TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

By N. Arbour, E. Lorenz, B. Schutte, J. Zabner, J. Kline, Michael P. Jones, K. Frees, J. L. Watt, David A. Schwartz. Nature Genetics, 2000

2,161 citations recorded by the source corpus.

Subfields: Physiology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/86317ab008badaf29f8a2e23479a5fbbaa294b9b

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Physiology

1. Guido Kroemer
2. L. Zitvogel
3. G. Núñez
4. S. Ghosh
5. M. Schoeler
6. Robert Caesar
7. P. Saftig
8. H. Eltzschig

In Pulmonary and Respiratory Medicine

1. Guido Kroemer

Citations in the corpus

• Toll-like receptor 4–dependent contribution of the immune system to anticancer chemotherapy and radiotherapy (2007, background): “Relevance of a TLR4 mutant for chemotherapy efficacy A sequence polymorphism in Tlr4 (896A/G, Asp299Gly, rs4986790) affecting the extracellular domain of TLR4 is associated with reduced endotoxin responses and with a reduced susceptibility to cardiovascular disease in human”
• Decreased Expression of Toll-Like Receptor-4 and MD-2 Correlates with Intestinal Epithelial Cell Protection Against Dysregulated Proinflammatory Gene Expression in Response to Bacterial Lipopolysaccharide1 (2001, background): “In addition to intracellular pathways that are altered in LPS-tolerized cells, polymorphisms in the extracellular domain of the TLR4 are associated with hyporesponsiveness to inhaled LPS in humans (66).”
• Immunogenic death of colon cancer cells treated with oxaliplatin (2010, background): “5%) as in the general Caucasian population (12–14%) (Arbour et al., 2000; Agnese et al., 2002).”
• Immune parameters affecting the efficacy of chemotherapeutic regimens (2011, background): “In Caucasians, the two receptors that capture signals from dying cells, TLR4 and P2RX7, are affected by single nucleotide polymorphisms that reduce their affinity for HMGB1 and ATP, respectively”
• A Novel Polymorphism in the Toll-Like Receptor 2 Gene and Its Potential Association with Staphylococcal Infection (2000, background): “Recently, mutations in the TLR4 receptor at residues 299 and 399 were shown to be associated with hyporesponsiveness to inhaled endotoxin in humans (2).”
• Toll-like receptor-mediated NF-kappaB activation: a phylogenetically conserved paradigm in innate immunity. (2001, background): “Furthermore, mutations cosegregating in LPS-hyporesponsive humans were mapped to positions Asp299Gly and Thr399Ile in TLR4 and lie within the extracellular domain of TLR4 (25).”
• Human Toll-like receptor 4 recognizes host-specific LPS modifications (2002, background): “This is a region in which human polymorphisms exis”
• Ischemia and reperfusion—from mechanism to translation (2011, background): “Mice with targeted gene deletion of Tlr4 are hyporesponsive to lipopolysaccharide, as are humans with missense mutations in TLR4 (ref”
• A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease (2001, background): “Similarly, genetic variation in the LRRs of TLR4 account for inter-individual differences in bronchial responsiveness to aerosolized LP”
• Tissue Expression of Human Toll-Like Receptors and Differential Regulation of Toll-Like Receptor mRNAs in Leukocytes in Response to Microbes, Their Products, and Cytokines (2002, background): “aureus infections (9) and LPS hyporesponsiveness (12) underscoring the importance of intact PAMP recognition systems in human health.”