Duan R - Search Results

1

Live-cell superresolution pathology reveals different molecular mechanisms of pelizaeus-merzbacher disease.

Zheng X, Duan R, Li L, Xing S, Ji H, Yan H, Gao K, Wang J, Wang J, Chen L. Zheng X, et al. Among authors: duan r. Sci Bull (Beijing). 2020 Dec 30;65(24):2061-2064. doi: 10.1016/j.scib.2020.08.016. Epub 2020 Aug 11. Sci Bull (Beijing). 2020. PMID: 36732956 Free article. No abstract available.

2

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Yan H, Shi Z, Wu Y, Xiao J, Gu Q, Yang Y, Li M, Gao K, Chen Y, Yang X, Ji H, Cao B, Duan R, Jiang Y, Wang J. Yan H, et al. Among authors: duan r. BMC Med Genet. 2019 May 14;20(1):80. doi: 10.1186/s12881-019-0794-y. BMC Med Genet. 2019. PMID: 31088393 Free PMC article.

3

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. Among authors: duan r. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.

4

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.

Duan R, Li L, Yan H, He M, Gao K, Xing S, Ji H, Wang J, Cao B, Li D, Xie H, Zhao S, Wu Y, Jiang Y, Xiao J, Gu Q, Li M, Zheng X, Chen L, Wang J. Duan R, et al. Neuroscience. 2021 Nov 10;476:60-71. doi: 10.1016/j.neuroscience.2021.08.029. Epub 2021 Sep 9. Neuroscience. 2021. PMID: 34506833 Free article.

5

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, Shen Y, Pang N, Liu Y, Liang C, Qin Z, Luo J, Chen F, Wang J, Zhang Z, Wei H, Du J, Yan H, Duan R, Wang J, Zhang Y, Liao S, Sun K, Wu L, Yu Y. Sun Y, et al. Among authors: duan r. Hum Mutat. 2022 May;43(5):568-581. doi: 10.1002/humu.24347. Epub 2022 Mar 1. Hum Mutat. 2022. PMID: 35143101

6

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Duan R, Ji H, Yan H, Wang J, Zhang Y, Zhang Q, Li D, Cao B, Gu Q, Wu Y, Jiang Y, Li M, Wang J. Duan R, et al. Orphanet J Rare Dis. 2022 Mar 28;17(1):137. doi: 10.1186/s13023-022-02267-z. Orphanet J Rare Dis. 2022. PMID: 35346287 Free PMC article.

7

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.

Yan H, Yang S, Hou Y, Ali S, Escobar A, Gao K, Duan R, Kubisiak T, Wang J, Zhang Y, Xiao J, Jiang Y, Zhang T, Wu Y, Burmeister M, Wang Q, Cuajungco MP, Wang J. Yan H, et al. Among authors: duan r. Cells. 2022 Apr 9;11(8):1285. doi: 10.3390/cells11081285. Cells. 2022. PMID: 35455965 Free PMC article.

8

Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis.

Xie D, Duan R, Li C, Xie Z, Wang A, Xiong L, Wei J, Xi H, Fang J, Yan H, Wang J, Zhang Y, Mao X, Wang J, Wang H. Xie D, et al. Among authors: duan r. Front Public Health. 2022 May 9;10:887796. doi: 10.3389/fpubh.2022.887796. eCollection 2022. Front Public Health. 2022. PMID: 35615033 Free PMC article.

9

[Clinical and genetic analysis of three children with 22q13 deletion syndrome].

Wang J, Duan R, Yan H, Zhang Y, Xiao J, Wang J. Wang J, et al. Among authors: duan r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):680-684. doi: 10.3760/cma.j.cn511374-20210426-00363. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35810420 Chinese.

10

Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.

Xing S, Zheng X, Yan H, Mo Y, Duan R, Chen Z, Wang K, Gao K, Chen T, Zhao S, Wang J, Chen L. Xing S, et al. Among authors: duan r. Sci China Life Sci. 2023 Aug;66(8):1858-1868. doi: 10.1007/s11427-022-2290-1. Epub 2023 Apr 18. Sci China Life Sci. 2023. PMID: 37129766

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