ゲノミクス分野HP

ゲノミクス分野

【Publications / 研究業績】

2024:
Ozaki K, Kato R, Yasuhara T, Uchihara Y, Hirakawa M, Abe Y, Shibata H, Kawabata-Iwakawa R, Shakayeva A, Kot P, Miyagawa K, Suzuki K, Matsuda N, Shibata A, Yamauchi M. Involvement of the splicing factor SART1 in the BRCA1-dependent homologous recombination repair of DNA double-strand breaks. Sci Rep. 14: 18455 (2024).PubMed, Open Access

Morikawa T, Miura S, Uchiyama Y, Hiruki S, Sun Y, Fujioka R, Shibata H. Hexanucleotide repeat expansion in SCA36 reduces expression of genes involved in ribosome biosynthesis and protein translation. J Hum Genet. 69: 411–416 (2024).PubMed, Open Access

Miura S, Watanabe E, Senzaki K, Hiruki S, Matsumoto S, Morikawa T, Uchiyama Y, Kurata S, Ochi M, Ohyagi Y, Shibata H. Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A. Hum Genome Var.11(1):3 (2024).PubMed, Open Access

2023:
Kondo M, Torisu T, Nagasue T, Shibata H, Umeno J, Kawasaki K, Fujioka S, Matsuno Y,Moriyama T, Kitazono T. Duodenal microbiome in chronic kidney disease. Clin Exp Nephrol. 28(4): 263-272 (2023).PubMed.

Miura S, Hiruki S, Okada T, Senzaki K, Okada Y, Ochi M, Tanabe Y, Ochi H, Igase M, Ohyagi Y, Shibata H. Case Report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene. Front Genet. 14:1155998 (2023).PubMed, Open Access

Morikawa T, Takahashi M, Izumi Y, Bamba T, Moriyama K, Hattori G, Fujioka R, Miura S, Shibata H. Oleic acid-containing phosphatidylinositol is a blood biomarker candidate for SPG28. Biomedicines 11(4):1092 (2023).PubMed, Open Access.

Nakata M, Yokota N, Tabata K, Morikawa T, Shibata H, Kenzaka T. Hereditary congenital methemoglobinemia diagnosed at the age of 79 years: A case report. Medicina (Kaunas) 59(3):615 (2023).PubMed, Open Access.

2022:
Morikawa T, Miura S, Fan L, Watanabe E, Fujioka R, Motooka H, Yasumoto S, Uchiyama Y, Shibata H. A Japanese family with dystonia due to a pathogenic variant in SGCE. Hum Genome Var. 9:29 (2022).PubMed, Open Access.

Matsuno Y, Torisu T, Umeno J, Shibata H, Hirano A, Fuyuno Y, Okamoto Y, Fujioka S, Kawasaki K, Moriyama T, Nagasue T, Zeze K, Hirakawa Y, Kawatoko S, Yutaka Koga Y, Oda Y, Esaki M, Kitazono T. One-year clinical efficacy and safety of indigo naturalis for active ulcerative colitis: a real-world prospective study. Intest Res. 20(2):260-268 (2022).PubMed, Open Access.

Isomoto A, Shoguchi E, Hisata K, Inoue J, K, Sun Y, Inaba K, Satoh N, Ogawa T, Shibata H. Active expression of genes for protein modification enzymes in the venom gland of habu snakes. Toxins (Basel). 14: 300 (2022).PubMed, Open Access.

Nagasue T, Hirano A, Torisu T, Umeno J, Shibata H, Moriyama T, Kawasaki K, Fujioka S, Fuyuno Y, Matsuno Y, Esaki M, Kitazono T. The compositional structure of the small intestinal microbial community via balloon-assisted enteroscopy. Digestion. 8: 1-11 (2022).PubMed.

Fan L, Miura S, Shimojo T, Sugino H, Fujioka R, Shibata H. A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia. Hum Genome Var. 9: 4 (2022).PubMed, Open Access.

Fujioka R, Okamoto A, Fan L, Miura S, Shibata H. Effect of guanylic acid on PC-12 cells. Bulletin of Beppu Univ JC. 41:73-77 (2022).

(Book)
田原義太慶, 柴田弘紀, 友永達也. 大蛇全書（グラフィック社）ISBN:978-4766135589.(2022). Amazon.

2021:
Tanaka T, Matsuno Y, Torisu T, Shibata H, Hirano A, Umeno J, Kawasaki K, Fujioka S, Fuyuno Y, Moriyama T, Esaki M, Kitazono T. Gastric Microbiota in Patients with Helicobacter pylori-negative Gastric MALT Lymphoma. Medicine (Baltimore) 100(38): e27287 (2021).PubMed, Open Access.

