|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | De Novo and Inherited SETD1A Variants in Early-onset Epilepsy显示文摘Early-onset epilepsy is a neurological abnormality in childhood, and it is especially common in the first2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain, and the genetic causes of idiopathic seizures have been extensively investigated. In this study, we identified four missense mutations in the SETD1 A gene(SET domain-containing 1 A, histone lysine methyltransferase): three de novo mutations in three individuals and one inherited mutation in a four-generation family. Whole-exome sequencing indicated that all four of these mutations were responsible for the seizures. Mutations of SETD1 A have been implicated in schizophrenia and developmental disorders, so we examined the role of the four mutations(R913 C, Q269 R, G1369 R, and R1392 H) in neural development. We found that their expression in mouse primary cortical neurons affected excitatory synapse development. Moreover, expression of the R913 C mutation also affected the migration of cortical neurons in the mouse brain.We further identified two common genes(Neurl4 and Usp39) affected by mutations of SETD1 A. These results suggested that the mutations of SETD1 A play a fundamental role in abnormal synaptic function and the development of neurons, so they may be pathogenic factors for neurodevelopmental disorders. | Xiuya Yu Lin Yang Jin Li Wanxing Li Dongzhi Li Ran Wang Kai Wu Wenhao Chen Yi Zhang Zilong Qiu Wenhao Zhou | 2019 | Neuroscience Bulletin2019，35，6： | 4 |
| 2 | Research on Composting and Substrate Utilization of Garden Waste显示文摘[Objectives]This study was conducted to investigate how to use garden waste resources.[Methods]With garden waste as a raw material for composting treatment,the effects of adding starters on the decomposing effects of garden waste were investigated,and the changes in temperature and microorganisms during the decomposing process were analyzed.On this basis,the compost products were used to partially replace peat to make pepper seedling substrates,so as to further confirm the possibility of the use of compost products as substrates.[Results]Adding organic material starter or biological bacterial fertilizer starter could help garden waste to decompose and accelerate the composting process;and making seedling substrates by using garden waste compost products to partially replace peat could significantly improve the emergence rate,strong seedling index and fresh weight of pepper.The compost products fermented with the two kinds of starters had better substitution effects and higher seedling quality indexes.[Conclusions]This study provides a scientific basis for the substrate utilization of garden waste. | Jiaomeng ZHANG Mei CHEN Mengyao ZHU Wenwen YU Junchi YAO Xiuya XU Xuqin REN | 2021 | Agricultural Biotechnology2021，10，4： | 0 |
| 3 | A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development显示文摘Dear Editor,The V-MYC avian myelocytomatosis viral-related oncogene, a neuroblastoma-derived gene (MYCN, MIM:164840) located on chromosome 2p24, was previously found to be associated with Feingold syndrome 1(FGLDS1, MIM:164280)[1]. FGLDS1 is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal | Xiuya Yu Liyuan Hu Xu Liu Guodong Zhan Mei Mei Huijun Wang Xiaohua Zhang Zilong Qiu Wenhao Zhou Lin Yang | 2018 | Neuroscience Bulletin2018，34，5： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员