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

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

剪接体基因SNW1的突变会导致伴有小头畸形的神经发育障碍

Ji, Lei; Yan, Jin; Losurdo, Nicole A; Wang, Hua; Liu, Liangjie; Li, Keyi; Liu, Zhen; Guo, Zhenming; Xu, Jing; Bibo, Adriana; Ren, Decheng; Yang, Ke; Luo, Yingying; Yang, Fengping; Wang, Gui; Xiang, Zhenglong; Wang, Yuan; Zhan, Huaizhe; Pan, Hu; Hu, Juanli; Zhong, Jianmin; Abou Jamra, Rami; Zacher, Pia; Musante, Luciana; Faletra, Flavio; Costa, Paola; Zanus, Caterina; Couque, Nathalie; Ruaud, Lyse; Cueto-González, Anna M; San Nicolas Fernández, Hector; Tizzano, Eduardo; Martinez Gil, Nuria; Liu, Xiaorong; Liao, Weiping; Abi Farraj, Layal; Huang, Alden Y; Zhang, Liying; Murali, Aparna; Schmuel, Esther; Han, Christina S; King, Kayla; Gu, Weiyue; Wang, Pengchao; Li, Kai; Link, Nichole; He, Guang; Bian, Shan; Mao, Xiao

Health impacts of asphalt emissions: Examining neurological risks and the need for long-term exposure mitigation

沥青排放物对健康的影响:探讨神经系统风险及长期暴露缓解的必要性

Fini, Elham H; Pahlavan, Farideh; Vega, Natalie Ortiz; Bibo, Adriana; Kaur, Harpreet; Ghasemi, Hamid; Aldagari, Sand; Hung, Albert; Kannan, Latha; Yazdani, Hessam; Zhai, R Grace; Link, Nichole; Ackerman-Biegasiewicz, Laura K G; Klein-Seetharaman, Judith

Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

在具有不完全外显率的家族和果蝇中,鉴定出 CNTN2 是 PIGA-CDG 的遗传修饰因子。

Thorpe, Holly J; Pedersen, Brent S; Dietze, Miranda; Link, Nichole; Quinlan, Aaron R; Bonkowsky, Joshua L; Thomas, Ashley; Chow, Clement Y

Loss of Neuronal Imp Contributes to Seizure Behavior through Syndecan Function.

神经元活性丧失通过聚糖蛋白聚糖的功能导致癫痫发作

Roy Paula R, Link Nichole

Molecular functions of ANKLE2 and its implications in human disease

ANKLE2的分子功能及其在人类疾病中的意义

Fishburn, Adam T; Florio, Cole J; Lopez, Nick J; Link, Nichole L; Shah, Priya S

Loss of neuronal Imp induces seizure behavior through Syndecan function

神经元Imp蛋白的缺失通过Syndecan蛋白的功能诱发癫痫发作行为。

Roy, Paula R; Link, Nichole

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila

通过对一个具有不完全外显率的家族进行系谱分析和果蝇功能测试,鉴定出 CNTN2 是 PIGA-CDG 的遗传修饰因子。

Thorpe, Holly J; Pedersen, Brent S; Dietze, Miranda; Link, Nichole; Quinlan, Aaron R; Bonkowsky, Joshua L; Thomas, Ashley; Chow, Clement Y

Drosophila as a Model for Infectious Diseases

果蝇作为传染病模型

Harnish, J Michael; Link, Nichole; Yamamoto, Shinya

Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases

利用果蝇来辅助诊断和了解罕见人类疾病的机制

Link, Nichole; Bellen, Hugo J

Drosophila p53 directs nonapoptotic programs in postmitotic tissue

果蝇p53指导有丝分裂后组织中的非凋亡程序

Kurtz, Paula; Jones, Amanda E; Tiwari, Bhavana; Link, Nichole; Wylie, Annika; Tracy, Charles; Krämer, Helmut; Abrams, John M