Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Kunqian, Ji"'
Autor:
Yan Lin, Jiayin Wang, Xingyu Zhuang, Ying Zhao, Wei Wang, Dongdong Wang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-12 (2024)
Abstract Background Mitochondrial tRNA (mt-tRNA) variants have been found to cause disease. Post-transcriptional queuosine (Q) modifications of mt-tRNA can promote efficient mitochondrial mRNA translation. Q modifications of mt-tRNAAsn have recently
Externí odkaz:
https://doaj.org/article/a3ec1eb53c6540ed9ce9216c4360fe50
Autor:
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/bae1b39f748f4d09adee17ffe500b689
Autor:
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Mitochondrial diseases (MDs) can be caused by single nucleotide variants (SNVs) and structural variants (SVs) in the mitochondrial genome (mtDNA). Presently, identifying deletions in small to medium-sized fragments and accurately
Externí odkaz:
https://doaj.org/article/151e2d63e5074240b424bf794c3afc60
Autor:
Wei Wang, Yuying Zhao, Xuebi Xu, Xiaotian Ma, Yuan Sun, Yan Lin, Ying Zhao, Zhihong Xu, Jiayin Wang, Hong Ren, Bin Wang, Dandan Zhao, Dongdong Wang, Fuchen Liu, Wei Li, Chuanzhu Yan, Kunqian Ji
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 1035-1045 (2023)
ABSTRACT Objective To explore the clinical characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS) caused by mitochondrial DNA‐encoded complex I subunit (mt‐ND) variants. Methods In this retrospecti
Externí odkaz:
https://doaj.org/article/9626af78c7414513ad70bb88a17aadda
Autor:
Peizheng Li, Dandan Guo, Xiufang Zhang, Kunqian Ji, Hongbo Lv, Yanli Zhang, Zhichao Chen, Jun Ma, Yaofeng Fang, Yiming Liu
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia. However, ophthalmoplegia and visual failure associated
Externí odkaz:
https://doaj.org/article/fb6d562147cd49c0bd9c5ec786a0c247
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1204-1213 (2020)
Abstract Objective Given their diverse phenotypes, mitochondrial diseases (MDs) are often difficult to diagnose. Fibroblast growth factor 21 (FGF‐21) and growth differentiation factor 15 (GDF‐15) represent promising biomarkers for MD diagnosis. H
Externí odkaz:
https://doaj.org/article/0bd68aed67e440a09576fa41f0511863
Autor:
Kunqian Ji, Wei Wang, Yan Lin, Xuebi Xu, Fuchen Liu, Dongdong Wang, Yuying Zhao, Chuanzhu Yan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 980-991 (2020)
Abstract Objective Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA, among which, mutations in mitochondrial tRNA genes possessing prominent status. In most of the cases, however, the det
Externí odkaz:
https://doaj.org/article/bf83f474c0824b64a901f8ffded4e727
Publikováno v:
Seizure. 106:110-116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c13be35277756d6da50a1c72d02bdcaf
https://doi.org/10.1016/j.seizure.2023.02.014
https://doi.org/10.1016/j.seizure.2023.02.014
Autor:
Hong Ren, Yan Lin, Ying Li, Xiufang Zhang, Wei Wang, Xuebi Xu, Kunqian Ji, Yuying Zhao, Chuanzhu Yan
Publikováno v:
Neurological Sciences. 43:5581-5592
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a29ee231290ddd0fd1ad480970f36e6f
https://doi.org/10.1007/s10072-022-06165-x
https://doi.org/10.1007/s10072-022-06165-x
Autor:
Wei Wang, Yuying Zhao, Xuebi Xu, Xiaotian Ma, Yuan Sun, Yan Lin, Ying Zhao, Zhihong Xu, Jiayin Wang, Hong Ren, Bin Wang, Dandan Zhao, Dongdong Wang, Fuchen Liu, Wei Li, Chuanzhu Yan, Kunqian Ji
Publikováno v:
Annals of Clinical and Translational Neurology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4765f01238c52b2df46d1c0cc18e483e
https://doi.org/10.1002/acn3.51787
https://doi.org/10.1002/acn3.51787