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    --> 東京工科大学 教員業績    TOPページ    職歴／学内役職・委員 著書・論文歴 所属学会     （最終更新日：2022-07-27 13:43:51）   ドイ　コウイチロウ   土井　晃一郎    所属   応用生物学部 応用生物学科    職種   准教授 ■ 職歴／学内役職・委員 1. 2000/07～2001/12 東京大学 大学院新領域創成科学研究科 日本学術振興会特別研究員 2. 2001/12～2005/11 東京大学 大学院情報理工学系研究科 科学技術振興特任教員 3. 2005/12～2009/12 京都大学 大学院情報学研究科 助手 4. 2010/01～2017/03 東京大学 大学院新領域創成科学研究科 特任講師 5. 2017/04～ 東京工科大学 応用生物学部 応用生物学科 准教授 6. 2017/04～2028/03 東京工科大学大学院 バイオ・情報メディア研究科 バイオニクス専攻　修士課程 准教授 7. 2018/04～ 応用生物学部 メディアセンター委員 8. 2018/04～ 応用生物学部 教務委員会委員 9. 2019/09～2028/03 東京工科大学大学院 バイオ・情報メディア研究科 バイオニクス専攻　博士後期課程 准教授 5件表示 全件表示(9件) ■ 著書・論文歴 1. 2022/07 論文　 Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator Neurology and Clinical Neuroscience 10(4),pp.210-217 （共著）  2. 2021/03 論文　 Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population Journal of Human Genetics 66(3),pp.237-241 （共著）  3. 2021/03 論文　 Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis Neurogenetics 22(1),pp.11-17 （共著）  4. 2020/07 論文　 Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis Scientific reports 10 （共著）  5. 2019/09 論文　 Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1 Neurology and Clinical Neuroscience 7(5),294-296頁 （共著）  6. 2019/08 論文　 Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nature Genetics 51(8),pp.1222-1232 （共著）  7. 2019/05 論文　 Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. Journal of Neurology, Neurosurgery, and Psychiatry 90(5) （共著）  8. 2019/04 論文　 Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. Parkinsonism and Related Disorders 61,pp.57-63 （共著）  9. 2018/06 論文　 Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain 141(6),pp.1622-1636 （共著）  10. 2018/04 論文　 Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nature Genetics 50(4),pp.581-590 （共著）  11. 2018/04 論文　 Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 64,pp.158.e15-158.e19 （共著）  12. 2018/04 論文　 Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia Cerebellum 17(2),pp.237-242 （共著）  13. 2018/01 論文　 Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation Neurobiology of Aging 61,pp.255.e9-255.e16 （共著）  14. 2017/11 論文　 Centromere evolution and CpG methylation during vertebrate speciation Nature Communications 8(1) （共著）  15. 2017/10 論文　 Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 174(7),pp.712-723 （共著）  16. 2017/07 論文　 Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease Neurology and Clinical Neuroscience 5(4),pp.124-126 （共著）  17. 2017/04 論文　 Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype Journal of the Neurological Sciences 375,pp.424-429 （共著）  18. 2017/04 論文　 TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy Journal of Human Genetics 62(4),pp.473-480 （共著）  19. 2017/01 論文　 Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing Journal of the Neurological Sciences 372,pp.6-10 （共著）  20. 2016/10 論文　 Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines Molecular Brain 9(1),pp.88 （共著）  21. 2016/09 論文　 Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance Neurology and Clinical Neuroscience 4(5),pp.189-191 （共著）  22. 2016/06 論文　 Human genetic variation database, a reference database of genetic variations in the Japanese population Jounal of Human Genetics 61(6),pp.547-553 （共著）  23. 2016/05 論文　 Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults Nature Genetics 48(5),pp.569-574 （共著）  24. 2016/04 論文　 Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2 Annals of Neurology 79(4),pp.659-672 （共著）  25. 