Article
A mouse model of human TLR4 D299G/T399I SNPs reveals mechanisms of altered LPS and pathogen responses.
The Journal of experimental medicine - 1 Feb 2021
Richard Katharina, Piepenbrink Kurt H, Shirey Kari Ann, Gopalakrishnan Archana, Nallar Shreeram, Prantner Daniel J, Perkins Darren J, Lai Wendy, Vlk Alexandra, Toshchakov Vladimir Y, Feng Chiguang, Fanaroff Rachel, Medvedev Andrei E, Blanco Jorge C G, Vogel Stefanie N
Abstract excerpt
Two cosegregating single-nucleotide polymorphisms (SNPs) in human TLR4, an A896G transition at SNP rs4986790 (D299G) and a C1196T transition at SNP rs4986791 (T399I), have been associated with LPS hyporesponsiveness and differential susceptibility to many infectious or inflammatory diseases. However, many studies failed to confirm these associations, and transfection experiments resulted in conflicting...
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