2005
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAnimalsAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolChromosome InversionChromosome MappingChromosomes, Human, Pair 13DNADNA Mutational AnalysisFemaleFrameshift MutationHumansIn Situ Hybridization, FluorescenceMaleMembrane ProteinsMiceMutationNerve Tissue ProteinsPedigreeSequence Analysis, DNATourette SyndromeConceptsSequence variantsTourette syndromeChromosomal inversionsFrameshift mutantsCandidate genesExpression patternsControl chromosomesPrimary neuronal culturesFrameshift mutationSLITRK1Independent occurrenceMotor ticsDevelopmental neuropsychiatric disordersChronic vocalNeuronal culturesIdentical variantsUnrelated probandsBrain regionsNeuropsychiatric disordersSyndrome
2003
Homez, a homeobox leucine zipper gene specific to the vertebrate lineage
Bayarsaihan D, Enkhmandakh B, Makeyev A, Greally JM, Leckman JF, Ruddle FH. Homez, a homeobox leucine zipper gene specific to the vertebrate lineage. Proceedings Of The National Academy Of Sciences Of The United States Of America 2003, 100: 10358-10363. PMID: 12925734, PMCID: PMC193566, DOI: 10.1073/pnas.1834010100.Peer-Reviewed Original ResearchConceptsLeucine zipper-like motifHomeobox-containing proteinLobe-finned fishesVertebrate homeobox genesFamily of genesLeucine zipper genesUnusual structural organizationZipper-like motifOverall protein structureVertebrate lineageComplementation modelZipper genePufferfish homologsHomeodomain sequencesMammalian sequencesMouse geneZHX familyMouse developmentAcidic domainHomeobox genesPhylogenetic analysisHomeodomain factorsGenomic analysisAtypical homeodomainHomez
1991
Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome.
Pakstis AJ, Heutink P, Pauls DL, Kurlan R, van de Wetering BJ, Leckman JF, Sandkuyl LA, Kidd JR, Breedveld GJ, Castiglione CM. Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome. American Journal Of Human Genetics 1991, 48: 281-94. PMID: 1990837, PMCID: PMC1683024.Peer-Reviewed Original Research