ArticleBMC genetics2009
Novel mutations in TLR genes cause hyporesponsiveness to Mycobacterium avium subsp. paratuberculosis infection.
Article in BMC genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 59 citations in OpenAlex.
- Machine learning-driven discovery of host genetic factors for paratuberculosis in goats within the one health framework.BMC veterinary research · 2026Article
- Beyond receptor activation: biased toll-like receptor signaling in periodontal inflammation and regeneration.Frontiers in immunology · 2026Review
- Unveiling the molecular interactions between bisphenol A and the cell surface Toll-like receptors: Implications for immune health.Toxicology reports · 2025Article
- Differences between mates at the TLR1Lb locus are associated with lower reproductive success in a long-lived seabird.Scientific reports · 2024Article
- Advances in understanding the genetic architecture of antibody response to paratuberculosis in sheep by heritability estimate and LDLA mapping analyses and investigation of candidate regions using sequence-based data.Genetics, selection, evolution : GSE · 2024Article
- Analysis of long non-coding RNA expression profile of bovine monocyte-macrophage infected by Mycobacterium avium subsp. paratuberculosis.BMC genomics · 2022Article
- Vitamin DFrontiers in cellular and infection microbiology · 2022Article
- Nontuberculous Mycobacteria, Macrophages, and Host Innate Immune Response.Infection and immunity · 2021Review
- Association of TLR2 haplotypes encoding Q650 with reduced susceptibility to ovine Johne's disease in Turkish sheep.Scientific reports · 2021Article
- Exogenous Vitamin DFrontiers in cellular and infection microbiology · 2021Article
- The Paratuberculosis Paradigm Examined: A Review of Host Genetic Resistance and Innate Immune Fitness inFrontiers in veterinary science · 2021Review
- Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses.International journal of molecular sciences · 2020Article
- Purifying selection shaping the evolution of the Toll-like receptor 2 TIR domain in brown hares (Lepus europaeus) from Europe and the Middle East.Molecular biology reports · 2020Article
- Potential role of Toll-like receptor 2 expression and polymorphisms in colon cancer susceptibility in the Saudi Arabian population.OncoTargets and therapy · 2018Article
- Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population.PloS one · 2018Article
- The R753Q polymorphism in Toll-like receptor 2 (TLR2) attenuates innate immune responses to mycobacteria and impairs MyD88 adapter recruitment to TLR2.The Journal of biological chemistry · 2017Article
- No genetic relationship betweenOncoTargets and therapy · 2017Article
- Expression and Polymorphism of Toll-Like Receptor 4 and Effect on NF-κB Mediated Inflammation in Colon Cancer Patients.PloS one · 2016Article
- Toll-like receptor polymorphisms, inflammatory and infectious diseases, allergies, and cancer.Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research · 2013Review
- TLR4, IL10RA, and NOD2 mutation in paediatric Crohn's disease patients: an association with Mycobacterium avium subspecies paratuberculosis and TLR4 and IL10RA expression.Medical microbiology and immunology · 2013Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundToll like receptors (TLR) play the central role in the recognition of pathogen associated molecular patterns (PAMPs). Mutations in the TLR1, TLR2 and TLR4 genes may change the ability to recognize PAMPs and cause altered responsiveness to the bacterial pathogens.
resultsThe study presents association between TLR gene mutations and increased susceptibility to Mycobacterium avium subsp. paratuberculosis (MAP) infection. Novel mutations in TLR genes (TLR1- Ser150Gly and Val220Met; TLR2 - Phe670Leu) were statistically correlated with the hindrance in recognition of MAP legends. This correlation was confirmed subsequently by measuring the expression levels of cytokines (IL-4, IL-8, IL-10, IL-12 and IFN-gamma) in the mutant and wild type moDCs (mocyte derived dendritic cells) after challenge with MAP cell lysate or LPS. Further in silico analysis of the TLR1 and TLR4 ectodomains (ECD) revealed the polymorphic nature of the central ECD and irregularities in the central LRR (leucine rich repeat) motifs.
conclusionThe most critical positions that may alter the pathogen recognition ability of TLR were: the 9th amino acid position in LRR motif (TLR1-LRR10) and 4th residue downstream to LRR domain (exta-LRR region of TLR4). The study describes novel mutations in the TLRs and presents their association with the MAP infection.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.