Shibata E, Morita K, Kayamori K, Tange S, Shibata H, Harazono Y, Michi Y, Ikeda T, Harada H, Imoto I, Yoda T. Detection of novel fusion genes by next generation sequencing-based targeted RNA-sequencing analysis in adenoid cystic carcinoma of head and neck. Oral Surg Oral Med Oral Pathol Oral Radiol. 132(4): 426-433 (2021).PubMed.

Miura S, Shimojo T, Morikawa T, Kamada T, Uchiyama Y, Kurata S, Fujioka R, Shibata H. Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA. J Hum Genet. 66(8):805-811 (2021).PubMed.

Morikawa T, Miura S, Tateishi T, Noda K, Shibata H. A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene. Hum Genome Var. 8:21 (2021).PubMed, Open Access.

Morikawa T, Ohishi H, Kosaka K, Shimojo T, Nagano A, Taniguchi I, Fujioka R, Moriyama K, Unoki M, Takahashi M, Nakao M, Izumi Y, Bamba T, Sasaki H , Miura S, Shibata H. Ddhd1 knockout mouse as a model for familial spastic paraplegia. Biosci Rep. 41(2): BSR20204171 (2021). PubMed, Open Access.

2020:
Gakuhari T, Nakagome S, Rasmussen S, Allentoft M, Sato T, Korneliussen T, Chuinneagáin BN, Matsumae H, Koganebuchi K, Schmidt R, Mizushima S, Kondo O, Shigehara N, Yoneda M, Kimura R, Ishida H, Masuyama T, Yamada Y, Tajima A, Shibata H, Toyoda A, Tsurumoto T, Wakebe T, Shitara H, Hanihara T, Willerslev E, Sikora M, Oota H. Ancient Jomon genome sequence analysis sheds light on migration patterns of early East Asian populations. Commun Biol. 3(1): 437 (2020).PubMed, Open Access.

Miura S, Kosaka K, Shimojo T, Matsuura E, Noda K, Fujioka R, Mori S, Umehara F, Iwaki T, Yamamoto K, Saitsu H, Shibata H. Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough. J Hum Genet. 65(9): 717-725 (2020).PubMed, Electronic version.

Inamaru K, Takeuchi A, Maeda M, Shibata H, Fukumaki Y, Oda-Ueda N, Hattori S, Ohno M, Chijiwa T. Discovery of the gene encoding novel Small Serum Protein (SSP), SSP-6, of Protobothrops flavoviridis snake and evolutionary pathway of SSPs. Toxins (Basel). 12(3): 177 (2020).PubMed, Open Access.

Suryamohan K, Krishnankutty SP, Guillory J, Jevit M, Schroeder M, Wu M, Kuriakose B, Perumal RC, Koludarov I, Mathew OK, Goldstein LD, Senger K, Vargas D, Chaudhuri S, Muraleedharan M, Goel R, Chen YJJ, Ratan A, Liu P, Faherty B, Shibata H, Baca M, Sagolla M, Ziai J, Wright GA, Stinson J, Kirkpatrick DS, Hannoush RN, Durinck S, Modrusan Z, Stawiski EW, Wiley K, Raudsepp T, Kini RM, Zachariah A, Seshagiri S. The Indian cobra genome and transcriptome enables comprehensive identification of venom toxins. Nat Genet. 52: 106-117 (2020).PubMed, Open Access.

Zeze K, Hirano A, Torisu T, Esaki M, Shibata H, Moriyama T, Umeno J, Fujioka S, Okamoto Y, Fuyuno Y, Matsuno Y, Kitazono T. Mucosal dysbiosis in patients with gastrointestinal follicular lymphoma. Hematol Oncol. 38(2): 181-188 (2020).PubMed, Open Access.

Fujioka R, Okamoto A, Nagano A, Morikawa T, Shibata H. Growth responses of PC-12 cells to dried shiitake (Lentinula edodes) extract. Bulletin of Beppu Univ JC. 39:63-67 (2020).

(Review article)
Ogawa T, Shibata H. Venomics study of Protobothrops flavoviridis snake: Habu snake venomics: How venom proteins have evolved? In: Pinar Erkekoglu (eds) Medical Toxicology (ISBN 978-1-83880-278-3) (2020).Direct link.

(Book)
田原義太慶, 柴田弘紀, 友永達也. 毒ヘビ全書（グラフィック社）ISBN:978-4766133134.(2020). Amazon.

2019:
Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T, Fujioka R, Taniwaki T, Shibata H. TDRKH is a candidate gene responsible for an autosomal dominant distal hereditary motor neuropathy. Eur J Med Genet. 62(12): 103594 (2019).PubMed

Ogawa T, Oda-Ueda N, Hisata K, Nakamura H, Chijiwa T, Hattori S, Isomoto A, Yugeta H, Yamasaki S, Fukumaki Y, Ohno M, Satoh N, Shibata H. Alternative mRNA splicing in three venom families underlying a possible production of divergent venom proteins of the Habu snake, Protobothrops flavoviridis. Toxins (Basel). 11: 581 (2019).PubMed, Open Access.

