Gu MM - Search Results

1

The functional mechanisms and clinical application of read-through drugs.

Fu Y, Shu ZY, Gu MM. Fu Y, et al. Among authors: gu mm. Yi Chuan. 2016 Jul 20;38(7):623-633. doi: 10.16288/j.yczz.15-519. Yi Chuan. 2016. PMID: 27733335 Review.

2

[Nonsense-mediated mRNA decay and human monogenic disease].

Guo WT, Xu WY, Gu MM. Guo WT, et al. Among authors: gu mm. Yi Chuan. 2012 Aug;34(8):935-42. doi: 10.3724/sp.j.1005.2012.00935. Yi Chuan. 2012. PMID: 22917898 Review. Chinese.

3

[Research progress in the mouse models of Charcot-Marie-Tooth disease type 2 (CMT2)].

Yu Z, Luan C, Gu M. Yu Z, et al. Yi Chuan. 2014 Jan;36(1):21-9. doi: 10.3724/sp.j.1005.2014.00021. Yi Chuan. 2014. PMID: 24846915 Review. Chinese.

4

[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].

Xu Y, Zhang JY, Yang BY, He ZH, Zhang MC, Yu Z, Gu MM. Xu Y, et al. Among authors: gu mm. Yi Chuan. 2015 Jun;37(6):501-9. doi: 10.16288/j.yczz.14-412. Yi Chuan. 2015. PMID: 26351045 Review. Chinese.

5

Research progress of myosin heavy chain genes in human genetic diseases.

He YM, Gu MM. He YM, et al. Among authors: gu mm. Yi Chuan. 2017 Oct 20;39(10):877-887. doi: 10.16288/j.yczz.17-090. Yi Chuan. 2017. PMID: 29070483 Review.

6

Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay.

Luan CJ, Shen W, Yu Z, Chen L, Gu Y, Tang LY, Wang ZG, Dai L, Gu MM. Luan CJ, et al. Among authors: gu mm, gu y. Thromb Res. 2015 Apr;135(4):733-8. doi: 10.1016/j.thromres.2015.01.022. Epub 2015 Jan 22. Thromb Res. 2015. PMID: 25648792

7

[Study of the types of mutations of Thalassemia in Shanghai area].

Gu Y, Wu B, Lu Y, Gu M, Lin J. Gu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):385-392. doi: 10.3760/cma.j.cn511374-20230316-00140. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38565501 Chinese.

8

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.

Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. Xu WY, et al. Among authors: gu mm. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. Am J Hum Genet. 2012. PMID: 23141294 Free PMC article.

9

A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.

Chen C, Sun Q, Gu M, Liu K, Sun Y, Xu X. Chen C, et al. Graefes Arch Clin Exp Ophthalmol. 2015 Jun;253(6):915-24. doi: 10.1007/s00417-015-3019-x. Epub 2015 May 7. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 25947639

10

CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.

Luan CJ, Guo W, Chen L, Wei XW, He Y, Chen Y, Dang SY, Prior R, Li X, Kuang Y, Wang ZG, Van Den Bosch L, Gu MM. Luan CJ, et al. Among authors: gu mm. Acta Neuropathol Commun. 2020 Mar 13;8(1):32. doi: 10.1186/s40478-020-00901-0. Acta Neuropathol Commun. 2020. PMID: 32169121 Free PMC article.

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