Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation

Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation

Hennekam syndrome (HS) is an autosomal recessive disease in the pathogenesis of which lymphangiectasia and lymphedema plays a key role. HS is associated with mutations in CCBE1, FAT4, and ADAMTS3 proteins that somehow affect the activation of the primary lymphangiogenic growth factor VEGF-C. We used...

Full description

Bibliographic Details
Main Authors: Khyber Shinwari, Hafiz Muzzammel Rehman, Ningkun Xiao, Liu Guojun, Muhammad Ajmal Khan, Mikhail A. Bolkov, Irina A. Tuzankina, Valery A. Chereshnev
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Informatics in Medicine Unlocked
Subjects:
Hennekam syndrome
Primary immunodeficiency
In-silico
FAT4 missense SNP
Dynamic simulation
Online Access:http://www.sciencedirect.com/science/article/pii/S2352914823000023

Internet

http://www.sciencedirect.com/science/article/pii/S2352914823000023

Similar Items