Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Minxin Guan"'
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102761- (2022)
More than 120 genes have been reported to be associated with deafness, and deletion of the TBL1X gene may cause deafness in humans. In this study, we generated an induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a 34-year-old deaf
Externí odkaz:
https://doaj.org/article/763f9f4bbda84a64a0e60837b45c9cfb
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract To investigate the relationship between mitochondrial DNA (mtDNA) and hypertension as well as the mechanism involved in mitochondrial metabolic dysfunction. We identified a novel tRNAMet C4467A mutation in a Han Chinese family with hypertens
Externí odkaz:
https://doaj.org/article/5d68e85dfc3d4718a270375d8b5df8bb
Autor:
Kun Hou, Hui Jiang, Md. Rezaul Karim, Chao Zhong, Zhouwen Xu, Lin Liu, Minxin Guan, Jianzhong Shao, Xiao Huang
Publikováno v:
Cells, Vol 8, Iss 5, p 458 (2019)
Barhl1, a mouse homologous gene of Drosophila BarH class homeobox genes, is highly expressed within the inner ear and crucial for the long-term maintenance of auditory hair cells that mediate hearing and balance, yet little is known about the molecul
Externí odkaz:
https://doaj.org/article/c2a807d28a5e404bb65e6cd0ee5a4146
Autor:
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Pingping, Jiang, Jianyong, Wang, Yangshun, Gu, Minxin, Guan
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(3)
Leber's hereditary optic neuropathy (LHON) is a genetic disease featuring maternal inheritance. mtDNA m.11778GA, m.14484TC and m.3460GA mutations are its main molecular basis, but the disease is also affected by nuclear genes, genetic background of m
Autor:
Xin, Liu, Pu, Dai *, Deliang, Huang, Huijun, Yuan, Weiming, Li, Fei, Yu, Xin, Zhang, Dongyang, Kang, Juyang, Cao, Weiyan, Yang, Dongyi, Han, Zhengce, Jin, Minxin, Guan
Publikováno v:
In Journal of Otology June 2006 1(1):61-64
Publikováno v:
Ceramics International. 43:S270-S273
The effects of Li 2 O-ZnO-B 2 O 3 addition on densification, microstructure and dielectric properties of X7R dielectric fired at 950 °C in a reducing atmosphere have been investigated. Combined with a mixture of Li 2 CO 3 , H 3 BO 3 and ZnO (LZB-M),
Autor:
Mohan Liu, Rui Chen, Lin Wang, Hua Xu, Zongbin Li, Yang Li, Lei Gao, Yuqi Liu, Yi Wen, Minxin Guan, Shiwen Wang
Publikováno v:
BMC Medical Genetics, Vol 10, Iss 1, p 114 (2009)
Abstract Background The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apop
Externí odkaz:
https://doaj.org/article/5c63519cba2941f598ae82d4e2a14ab1
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(2)
A high proportion of modified nucleotides has been found in mitochondrial tRNA. Such modification can promote accurate folding of tRNA and its stability, while unmodified mitochondrial tRNA may fold into various 2D-structures with impaired functions.
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(1)
Mitochondrial tRNA
Autor:
Ling, Zhu, Cong, Cao, Jiji, Sun, Tao, Gao, Xiaoyang, Liang, Zhipeng, Nie, Yanchun, Ji, Pingping, Jiang, Minxin, Guan
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(1)
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of heredita