2013
Haplotype structure and positive selection at TLR1
Heffelfinger C, Pakstis AJ, Speed WC, Clark AP, Haigh E, Fang R, Furtado MR, Kidd KK, Snyder MP. Haplotype structure and positive selection at TLR1. European Journal Of Human Genetics 2013, 22: 551-557. PMID: 24002163, PMCID: PMC3953919, DOI: 10.1038/ejhg.2013.194.Peer-Reviewed Original ResearchConceptsToll-like receptor 2Toll-like receptor 1Missense variantsInnate immune systemReduced riskMedical conditionsReceptor 2Immune systemReceptor 1Cell surface receptorsSepsisSubsequent activationTLR1Surface receptorsBacterial lipoproteinsLeprosySurface traffickingDiseaseHuman healthRiskHealthMultiple functional allelesRs5743618TuberculosisLipoprotein
2006
Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene
Patin E, Harmant C, Kidd K, Kidd J, Froment A, Mehdi S, Sica L, Heyer E, Quintana‐Murci L. Sub‐Saharan African coding sequence variation and haplotype diversity at the NAT2 gene. Human Mutation 2006, 27: 720-720. PMID: 16786516, DOI: 10.1002/humu.9438.Peer-Reviewed Original ResearchConceptsNon-synonymous mutationsNovel non-synonymous mutationsEvolutionary conservationDetailed genetic characterizationIndividuals/populationsHaplotype diversityAgriculturalist populationsSequence variationProtein activityAfrican populationsWestern PygmiesAfrican haplotypesGenetic characterizationUnknown functional effectsGenesFunctional effectsNAT2 geneHaplotype frequenciesSub-Saharan African populationsMutationsChromosomesDamaging effectsLociPopulationProtein