Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Hum Mol Genet. 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. PMID: 34170319.
Li Y, Zhou P#, Zheng S, Liao C, Yang M, Gao S, Wang X, Chen Y, Sun C, Luo R, Huang Y, Li N, Hu H#. An efficient cell culture system for the studies of heterogeneous astrocytes: Time gradient digestion. J Neurosci Methods. 2021 Oct 1;362:109292. doi: 10.1016/j.jneumeth.2021.109292. Epub 2021 Jul 22. PMID: 34302861.
Sun J, Lin W, Li C, Ueki H, Xue R, Sadahira T, Hu H, Wada K, Li N, Liu C, Araki M, Xu A, Huang P. Repurposing of posaconazole as a hedgehog/SMO signaling inhibitor for embryonal rhabdomyosarcoma therapy. Am J Cancer Res. 2021 Sep 15;11(9):4528-4540. PMID: 34659903.
Li N*, Zhou P*, Yang M*, Fang X, Krämer N, Mughal TA, Abbasi AA, Yang Y, Kaindl AM, Hu H#. Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation. Clin Genet. 2021 Aug;100(2):144-155. doi: 10.1111/cge.13965. Epub 2021 Apr 18. PMID: 33834495.
Gamallat Y*, Fang X*, Mai H, Liu X, Li H, Zhou P, Han D, Zheng S, Liao C, Yang M, Li Y, Zuo L, Sun L, Hu H#, Li N#. Bi-allelic mutation in Fsip1 impairs acrosome vesicle formation and attenuates flagellogenesis in mice. Redox Biol. 2021 Jul;43:101969. doi: 10.1016/j.redox.2021.101969. Epub 2021 Apr 16. PMID: 33901807.
Fang X*, Gamallat Y*, Chen Z, Mai H, Zhou P, Sun C, Li X, Li H, Zheng S, Liao C, Yang M, Li Y, Yang Z, Ma C, Han D, Zuo L, Xu W, Hu H, Sun L#, Li N#. Hypomorphic and hypermorphic mouse models of Fsip2 indicate its dosage-dependent roles in sperm tail and acrosome formation. Development. 2021 Jun 1;148(11):dev199216. doi: 10.1242/dev.199216. Epub 2021 Jun 14. PMID: 34125190.
Sun C, Li B, Yang M, Guo R, Yuan S, Wang J, Hu H. Generation of GPAM knockout human embryonic stem cell line SYSUe-008-A using CRISPR/Cas9. Stem Cell Res. 2021 May;53:102303. doi: 10.1016/j.scr.2021.102303. Epub 2021 Mar 19. PMID: 33831647.
Zhou P, Qi Y, Fang X, Yang M, Zheng S, Liao C, Qin F, Liu L, Li H, Li Y, Ravindran E, Sun C, Wei X, Wang W, Fang L, Han D, Peng C, Chen W, Li N, Kaindl AM, Hu H#. Arhgef2 regulates neural differentiation in the cerebral cortex through mRNA m6A-methylation of Npdc1 and Cend1. iScience. 2021 May 24;24(6):102645. doi: 10.1016/j.isci.2021.102645. PMID: 34142067.
Beheshtian M, Akhtarkhavari T, Mehvari S, Mohseni M, Fattahi Z, Abedini SS, Arzhangi S, Fadaee M, Jamali P, Najafipour R, Kalscheuer VM, Hu H, Ropers HH, Najmabadi H, Kahrizi K. Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clin Genet. 2021 Jan;99(1):187-192. doi: 10.1111/cge.13845. Epub 2020 Sep 14. PMID: 32895917.
Extramural funds
Natural Science Foundation of Guangdong Province of China (No.2022A1515010613), 2022.1-2024.12, ￥100,000
National Natural Science Foundation of China (No.82001121), 2021.1-2023.12, ￥240,000
National Natural Science Foundation of China (No.81974163), 2020.1-2023.12, ￥600,000
China Postdoctoral Science Foundation (No.2019M662852), 2019.9-2021.9, ￥80,000
Outstanding Scientists Foundation of Guangzhou China, 2019.1-2023.12, ￥1,250,000
Natural Science Foundation of Guangdong Province of China (No.2018A030313538), 2018.5-2021.4, ￥100,000
National Natural Science Foundation of China (No.81701451), 2018.1-2021.12, ￥200,000
Guangzhou Science and Technology Program (No.201704020209), 2017.5-2020.4, ￥1,000,000
National Natural Science Foundation of China (No.81671067), 2017.1-2021.12, ￥610,000
National Natural Science Foundation of China (No.81672253), 2017.1-2021.12, ￥570,000
Major Medical Collaboration and Innovation Program of Guangzhou Science Technology and Innovation Commission
(No.201604020020), 2015.10-2018.09, ￥4,500,000
