何瑾 助理研究员
硕士生导师
联系邮箱：hejin@fjmu.edu.cn、[email protected]
个人简介
何瑾，女，硕士生导师。熟女a片 神经病学专业获博士学位。获福建省高层次人才C类。
研究领域
1.遗传性神经系统的发病机制研究
2.遗传性周围神经病的代谢机制与干预研究
主持/参与的项目
1.国家自然科学基金，青年项目，腓骨肌萎缩症1A（CMT1A）PMP22基因启动区域的调控研究，81500980，21万元，2016.1-2018.12，主持，结题；
2.福建省科技创新联合资金项目，引领项目，丝氨酰tRNA合成酶基因突变在腓骨肌萎缩症中的致病研究，2021Y9113,15万元，2022.10-2025.10，主持，在研；
3.国家自然科学基金，面上项目，氨酰tRNA合成酶基因突变介导蛋白合成异常参与腓骨肌萎缩症的致病机制研究，82271412,52万元，2023.1-2026.12，主持，在研
科研成果
1. He J*, Liu XX, Ma MM, Lin JJ, Fu J, Chen YK, Xu GR, Xu LQ, Fu ZF, Xu D, Chen WF, Cao CY, Shi Y, Zeng YH, Zhang J, Chen XC, Zhang RX, Wang N, Kennerson M, Fan DS*, Chen WJ*. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease. Ann Neurol. 2023 Feb;93(2):244-256.
2.Liu XX, Wang N, Chen YK, Lv WQ, Hong JM, Xu GR, Zhou LY, Chen WJ, Fan DS, He J*. Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families. Brain. 2023 May 2;146(5):e27-e30.
3.Chen Y, Shi Y, Gao Y, Hu Y, Zhou L, Hong J, Gan S, Lin X, Chen W, Xu G, He J*. Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China. Genes Dis. 2023 Oct 16;11(5):101140.
4.Yuan RY, Ye ZL, Zhang XR, Xu LQ, He J*. Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. Ann Clin Transl Neurol. 2021 Jan;8(1):266-270.
5. He J*, Guo L, Lin S, Chen W, Xu G, Cai B, Xu L, Hong J, Qiu L, Wang N, Chen W. ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease. Hum Mutat. 2019 Dec;40(12):2334-2343.
6.Lin Y, Zeng YF, Cai NQ, Lin XZ, Wang N, He J*. Analysis of Exon Dosage Using Multiplex Ligation-Dependent Probe Amplification in Chinese Patients with Early-Onset Parkinson's Disease. Eur Neurol. 2019;81(5-6):246-253.
7. He J*, Guo L, Xu G, Xu L, Lin S, Chen W, Wang N. Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2018 Dec;23(4):216-226.
8. He J*, Lin H, Li JJ, Su HZ, Wang DN, Lin Y, Wang N, Chen WJ. Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. Chin Med J (Engl). 2018 Jul 5;131(13):1575-1583.
9.Wang R, He J(co-first)*, Li JJ, Ni W, Wu ZY, Chen WJ, Wang Y. Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. Clin Chim Acta. 2015 Dec 7;451(Pt B):263-70.
10.He J*, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N, Chen WJ. Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy. Gene. 2013 Apr 15;518(2):325-9.
（更新至2025年7月）