Chijiwa T, Inamaru K, Takeuchi A, Maeda M, Yamaguchi K, Shibata H, Hattori S, Oda-Ueda N, Ohno M. Unique structure (construction and configuration) and evolution of the array of small serum protein genes of Protobothrops flavoviridis snake. Biosci Rep. 39(7) BSR20190560 (2019).PubMed, Open Access.

Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, Irie A, Takayuki Taniwaki T, Shibata H. Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. Eur J Med Genet. 62: 172-176 (2019).PubMed.

Fujioka R, Nagai J, Yamanishi Y, Shibata H. Correlation analysis between thyroid-related hormones and the plasma concentration of amino acids. Bulletin of Beppu Univ JC. 38:17-23 (2019).

(Review article)
小川智久, 柴田弘紀.「ベノミクス研究」の最前線：動物毒は，どのように進化してきたのか？化学と生物 57(5): 289-295 (2019).J-Stage, PDF.

2018:
Ogawa T, Sekikawa A, Sato H, Muramoto K, Shibata H, Hattori S. Proteomic analysis of venomous fang matrix proteins of Protobothrops flavoviridis (Habu) snake. In: Endo K, Kogure T, Nagasawa H. (eds) Biomineralization. Springer, Singapore (2018). (Book Chapter)Open Access.

Iwanishi S, Zaitsu S, Shibata H, Nitasaka E. An albino mutant of the Japanese rat snake (Elaphe climacophora) carries a nonsense mutation in the tyrosinase gene. Genes Genet Syst. 93: 163-167 (2018).PubMed.

Shibata H, Chijiwa T, Oda-Ueda N, Nakamura H, Yamaguchi K, Hattori S, Matsubara K, Matsuda Y, Yamashita A, Isomoto A, Mori K, Tashiro K, Kuhara S, Yamasaki S, Fujie M, Goto H, Koyanagi R, Takeuchi T, Fukumaki Y, Ohno M, Shoguchi E, Hisata K, Satoh N, Ogawa T. The habu genome reveals an evolutionary background of venom protein genes. Sci Rep. 8: 11300 (2018).PubMed, Open Access.

Koganebuchi K, Gakuhari T, Takeshima H, Sato K, Fujii K, Kumabe T, Kasagi S, Sato T, Tajima A, Shibata H, Ogawa M, Oota H. A new targeted capture method using bacterial artificial chromosome (BAC) libraries as baits for sequencing relatively large genes. PLoS One 13(7): e0200170 (2018).PubMed, Open Access.

McColl H, Racimo F, Vinner L, Demeter F, Gakuhari T, Mayar JVM, van Driem G, Wilken UG, Seguin-Orlando A, Castro CF, Wasef S, Shoocongdej R, Souksavatdy V, Sayavongkhamdy T, Saidin MM, Allentoft M, Sato T, Korneliussen T, Prohaska A, Margarayan A, Damgaard PB, Kaewsutthi S, Lertrit P, Nguyen TMH, Hung H, Tran TM, Truong HN, Nguyen GH, Shahidan S, Wiradnyana K, Matsumae H, Shigehara N, Yoneda M, Ishida H, Masuda Y, Yamada Y, Tajima A, Shibata H, Toyoda A, Hanihara T, Nakagome S, Deviese T, Bacon A-M, Duringer P, Ponche J-L, Shackelford L, Patole-Edoumba E, Nguyen AT, Bellina-Pryce B, Galipaud J-C, Kinaston R, Buckley H, Pottier C, Rasmussen S, Higham T, Foley RA, Lahr MM , Orlando L, Sikora M, Oota H, Higham C, Lambert DM, Willerslev E. The prehistoric peopling of Southeast Asia. Science 361: 88-92 (2018).PubMed, Open Access.

Iwaya C, Kitajima H, Yamamoto K, Maeda Y, Sonoda Y, Shibata H, Inoguchi T. DNA methylation of the Klf14 gene region on whole blood provide prediction for the chronic inflammation at the adipose tissue. Biochem Biophys Res Commun. 497: 908-915 (2018).PubMed.

Hirano A, Umeno J, Okamoto Y, Shibata H, Ogura Y, Moriyama T, Torisu T, Fujioka S, Fuyuno Y, Kawarabayashi Y, Matsumoto T, Kitazono T, Esaki M. Comparison of the microbial community structure between inflamed and non-inflamed sites in patients with ulcerative colitis. J Gastroenterol Hepatol. 33: 1590-1597 (2018).PubMed.

