New insights into the roles for DYRK family in mammalian development and congenital diseases  

作　　者：Saishu Yoshida Kiyotsugu Yoshida 

机构地区：[1]Department of Biochemistry,The Jikei University School of Medicine,Minato-ku,Tokyo 1058461,Japan

出　　处：《Genes & Diseases》2023年第3期758-770,共13页基因与疾病（英文）

基　　金：supported by JSPS KAKENHI(No.21K06192 to S.Y.and 17H03584,18K19484,and 20H03519 to K.Y.);the Jikei University Research Fund(to K.Y.);the Takeda Science Foundation(to S.Y.);the Uehara Memorial Foundation(to S.Y.and K.Y.).

摘　　要：The dual-specificity tyrosine-regulated kinase (DYRK) family is evolutionarily conserved from invertebrate to mammals. DYRKs regulate cell proliferation, apoptosis, survival, and differentiation by modifying the protein activation state, cellular localization, and turnover. In contrast to several studies in cellular models, the available evidence regarding the in vivo roles of DYRKs in mammalian development is limited. This review summarizes the in vivo studies on Dyrks which provide insight into their roles in mammalian tissue development and congenital diseases. In vivo evidence obtained using knockout and genetically modified animals helps to understand and develop novel clinical therapies and drug for human congenital diseases, such as Down syndrome and neuronal disorders (associated with DYRK1A) and skeletal ciliopathies (associated with DYRK2).

关 键 词：CILIOPATHIES Development Down syndr ome DYRKS EMBRYOGENESIS 

分 类 号：R321[医药卫生—人体解剖和组织胚胎学]