نتایج جستجو برای: structural mutation

تعداد نتایج: 669694  

Haleh Akhavan Niaki, Mousa Ahmadpour Kachouri, Roya Farhadi, Yadollah Zahedpasha,

Background and Aim: Jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (G6PD) deficiency, some mutation types of which may be associated with severe neonatal icter. In this line, the present study has been conducted to compare G6PD mutations in incteric and non icteric neonates. Materials and Methods: This case-control study was imple...

2009
Christopher J. Richardson Qiong Gao Costas Mitsopoulos Marketa Zvelebil Laurence H. Pearl Frances M. G. Pearl

Members of the protein kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and activated protein kinases have proved to be tractable targets for the development of new anticancer therapies The MoKCa database (Mutations of Kinases in Cancer, http://strubiol.icr.ac.uk/extra/mokca) has been developed to structurally and functionally annotate, and where possi...

2017
Ying Xiao Xiaoqi Liu Xiaoxin Guo Liping Liu Linxin Jiang Qi Wang Bo Gong

Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, c...

2009
Suraj Sharma S. K. Jena

In today’s scenario any multiuser system need to implement access control for protecting its resources from unauthorized access or damage. With the help of separate policy specification language we can specify these access control policies. However, it is challenging to specify a correct access control policy and so, it is common for the security of a system to be compromised because of the inc...

2016
Yu Ding Beibei Gao Liang Zhou Haiying Xu Meiya Li Jinyu Huang

We reported here the molecular characterization of a mutation: A8343G in the TψC loop of mitochondrial tRNALys gene of a 57-year-old woman who manifested type 2 diabetes mellitus, arteriosclerosis and essential hypertension. No other family members were affected, suggested that our patient was a sporadic case. Sequence analysis for the entire mitochondrial genome showed the presence of a homopl...

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