Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease

2021 ◽  
Author(s):  
Yang Gao ◽  
Huan Wu ◽  
Yuping Xu ◽  
Qunshan Shen ◽  
Chuan Xu ◽  
...  
2019 ◽  
Author(s):  
C. Mignot ◽  
R. Bunod ◽  
D. Doummar ◽  
A. Isapof ◽  
A. Afenjar ◽  
...  
Keyword(s):  

2017 ◽  
Vol 63 (4) ◽  
pp. 545-556
Author(s):  
Natalya Oskina ◽  
Aleksandr Shcherbakov ◽  
Maksim Filipenko ◽  
Nikolay Kushlinskiy ◽  
L. Ovchinnikova

Currently it is established that cancer is a genetic disease and that somatic mutations are the initiators of the carcinogenic process. The PI3K/AKT/mTOR pathway is an important intracellular signaling pathway regulating the cell growth and metabolic activities. Aberrant activation of the PI3K pathway is commonly observed in many different cancers. In this review we analyze the genetic alterations of PI3K pathway in a variety of human malignancies and discuss their possible implications for diagnosis and therapy.


2015 ◽  
Vol 16 (9) ◽  
pp. 976-987 ◽  
Author(s):  
Nualpun Sirinupong ◽  
Zhe Yang

2019 ◽  
Vol 16 (5) ◽  
pp. 392-401
Author(s):  
Shengli Zhang ◽  
Zekun Tong ◽  
Haoyu Yin ◽  
Yifan Feng

Background: Finding the pathogenic gene is very important for understanding the pathogenesis of the disease, locating effective drug targets and improving the clinical level of medical treatment. However, the existing methods for finding the pathogenic genes still have limitations, for instance the computational complexity is high, and the combination of multiple genes and pathways has not been considered to search for highly related pathogenic genes and so on. Methods: We propose a pathogenic genes selection model of genetic disease based on Network Motifs Slicing Feedback (NMSF). We find a point set which makes the conductivity of the motif minimum then use it to substitute for the original gene pathway network. Based on the NMSF, we propose a new pathogenic genes selection model to expand pathogenic gene set. Results: According to the gene set we have obtained, selection of key genes will be more accurate and convincing. Finally, we use our model to screen the pathogenic genes and key pathways of liver cancer and lung cancer, and compare the results with the existing methods. Conclusion: The main contribution is to provide a method called NMSF which simplifies the gene pathway network to make the selection of pathogenic gene simple and feasible. The fact shows our result has a wide coverage and high accuracy and our model has good expeditiousness and robustness.


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