Yamaji F, Soeda A, Shibata H, Morikawa T, Suzuki K, Yoshida S, Ogura S. A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment. Acute Med Surg. 5: 199-201 (2018).PubMed, Open Access.

Fujioka R, Miura S, Yamada K, Shibata H. Genetic analysis of a sporadic case of spinocerebellar ataxia type 6(SCA6). Bulletin of Beppu Univ JC. 37:87-91 (2018).

(Review article)
Ogawa T, Sekikawa A, Sato H, Muramoto K, Shibata H, Hattori S. Proteomic analysis of venomous fang matrix proteins of Protobothrops flavoviridis (Habu) snake. In: Endo K, Kogure T, Nagasawa H. (eds) Biomineralization: From Molecular and Nano-structural Analyses to Environmental Science. Springer Nature, Singapore (2018).ResearchGate.

2017:
Shibata H, Sakata S, Hirano Y, Nitasaka E, Sakabe A. Facultative parthenogenesis validated by DNA analyses in the green anaconda (Eunectes murinus). PLoS ONE 12(12): e0189654 (2017).PubMed, Open Access

Miura S, Morikawa T, Fujioka R, Noda K, Kosaka K, Taniwaki T, Shibata H. A novel missense variation (Q220R) of GNB4 encoding a guanine nucleotide-binding protein, beta-4 in a Japanese autosomal dominant motor and sensory neuropathy family. Eur J Med Genet. 60(9): 474-478 (2017).PubMed

Taniguchi I, Iwaya C, Ohnaka K, Shibata H, Ken Yamamoto K. Genome-wide DNA methylation analysis reveals hypomethylation in the low-CpG promoter regions in lymphoblastoid cell lines. Hum Genomics. 11:8 (2017).PubMed, Open Access

Romero V, Hosomichi K, Nakaoka H, Shibata H, Inoue I. Structural comparison and evolution of filaggrin gene within primates. BMC Evol Biol. 17(1):10 (2017).PubMed, Open Access

Fujioka R, Miura S, Aoki K, Motooka H, Shibata H. Unverricht-Lundborg disease with repeat variants in the PCR-based analysis of the CSTB (Cystatin B) gene finding. Bulletin of Beppu Univ JC. 36:71-75 (2017).

2016:
Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwakia T, Shibata H. A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. Eur J Med Genet. 59:413-416 (2016).PubMed

Shibata H, Chijiwa T, Hattori S, Terada K, Ohno M, Fukumaki Y. The taxonomic position and the unexpected divergence of the Habu viper, Protobothrops among Japanese subtropical islands. 2016. Mol Phylogenet Evol. 101:91-100 (2016).PubMed.

Sumida K, Inoue K, Takanashi JI, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. Brain Dev. 38(6):571-80 (2016).PubMed.

Fujioka R, Miura S, Kida H, Shibata H. A novel missense variation (E308D) of SPTBN2 in a Japanese patient with cerebellar ataxia. Bulletin of Beppu Univ JC. 35:11-16 (2016).

2015:
Sano K, Miura S, Fujiwara T, Fujioka R, Yorita A, Noda K, Kida H, Azuma K, Kaieda S, Yamamoto K, Taniwaki T, Fukumaki Y, Shibata H. A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia. J Neurol Sci. 356(1-2):142-7 (2015).PubMed .

Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H. DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis. BMC Genomics 16(1):624 (2015).PubMed, Open Access .

Umene K, Yoshida M, Fukumaki Y. Genetic variability in the region encompassing reiteration VII of herpes simplex virus type 1, including deletions and multiplications related to recombination between direct repeats. SpringerPlus 4:200 (2015).PubMed, Open Access

2014 :
Yamaguchi K, Chijiwa T, Ikeda N, Shibata H, Fukumaki Y, Oda-Ueda N, Hattori S, Ohno M. The finding of a group IIE phospholipase A2 gene in a specified segment of Protobothrops flavoviridis genome and its possible evolutionary relationship to group IIA phospholipase A2 genes. Toxins (Basel). 6(12): 3471-3487 (2014). PubMed, Open Access .

Fujioka R, Nii T, Iwaki A, Shibata A, Ito I, Kitaichi K, Nomura M, Hattori S, Takao K, Miyakawa T, Fukumaki Y. Comprehensive behavioral study of mGluR3 knockout mice: implication in schizophrenia related endophenotypes. Mol Brain. 7:31 (2014).PubMed, Open Access .

Numata Y, Gotoh L, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H, Inoue K. Epidemiological, clinical, and genetic landscapesof hypomyelinating leukodystrophies. J Neurol. 261(4):752-8 (2014). PubMed .

