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
2005
Glutathione‐S‐transferase‐1 and interleukin‐1β gene polymorphisms in Japanese patients with Parkinson's disease
Nishimura M, Kuno S, Kaji R, Yasuno K, Kawakami H. Glutathione‐S‐transferase‐1 and interleukin‐1β gene polymorphisms in Japanese patients with Parkinson's disease. Movement Disorders 2005, 20: 901-902. PMID: 15834859, DOI: 10.1002/mds.20477.Peer-Reviewed Original ResearchAdultAgedAged, 80 and overAnalysis of VarianceChi-Square DistributionFemaleGenotypeGlutathione TransferaseHumansInterleukin-1JapanLinkage DisequilibriumMaleMiddle AgedParkinson DiseasePolymorphism, GeneticPolymorphism, Restriction Fragment LengthReverse Transcriptase Polymerase Chain ReactionRNA, Messenger