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Article

The TLR4 D299G and T399I SNPs are constitutively active to up-regulate expression of Trif-dependent genes.

PloS one - 1 Jan 2014

Hold Georgina L, Berry Susan, Saunders Karin A, Drew Janice, Mayer Claus, Brookes Heather, Gay Nick J, El-Omar Emad M, Bryant Clare E

Abstract excerpt

Dysregulated Toll-Like Receptor (TLR) signalling and genetic polymorphisms in these proteins are linked to many human diseases. We investigated TLR4 functional variants D299G and T399I to assess the impact on LPS-induced responsiveness in comparison to wild-type TLR4. The mechanism by which this occurs in unclear as these SNPs do not lie within the lipid A binding domain or dimerisation sites of the LPS-TLR4/MD2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25365308
DOI: 10.1371/journal.pone.0111460
PMCID: PMC4218727

Genes

TLR4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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