2013 :
Shibata H, Yamamoto K, Sun Z, Oka A, Inoko H, Arinami T, Inada T, Ujike H, Itokawa M, Tochigi M, Watanabe Y, Someya T, Kunugi H, Suzuki T, Iwata N, Ozaki N, Fukumaki Y. Genome-wide association study of schizophrenia using microsatellite markers in the Japanese population. Psychiatr Genet. 23(3):117-23 (2013). PubMed.

Kusuda S, Yasukawa Y, Shibata H, Doi O, Ohya Y, Yoshizaki N. Diversity in the matrix structure of eggshells in the Testudines (Reptilia). Zoolog Sci.30: 366-74 (2013).PubMed.

(Book)
柴田 弘紀. ヒトらしさの進化的起源を精神疾患の遺伝子解析から探る.「ヒトは病気とともに進化した（太田 博樹 (著), 長谷川 眞理子 (著)）」勁草書房. ISBN:978-4-326-19945-7.（2013）Amazon.

2012:
Hamamura M, Okouchi J, Ozawa H, Kimuro Y, Iwaki A, Fukumaki Y. Amphiphysin I but not dynamin I nor synaptojanin mRNA expression increased after repeated methamphetamine administration in the rat cerebrum and cerebellum. J Neural Transm. 120(7):1039-52 (2013). Epub 2012 Dec 8. [Epub ahead of print] Electronic version,PubMed.

Nakagome S, Mano S, Kozlowsli L, Bujnicki JM, Shibata H, Fukumaki Y, Kidd JR, Kidd KK, Kawamura S, Oota H. Crohn’s disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation. Mol Biol Evol. 29(6):1569-85 (2012). Electronic version,PubMed.

Torisu H, Iwaki A, Takeshita K, Hiwatashi A, Sanefuji M, Fukumaki Y, Hara T. Clinical and genetic characterization of a 2-year-old boy with complete PLP1 Deletion. Brain Dev. 34(10):852-6 (2012).

2011 :
Suzuki SO, Iwaki T, Arakawa K, Furuya H, Fujii N, Iwaki A. An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene. Acta Neuropathol. 122 (6):775-781 (2011). Electronic version, PubMed .

Matsuoka T, Fujii N, Kondo A, Iwaki A, Hokonohara T, Honda H, Sasaki K, Suzuki SO, Iwaki T. An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions. Neuropathology 31(1):71-76 (2011). Electronic version, PubMed.

Deng X, Takaki H, Wang L, Kuroki T, Nakahara T, Hashimoto K, Ninomiya H, Arinami T, Inada T, Ujike H, Itokawa M, Tochigi M, Watanabe Y, Someya T, Kunugi H, Iwata N, Ozaki N, Shibata H, Fukumaki Y. Positive association of phencyclidine-responsive genes, PDE4A and PLAT, with schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 156(7):850-858 (2011). Electronic version, PubMed .

Umene K, Fukumaki Y. DNA genome of spontaneously occurring deletion mutants of herpes simplex virus type 1 lacking one copy of the inverted repeat sequences of the L component. Arch Virol. 156(8):1305-1315 (2011)., PubMed.

Miura S, Shibata H, Kida H, Noda K, Toyama T, Iwasaki N, Iwaki A, Ayabe M, Aizawa H, Taniwaki T, Fukumaki Y. Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family. Neurogenetics 12(1):25-31 (2011). Electronic version, PubMed.

2010 :
Sagata NA, Iwaki A, Aramaki T, Takao K, Kura S, Tsuzuki T, Kawakami R, Ito I, Kitamura T, Sugiyama H, Miyakawa T, Fukumaki Y. Comprehensive behavioral study of GluR4 knockout mice, implication in cognitive function. Genes Brain Behav. 9(8):899-909 (2010). Electronic version, PubMed .

Hamamura M, Ozawa H, Ozaki M, Shimazoe T, Terada Y, Fukumaki Y. Repeated administration of methamphetamine blocked cholecystokinin-octapeptide injection-induced c-fos mRNA expression without change in capsaicin-induced junD mRNA expression in rat cerebellum. J Neural Transm. 117(9):1041-53 (2010). Electronic version, PubMed .

Suzuki, N, Aoki, M, Warita, H, Kato, M, Mizuno, H, Shimakura, N, Akiyama, T, Furuya, H, Hokonohara, T, Iwaki, A, Togashi, S, Konno, H, Itoyama, Y. FALS with FUS mutation in Japan with early onset, rapid progress and basophilic inclusion. J Hum Genet. 55(4): 252-4 (2010). PubMed.

Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira JI. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol. 119(3): 355-364 (2010). Electronic version. PubMed.

2009:
Goto H, Watanabe K, Araragi N, Kageyama R, Tanaka K, Kuroki Y, Toyoda A, Hattori M, Sakaki Y, Fujiyama A, Fukumaki Y, Shibata H. The identification and functional implications of human-specific "fixed" amino acid substitutions in the glutamate receptor family. BMC Evol Biol. 9: 224 (2009). Electronic version. PubMed .