2016/02 論文　 Atypical parkinsonism caused by Pro105Leu mutation of prion protein : A broad clinical spectrum Neurology Genetics 2(1),pp.e48 （共著）  26. 2015/07 論文　 A novel mutation in ELOVL4 leading to Spinocerebellar Ataxia (SCA) with the hot cross bun sign but lacking Erythrokeratodermia: A broadened spectrum of SCA34 JAMA Neurology 72(7),pp.797-805 （共著）  27. 2014/04 論文　 A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 Journal of Bone and Mineral Research 29(4),pp.992-998 （共著）  28. 2014/03 論文　 Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing Bioinformatics 30(6),pp.815-822 （共著）  29. 2014/01 論文　 Exome sequencing shows a novel de novo mutation in ATL1 Neurology and Clinical Neuroscience 2(1),pp.1-4 （共著）  30. 2013/11 論文　 ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 The American Journal of Human Genetics 93(5),pp.900-905 （共著）  31. 2013/08 論文　 Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 Journal of the Neurological Sciences 331(1-2),pp.158-160 （共著）  32. 2012/12 論文　 Efficient mining of closed tree patterns from large tree databases with subtree constraint International Journal on Artificial Intelligence Tools 21(6),pp.1250026-1-26 （共著）  33. 2011/12 論文　 Semantics of a graphical model for representing hypotheses and a system supporting the management of hypotheses The 5th International Conference on Knowledge, Information and Creativity Support Systems (KICSS2010), Revised Selected Papers pp.32-43 （共著）  34. 2010/12 論文　 Mining with privacy preserving for distributed databases ICDM Workshops 2010 pp.483-490 （共著）  35. 2009/10 論文　 Discovering the structures of open source programs from their developer mailing lists the 11th International Conference on Discovery Science (DS2009) pp.227-241 （共著）  36. 2009/03 論文　 Kernel functions based on derivations New Frontiers in Applied Data Mining pp.111-122 （共著）  37. 2008/12 論文　 The genome of a lepidopteran model insect, the silkworm Bombyx mori Insect Biochemistry and Molecular Biology  （共著）  38. 2008/10 論文　 Finding frequent patterns from compressed tree-structured data the 11th International Conference on Discovery Science (DS 2008) pp.284-295 （共著）  39. 2008/03 論文　 内包カーネル関数 人工知能学会論文誌 23(3),185-192頁 （共著）  40. 2008/01 論文　 UTGB/medaka: genomic resource database for medaka biology Nucleic Acids Research 36,pp.D747-D752 （共著）  41. 2007/10 論文　 An intentional kernel for RNA classification the 10th International Conference on Discovery Science (DS 2007) pp.281-285 （共著）  42. 2007/07 論文　 An efficient algorithm for computing kernel function defined with anti-unification the 16th International Conference of Inductive Logic Programming, Revised Seleted Papers pp.139-153 （共著）  43. 2007/06 論文　 The medaka draft genome and insights into vertebrate genome evolution Nature 447,pp.714-719 （共著）  44. 2006/07 著書　 バイオインフォマティクス事典   （共著）  45. 2003/09 論文　 Minimum recombinant haplotype configuration on tree pedigrees 3rd Workshop on Algorithms in Bioinformatics (WABI 2003) pp.339-353 （共著）  46. 2000/12 論文　 Sequencing by hybridization in the presence of hybridization errors Genome Informatics 2000  （共著）  47. 1999/12 論文　 A greedy algorithm for minimizing the number of primers in multiple PCR experiments Genome Informatics 1999 pp.73-82 （共著）  48. 1997/12 論文　 Greedy algorithms for finding a small set of primers satisfying cover and length resolution conditions in PCR experiments Genome Informatics 1997 pp.43-52 （共著）  5件表示 全件表示(48件) ■ 所属学会 1. 2005～ 日本バイオインフォマティクス学会 2. 2019～ 人工知能学会 著作権情報