Yan C - Search Results

1

A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency.

Zhao Y, Lin Y, Wang B, Liu F, Zhao D, Wang W, Ren H, Wang J, Xu Z, Yan C, Ji K. Zhao Y, et al. Among authors: yan c. Neuromolecular Med. 2023 Dec;25(4):489-500. doi: 10.1007/s12017-023-08750-5. Epub 2023 Aug 21. Neuromolecular Med. 2023. PMID: 37603145

2

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, Liu S, Zhao Y, Wen B, Dai T, Lin P, Gong Y, Yan C. Li H, et al. Among authors: yan c. J Hum Genet. 2011 Apr;56(4):335-8. doi: 10.1038/jhg.2011.15. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307865

3

Unfolded protein response and activated degradative pathways regulation in GNE myopathy.

Li H, Chen Q, Liu F, Zhang X, Li W, Liu S, Zhao Y, Gong Y, Yan C. Li H, et al. Among authors: yan c. PLoS One. 2013;8(3):e58116. doi: 10.1371/journal.pone.0058116. Epub 2013 Mar 5. PLoS One. 2013. PMID: 23472144 Free PMC article.

4

Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome.

Ji K, Zheng J, Sun B, Liu F, Shan J, Li D, Luo YB, Zhao Y, Yan C. Ji K, et al. Among authors: yan c. Neuromolecular Med. 2014 Mar;16(1):119-26. doi: 10.1007/s12017-013-8264-8. Epub 2013 Sep 24. Neuromolecular Med. 2014. PMID: 24062162

5

Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

Ji K, Liu K, Lin P, Wen B, Luo YB, Zhao Y, Yan C. Ji K, et al. Among authors: yan c. Neurol Sci. 2014 Mar;35(3):443-8. doi: 10.1007/s10072-013-1557-8. Epub 2013 Oct 4. Neurol Sci. 2014. PMID: 24091712

6

MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

Liu K, Zhao H, Ji K, Yan C. Liu K, et al. Among authors: yan c. Metab Brain Dis. 2014 Mar;29(1):139-44. doi: 10.1007/s11011-013-9464-5. Epub 2013 Dec 12. Metab Brain Dis. 2014. PMID: 24338029

7

Mesenchymal stem cells rescue injured endothelial cells in an in vitro ischemia-reperfusion model via tunneling nanotube like structure-mediated mitochondrial transfer.

Liu K, Ji K, Guo L, Wu W, Lu H, Shan P, Yan C. Liu K, et al. Among authors: yan c. Microvasc Res. 2014 Mar;92:10-8. doi: 10.1016/j.mvr.2014.01.008. Epub 2014 Jan 31. Microvasc Res. 2014. PMID: 24486322

8

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.

Shan J, Chen B, Lin P, Li D, Luo Y, Ji K, Zheng J, Yuan Y, Yan C. Shan J, et al. Among authors: yan c. Neuromolecular Med. 2014 Dec;16(4):782-6. doi: 10.1007/s12017-014-8327-5. Epub 2014 Oct 5. Neuromolecular Med. 2014. PMID: 25283883

9

Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR-YY1-PGC1α pathway.

Ji K, Zheng J, Lv J, Xu J, Ji X, Luo YB, Li W, Zhao Y, Yan C. Ji K, et al. Among authors: yan c. Free Radic Biol Med. 2015 Jul;84:161-170. doi: 10.1016/j.freeradbiomed.2015.03.020. Epub 2015 Apr 3. Free Radic Biol Med. 2015. PMID: 25843656

10

Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle.

Liu F, Lou J, Zhao D, Li W, Zhao Y, Sun X, Yan C. Liu F, et al. Among authors: yan c. Int J Neurosci. 2016 Jun;126(6):499-509. doi: 10.3109/00207454.2015.1034801. Epub 2015 Jul 14. Int J Neurosci. 2016. PMID: 26000923

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