Umene K, Kawana T, Fukumaki Y. Serologic and genotypic analysis of a series of herpes simplex virus type 1 isolates from two patients with genital herpes. J Med Virol. 81(9):1605-12 (2009). PubMed.

Shibata H, Tani A, Chikuhara T, Kikuta R, Sakai M, Ninomiya H, Tashiro N, Iwata N, Ozaki N, Fukumaki Y. Association study of polymorphisms in the group III metabotropic glutamate receptor genes, GRM4 and GRM7, with schizophrenia. Psychiatric Res. 167: 88-96 (2009). PubMed.

Kibe T, Miyahara J, Yokochi K, Iwaki A. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease. Brain Dev. 31 (3): 248-51 (2009). PubMed.

Arai S, Shibata H, Sakai M, Ninomiya H, Iwata N, Ozaki N, Fukumaki Y. Association analysis of the glutamic acid decarboxylase 2 and the glutamine synthetase genes (GAD2, GLUL) with schizophrenia. Psychiatric Genet. 19 (1): 6-13 (2009). PubMed.

2008:
Miura S, Shibata H, Kida H, Noda K, Yamamoto K, Iwaki A, Ayabe M, Aizawa H, Taniwaki T, and Fukumaki Y. Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough. J Neurol Sci. 273(1-2): 88-92 (2008). PubMed.

Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H and Fukumaki Y. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia. BMC Psychiatry 8(1):58 (2008). Electronic version. PubMed.

Umene K, Oohashi S, Yoshida M, Fukumaki Y. Diversity of the a sequence of herpes simplex virus type 1 developed during evolution. J Gen Virol. 89(4): 841-52 (2008). Electronic version. PubMed.

Hamamura M, Hirata N, Sawada K, Shuto T, Shimazoe T, Terada Y, Fukumaki Y. Reversal of the expression pattern of Aldolase C mRNA in Purkinje cells and Ube 1x mRNA in Golgi cells by a dopamine D1 receptor agonist injections in the methamphetamine sensitized-rat cerebellum. J Neural Transm. 115(7): 959-71 (2008). Electronic version, PubMed.

Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N, Kira JI, Fukumaki Y. A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A 146(4):459-63 (2008). PubMed.

Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, Furuya H, Ohyagi Y, Taniwaki T, Kira J, Fukumaki Y. Heterozygous deletion of ITPR1, but not SUMF1 in spinocerebellar ataxia type 16. J Med Genet 45(1): 32-5 (2008). PubMed.

2007:
Shibata A, Iwaki A, Fukumaki Y. A novel expression system for artificial miRNA containing no endogenous miRNA precursor sequences. Journal of RNAi and Gene Silencing 3 (1): 237-247 (2007). Electronic version. PuMed

Suzuki A, Hamano S, Shirakawa T, Watanabe K, Endo T, Sharma S, Jha B, Acharya GP, Nishiyama K, Fukumaki Y, Kobayashi S. The distribution of hereditary erythrocytic disorders associated with malaria, in a lowland area of Nepal: a micro-epidemiological study. Ann Trop Med Parasitol 101(2):113-22 (2007). PubMed.

Deng X, Shibata H, Takeuchi N, Rachi S, Sakai M, Ninomiya H, Iwata N, Ozaki N, and Fukumaki Y. Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3 and SLC1A6　with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 144 (3): 271-8 (2007). Electronic version, PubMed.

2006:
Miura S, Shibata H, Furuya H, Ohyagi Y, Osoegawa M, Miyoshi Y, Matsunaga H, Shibata A, Matsumoto N, Iwaki A, Taniwaki T, Kikuchi H, Kira J and Fukumaki Y. The CNTN4 locus at 3p26 is a candidate gene of SCA16. Neurology 67(7):1236-41 (2006). PubMed.

Furuya H, Yamada T, Ikezoe K, Ohyagi Y, Fukumaki Y, Fujii N. An improved method for Southern DNA and Northern RNA blotting using a Mupid(R)-2 Mini-Gel electrophoresis unit. J Biochem Biophys Methods 68(2):139-43 (2006). Electronic version, PubMed.

Shibata H, Aramaki T, Sakai M, Ninomiya H, Tashiro N, Iwata N, Ozaki N and Fukumaki Y. Association study of polymorphisms in the GluR7, KA1 and KA2 kainate receptor genes (GRIK3, GRIK4, GRIK5) with schizophrenia. Psychiatry Res.141(1):39-51 (2006). Electronic version, PubMed.

2005:
The Japanese Schizophrenia Sib-pair Linkage Group. Genome-wide high-density SNP linkage analysis of 236 Japanese families supports the existence of schizophrenia loci on chromosomes 1p, 14q and 20p. Am J Hum Genet. 77 (6): 937-944 (2005). Electronic version, PubMed.

