2010
Additional support for the association of SLITRK1 var321 and Tourette syndrome
O'Roak B, Morgan T, Fishman D, Saus E, Alonso P, Gratacòs M, Estivill X, Teltsh O, Kohn Y, Kidd K, Cho J, Lifton R, State M. Additional support for the association of SLITRK1 var321 and Tourette syndrome. Molecular Psychiatry 2010, 15: 447-450. PMID: 20351724, PMCID: PMC3292207, DOI: 10.1038/mp.2009.105.Peer-Reviewed Original Research
2004
Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region
Paschou P, Feng Y, Pakstis A, Speed W, DeMille M, Kidd J, Jaghori B, Kurlan R, Pauls D, Sandor P, Barr C, Kidd K. Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region. American Journal Of Human Genetics 2004, 75: 545-560. PMID: 15303240, PMCID: PMC1182043, DOI: 10.1086/424389.Peer-Reviewed Original ResearchMeSH KeywordsC-Reactive ProteinChromosome MappingChromosomes, Human, Pair 17Gene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumLod ScoreMicrosatellite RepeatsMicrotubule-Associated ProteinsNerve Tissue ProteinsPedigreePolymorphism, Single NucleotideTourette SyndromeWhite PeopleConceptsSingle nucleotide polymorphismsLinkage disequilibriumSusceptibility regionsThree-site haplotypesPutative susceptibility regionsBackground linkage disequilibriumSignificant association resultsIndication of linkageNonparametric LOD scoreGenomic regionsThree-marker haplotypeComplex genetic backgroundAdditional microsatellite markersFine mappingGenetic basisHigher LD valuesMicrosatellite markersExpression profilesAssociation resultsTransmission/disequilibrium testChromosome 17Genetic componentGenetic backgroundGenesLOD score
1995
The Dopamine Transporter Protein Gene (SLC6A3): Primary Linkage Mapping and Linkage Studies in Tourette Syndrome
Gelernter J, Vandenbergh D, Kruger S, Pauls D, Kurlan R, Pakstis A, Kidd K, Uhl G. The Dopamine Transporter Protein Gene (SLC6A3): Primary Linkage Mapping and Linkage Studies in Tourette Syndrome. Genomics 1995, 30: 459-463. PMID: 8825631, DOI: 10.1006/geno.1995.1265.Peer-Reviewed Original ResearchConceptsTourette syndromeDopamine transporterAttention deficit disorderDopaminergic neuronsPresynaptic reuptakeSpecific localizationPsychiatric illnessPsychostimulant drugsChromosome 5pCocaine-induced paranoiaSyndromeDeficit disorderSLC6A3ScoresMajor siteLinkage studiesNegative lod scoresMarkersTransporter protein geneEvidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
Takiyama Y, Igasrashi S, Rogaeva E, Endo K, Rogaev E, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda M, Lin C, Chi H, Kennedy J, Lang A, Wherrett J, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd K, Tsuji S, St George-Hyslop P. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Human Molecular Genetics 1995, 4: 1137-1146. PMID: 8528200, DOI: 10.1093/hmg/4.7.1137.Peer-Reviewed Original ResearchAge of OnsetAllelesAsian PeopleAtaxin-3Base SequenceConserved SequenceFemaleGenetics, PopulationHaplotypesHomozygoteHumansJapanMachado-Joseph DiseaseMaleMeiosisMolecular Sequence DataNerve Tissue ProteinsNuclear ProteinsPedigreePhenotypePolymorphism, GeneticProteinsRepetitive Sequences, Nucleic AcidRepressor ProteinsWhite People