2篇
您的检索式：作者名="Ruolan Cai"
|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China显示文摘Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. | Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li | 2022 | Journal of Genetics and Genomics2022，49，1： | 7 |
| 2 | Induction of Anxiety-Like Phenotypes by Knockdown of Cannabinoid Type-1 Receptors in the Amygdala of Marmosets显示文摘The amygdala is an important hub for regulating emotions and is involved in the pathophysiology of many mental diseases,such as depression and anxiety.Meanwhile,the endocannabinoid system plays a crucial role in regulating emotions and mainly functions through the cannabinoid type-1 receptor(CB1R),which is strongly expressed in the amygdala of non-human primates(NHPs).However,it remains largely unknown how the CB1Rs in the amygdala of NHPs regulate mental diseases.Here,we investigated the role of CB1R by knocking down the cannabinoid receptor 1(CNR1)gene encoding CB1R in the amygdala of adult marmosets through regional delivery of AAV-SaCas9-gRNA.We found that CB1R knockdown in the amygdala induced anxiety-like behaviors,including disrupted night sleep,agitated psychomotor activity in new environments,and reduced social desire.Moreover,marmosets with CB1R-knockdown had up-regulated plasma cortisol levels.These results indicate that the knockdown of CB1Rs in the amygdala induces anxiety-like behaviors in marmosets,and this may be the mechanism underlying the regulation of anxiety by CB1Rs in the amygdala of NHPs. | Lin Zhu Di Zheng Rui Li Chen-Jie Shen Ruolan Cai Chenfei Lyu Binliang Tang Hao Sun Xiaohui Wang Yu Ding Bin Xu Guoqiang Jia Xinjian Li Lixia Gao Xiao-Ming Li | 2023 | Neuroscience Bulletin2023，39，11： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员