Nikandrov NN, Deshimaru M, Tani A, Chijiwa T, Shibata H, Chang CC, Fukumaki Y, Ito T, Ohno M. Purification, primary structures and evolution of coagulant proteases from Deinagkistrodon actus venom. Toxicon 46 (8): 907-17 (2005). Electronic version, PubMed.

Lee HJ, Song JY, Kim JW, Jin S-Y, Hong MS, Park JK, Chung J-H, Shibata H and Fukumaki Y. Association Study of polymorphisms in synaptic vesicle-associated genes, SYN2 and CPLX2, with schizophrenia. Behav Brain Funct. 1:15 (2005). Electronic version, PubMed.

Makino C, Shibata H, Ninomiya H, Tashiro N, Fukumaki Y. Identification of single-nucleotide polymorphisms in the human N-methyl-D-aspartate receptor subunit NR2D gene, GRIN2D, and association study with schizophrenia. Psychiatr Genet 15(3):215-221 (2005). PubMed.

Furuya H, Shinnoh N, Ohyagi Y, Ikezoe K, Kikuchi H, Osoegawa M, Fukumaki Y, Nakabeppu Y, Hayashi T, Kira J. Some flavonoids and DHEA-S prevent the cis-effect of expanded CTG repeats in a stable PC12 cell transformant. Biochem Pharmacol. 69(3): 503-516 (2005). Epub 2004 Dec 15. Electronic version, PubMed.

2004:
Hamamura M, Watanabe S, Fukumaki Y. Selective changes in the shapes of parasagittal bands of Aldoc (Zebrin) mRNA in the rat vermis of the cerebellum after repeated methamphetamine injections. Cerebellum. 3(4):236-4 (2004). PubMed.

Deng XD, Shibata H, Ninomiya H, Tashiro N, Iwata N, Ozaki N and Fukumaki Y. Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia. BMC Psychiatry.4(1): 21 (2004). Electronic version, PubMed.

Takaki H, Kikuta R, Shibata H, Ninomiya H, Tashiro N and Fukumaki Y. Positive associations of polymorphisms in the metabotropic glutamate receptor type 8 gene (GRM8) with schizophrenia. Am J Med Genet. 128B: 6-14 (2004) Electronic version, PubMed.

Ijichi N, Tsujimoto N, Iwaki T, Fukumaki Y and Iwaki A. Distal Sox binding elements of the αB-crystallin gene show lens enhancer activity in transgenic mouse embryos. J Biochem. 135 (3): 413-420 (2004). Electronic version, PubMed

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura K. TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. Am J Med Genet. 127A(1):104-7 (2004). Electronic version, PubMed.

2003:
Fukumaki Y, Shibata H. Glutamate receptor genes as candidates for schizophrenia susceptibility. Drug Dev Res. 60 (2): 137-151 (2003) (Review).

Moriyama K, Hayashida K, Shimada M, Nakano S, Nakashima Y, Fukumaki Y. Antisense RNAs transcribed from the upstream region of the precore/core promoter of hepatitis B virus. J Gen Virol. 84(Pt 7):1907-13 (2003). Electronic version, PubMed.

The Japanese Schizophrenia Sib-pair Linkage Group. Initial genome-wide scan for linkage with schizophrenia in the Japanese Schizophrenia Sib-pair Linkage Group (JSSLG) families. Am J Med Genet 120B(1): 22-8 (2003). Electronic version, PubMed.

Fujii Y, Shibata H, Kikuta R, Makino C, Tani A, Hirata N, Shibata A, Ninomiya H, Tashiro N, Fukumaki Y. Positive associations of polymorphisms in the metabotropic glutamate receptor type 3 gene (GRM3) with schizophrenia. Psychiatr Genet. 13(2):71-6 (2003). PubMed.

Chijiwa T, Yamaguchi Y, Ogawa T, Deshimaru M, Nobuhisa I, Nakashima K, Oda-Ueda N, Fukumaki Y, Hattori S, Ohno M. Interisland evolution of Trimeresurus flavoviridis venom phospholipase A(2) isozymes. J Mol Evol. 56(3):286-93 (2003). Electronic version, PubMed.

Makino C, Fujii Y, Kikuta R, Hirata N, Tani A, Shibata A, Ninomiya H, Tashiro N, Shibata H, Fukumaki Y. Positive association of the AMPA receptor subunit GluR4 gene (GRIA4) haplotype with schizophrenia: linkage disequilibrium mapping using SNPs evenly distributed across the gene region. Am J Med Genet 116B(1): 17-22 (2003). Electronic version, PubMed.

