2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway
2010
Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms
Akiyama K, Narita A, Nakaoka H, Cui T, Takahashi T, Yasuno K, Tajima A, Krischek B, Yamamoto K, Kasuya H, Hata A, Inoue I. Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms. Journal Of Human Genetics 2010, 55: 656-661. PMID: 20613766, DOI: 10.1038/jhg.2010.82.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide single nucleotide polymorphismsAssociation studiesSusceptibility lociGenome-wide association studiesGenetic susceptibility lociActin remodelingSusceptibility genesGenetic effectsGenetic variantsNucleotide polymorphismsLociJapanese populationCase-control subjectsGenesPathwayPolymorphismPopulationRemodelingFurther investigationSex effectsVariants
2007
Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism
Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena M, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya. Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism. American Journal Of Human Genetics 2007, 80: 393-406. PMID: 17273961, PMCID: PMC1821114, DOI: 10.1086/512129.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlu ElementsBlotting, NorthernCase-Control StudiesChromosomes, Human, XDNADown-RegulationDystoniaFemaleGenes, X-LinkedGenetic Diseases, X-LinkedHistone AcetyltransferasesHumansImmunoenzyme TechniquesMaleMiddle AgedMolecular Sequence DataNeuronsParkinsonian DisordersPedigreeRepetitive Sequences, Nucleic AcidReverse Transcriptase Polymerase Chain ReactionRNA, MessengerTandem Repeat SequencesTATA BoxTATA-Binding Protein Associated FactorsTranscription Factor TFIIDConceptsNeuron-specific expressionDystonia-parkinsonismTAF1 geneDopamine receptor D2 geneMovement disordersCaudate nucleusBrain tissueDecreased expressionAbnormal patternsGenomic sequencing analysisFactor 1 geneExpression levelsCausative genesCaudateSVA retrotransposon insertionD2 geneSequencing analysis