2007
Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL
Niemann S, Landers J, Churchill M, Hosler B, Sapp P, Speed W, Lahn B, Kidd K, Brown R, Hayashi Y. Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL. Neurology 2007, 70: 666-676. PMID: 17687115, DOI: 10.1212/01.wnl.0000271078.51280.17.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCase-Control StudiesDNA Mutational AnalysisGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationGenotypeHaplotypesHumansLinkage DisequilibriumMotor Neuron DiseaseMotor NeuronsPolymorphism, Single NucleotideReceptors, N-Methyl-D-AspartateSuperoxide DismutaseSuperoxide Dismutase-1ConceptsSporadic amyotrophic lateral sclerosisAmyotrophic lateral sclerosisSingle nucleotide polymorphismsGRIN3B geneGlutamate-mediated excitotoxicityCase-control studyFamilial amyotrophic lateral sclerosisIonotropic glutamate receptorsNervous system-related genesTag single nucleotide polymorphismsPolymorphic CAG repeatNMDA typeGlutamate receptorsLateral sclerosisReceptor responsesAllele frequenciesCommon polymorphismsUnreported single nucleotide polymorphismsNR3BCAG repeatsGenetic dysfunctionGRIN3BNucleotide polymorphismsNull allelesIndividuals
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
2000
Evolution of exon 1 of the dopamine D4 receptor (DRD4) gene in primates
Seaman M, Chang F, Deinard A, Quiñones A, Kidd K. Evolution of exon 1 of the dopamine D4 receptor (DRD4) gene in primates. Journal Of Experimental Zoology 2000, 288: 32-38. PMID: 10750051, DOI: 10.1002/(sici)1097-010x(20000415)288:1<32::aid-jez4>3.0.co;2-g.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBiological EvolutionDNA Mutational AnalysisExonsHumansPolymorphism, GeneticPrimatesReceptors, DopamineConceptsHigh conservationOld World monkeysWorld monkeysTandem repeatsPrimate speciesExon 1Amino acid sequenceReceptor geneGreat apesRelaxed selectionEvolutionary historyD4 receptor geneHomologous exonsInterspecific differencesNew World monkeysDopamine D4 receptor geneAcid sequenceSelective pressureFirst exonTandem duplicationExonsExon 3SpeciesGenesRepeats
1998
OA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur R, Gao M, Wick P, Keller M, Benke P, Edwards M, Grix A, Hockey A, Jung J, Kidd K, Kistenmacher M, Levin A, Lewis R, Musarella M, Nowakowski R, Orlow S, Pagon R, Pillers D, Punnett H, Quinn G, Tezcan K, Wagstaff J, Weleber R. OA1 Mutations and Deletions in X-Linked Ocular Albinism. American Journal Of Human Genetics 1998, 62: 800-809. PMID: 9529334, PMCID: PMC1377018, DOI: 10.1086/301776.Peer-Reviewed Original Research
1997
Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method
Sirugo G, Deinard A, Kidd J, Kidd K. Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method. Human Molecular Genetics 1997, 6: 403-408. PMID: 9147643, DOI: 10.1093/hmg/6.3.403.Peer-Reviewed Original ResearchConceptsCTG/CAGPygmy chimpanzeesCommon chimpanzeesRepeat lengthRandom genetic driftOrang-utansHuman populationDisease association studiesGenetic driftHuman genomeOverall mutation rateGenome scanAssociation studiesMutation rateBiaka PygmiesExpansion mutationRepeat expansionTotal genome scanPopulation differencesPopulation stratificationNon-human primatesRepeat expansion detection (RED) methodExpansion detectionChimpanzeesMutations