日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.

RBM42 的双等位基因变异会导致多系统疾病,累及神经系统、面部、心脏和肌肉骨骼系统

Chen Yiyao, Yang Bingxin, Zhang Xiaoyu Merlin, Chen Songchang, Wang Minhui, Hu Liya, Pan Nina, Li Shuyuan, Shi Weihui, Yang Zhenhua, Wang Li, Tan Yajing, Wang Jian, Wang Yanlin, Xing Qinghe, Ma Zhonghua, Li Jinsong, Huang He-Feng, Zhang Jinglan, Xu Chenming

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

对母体血浆中胎儿和母体游离DNA进行基因解卷积,可实现下一代无创产前筛查

Xu, Chenming; Li, Jianli; Chen, Songchang; Cai, Xiaoqiang; Jing, Ruilin; Qin, Xiaomei; Pan, Dong; Zhao, Xin; Ma, Dongyang; Xu, Xiufeng; Liu, Xiaojun; Wang, Can; Yang, Bingxin; Zhang, Lanlan; Li, Shuyuan; Chen, Yiyao; Pan, Nina; Tang, Ping; Song, Jieping; Liu, Nian; Zhang, Chen; Zhang, Zhiwei; Qiu, Xiang; Lu, Weiliang; Ying, Chunmei; Li, Xiaotian; Xu, Congjian; Wang, Yanlin; Wu, Yanting; Huang, He-Feng; Zhang, Jinglan

Imperfect interface of Beclin1 coiled-coil domain regulates homodimer and heterodimer formation with Atg14L and UVRAG

Beclin1 卷曲螺旋结构域的不完美界面调节与 Atg14L 和 UVRAG 的同源二聚体和异源二聚体的形成

Xiaohua Li, Liqiang He, Ka Hing Che, Sarah F Funderburk, Lifeng Pan, Nina Pan, Mingjie Zhang, Zhenyu Yue, Yanxiang Zhao

Phosphorylation-dependent 14-3-3 binding to LRRK2 is impaired by common mutations of familial Parkinson's disease.

家族性帕金森病的常见突变会损害 14-3-3 与 LRRK2 的磷酸化依赖性结合

Li Xianting, Wang Qing Jun, Pan Nina, Lee Sangkyu, Zhao Yingming, Chait Brian T, Yue Zhenyu