNNB1),exudative vitreoretinopathy 3(EVR3)on chro-mosome 11p12-13,frizzled 4(FZD4),integrin-linked kinase(ILK),jagged canonical Notch ligand 1(JAG7),kinesin family member 11(KIF11),low-density lipoprotein receptor-related protein 5(LRP5),Norrin(NDP),RCC1 and BTB domain-containing protein 7(RCBTB1),tetraspanin-12(TSPAN12),zinc finger protein 408(ZNF408),and discs large MAGUK scaffold protein 7(DLG1)(Chen et al.,1993;Robitaille et al.,2002;Junge et al.,2009;Panagiotou et al.,2017;Zhang et al.,2021;Zhu et al.,2021).
文献关键词：
中图分类号：
作者姓名：
Shujin Li;Mu Yang;Yunqi He;Xiaoyan Jiang;Rulian Zhao;Wenjing Liu;Lulin Huang;Yi Shi;Xiao Li;Kuanxiang Sun;Yeming Yang;Periasamy Sundaresan;Peiquan Zhao;Zhenglin Yang;Xianjun Zhu
作者机构：
Sichuan Provincial Key Laboratory for Human Disease Gene Study,Center for Medical Genetics,Sichuan Provincial People's Hospital,University of Electronic Science and Technology of China,Chengdu,Sichuan 610072,China;Natural Products Research Center,Institute of Chengdu Biology,Sichuan Translational Medicine Hospital,Chinese Academy of Sciences,Chengdu,Sichuan 610072,China;Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026),Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital,Chengdu,Sichuan 610072,China;Department of Genetics,Aravind Medical Research Foundation,Aravind Eye Hospital,Madurai,India;Department of Ophthalmology,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China;Henan Eye Institute,Henan Eye Hospital,People's Hospital of Zhengzhou University,Henan Provincial People's Hospital,Zhengzhou,Henan 450003,China
文献出处：
引用格式：
[1]Shujin Li;Mu Yang;Yunqi He;Xiaoyan Jiang;Rulian Zhao;Wenjing Liu;Lulin Huang;Yi Shi;Xiao Li;Kuanxiang Sun;Yeming Yang;Periasamy Sundaresan;Peiquan Zhao;Zhenglin Yang;Xianjun Zhu-.Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy)[J].遗传学报,2022(06):590-594
A类：
Criswick,Schepens,Robitaille,Crecchio,atonal,ATOH7,caten,enin,EVR3,11p12,jagged,JAG7,Norrin,RCC1,RCBTB1,ZNF408,MAGUK,Panagiotou
B类：
Variants,Wnt,receptor,LRP6,are,associated,familial,exudative,vitreoretinopathy,Familial,FEVR,inherited,eye,ease,characterized,by,abnormal,retinal,development,such,neovascularization,vitreous,hemorrhage,exudation,detachment,autosomal,dominant,reces,sive,linked,patterns,To,date,genes,locus,have,been,identified,including,homolog,alpha,CTNNA1,beta,CTNNB1,chro,mosome,frizzled,FZD4,integrin,kinase,ILK,canonical,Notch,ligand,kinesin,family,member,KIF11,low,density,lipoprotein,related,LRP5,NDP,domain,containing,tetraspanin,TSPAN12,zinc,finger,discs,large,scaffold,DLG1,Chen,Junge,Zhang,Zhu
AB值：
0.518959
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机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