2002:
Shibata H, Shibata A, Ninomiya H, Tashiro N, Fukumaki Y. Association study of polymorphisms in the GluR6 kainate receptor gene (GRIK2) with schizophrenia. Psychiatry Res 113(1-2): 59-67 (2002). Electronic version, PubMed.

Tani A, Kikuta R, Itoh K, Joo A, Shibata H, Ninomiya H, Tashiro N, Fukumaki Y. Polymorphism analysis of upstream regions of the human N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1): implications for schizophrenia. Schizophr Res 58(1): 83-86 (2002). Electronic version, PubMed.

Tani A, Ogawa T, Nose T, Nikandrov NN, Deshimaru M, Chijiwa T, Chang C-C, Fukumaki Y, Ohno M. Characterization, primary structure and molecular evolution of anticoagulant protein from Agkistrodon actus venom. Toxicon 40: 803-13 (2002). Electronic version, PubMed.

2001:
Shibata H, Joo A, Fujii Y, Tani A, Makino C, Hirata N, Kikuta R, Ninomiya H, Tashiro N, Fukumaki Y. Association study of polymorphisms in the coding region of the GluR5 kainate receptor gene (GRIK1) with schizophrenia. Psychiatr Genet 11: 139-144 (2001). PubMed.

Nakagawa M, Tsujimoto N, Nakagawa H, Iwaki T, Fukumaki Y, Iwaki A. Association of HSPB2, a member of the small heat shock protein family, with mitochondria. Exp Cell Res 271: 161-168 (2001). Electronic version, PubMed.

Kiehl TR, Shibata H, Huynh DP, Vo T, Pulst SM. Identification and expression of a mouse ortholog of A2BP1. Mammalian Genome 12 (8): 595-601 (2001). PubMed.

Sadamitsu C, Nagano T, Fukumaki Y, Iwaki A. Heat shock factor 2 is involved in the upregulation of αB-crystallin by high extracellular potassium. J Biochem 129: 813-820, 2001. Electronic version, PubMed.

Joo A, Shibata H, Ninomiya H, Kawasaki H, Tashiro N, Fukumaki Y. Structure and polymorphisms of the human metabotropic glutamate receptor type 2 gene(GRM2): analysis of association with schizophrenia. Mol Psychiatry 6: 186-192, 2001. Electronic version, PubMed.

Mitsuyasu H, Hirata N, Sakai Y, Shibata H, Takeda Y, Ninomiya H, Kawasaki H, Tashiro N, Fukumaki Y. Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptorgene (DRD4) with schizophrenia and personality traits. J Hum Genet 46: 26-31, 2001. Electronic version, PubMed.

Mizuno S, Chijiwa T, Okamura T, Akashi K, Fukumaki Y, Niho Y, Sasaki H. Expression of DNA methyltransferases DNMT1, 3A, and 3B in normal hematopoiesis and in acute and chronic myelogenous leukemia. Blood 97:1172-1179, 2001. Electronic version, PubMed.

2000:
Kiehl TR, Shibata H, Pulst SM. The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J Mol Neurosci 15 (3): 231-241 (2000). Electronic version, PubMed.

Shirohzu H, Yamaza H, Fukumaki Y. Repression of aberrant splicing in human β-globin pre-mRNA with HbE mutation by antisense oligoribonucleotide or splicing factor SF2/ASF. Int J Hematol 72:28-33, 2000. PubMed.

Matsumoto M, Yamaguchi T, Nakazono K, Fukumaki Y, Terada S. High pressure sensitizes murine erythroleukemia cells to caffeine-induced premature mitosis. Jpn J Physiol 50: 329-336, 2000. Electronic version, PubMed.

Shibata H, Huynh DP, Pulst SM. A novel protein with RNA binding motif binds to C-terminal ataxin-2. Hum Mol Genet 9 (9): 1303-1313 (2000). Electronic version, PubMed.

Sakai Y, Kobayashi S, Shibata H, Furuumi H, Endo T, Fucharoen S, Hamano S, Acharya GP, Kawasaki T, Fukumaki Y. Molecular analysis of α-thalassemia in Nepal: correlation with malaria endemicity. J Hum Genet 45:127-32, 2000. Electronic version, PubMed.

Chijiwa T, Deshimaru M, Nobuhisa I, Nakai M, Ogawa T, Oda N, Nakashima K, Fukumaki Y, Shimohigashi Y, Hattori S, Ohno M. Regional evolution of venom-gland phospholipase A2 isoenzymes of Trimeresurus flavoviridis snakes in the southwestern islands of Japan. Biochem J 347: 491-499, 2000. Electronic version, PubMed.

Imai J, Ieiri I, Mamiya K, Miyahara S, Furuumi H, Nanba E, Yamane M, Fukumaki Y, Ninomiya H, Tashiro N, Otsubo K, Higuchi S. Polymorphism of the cytochrome P450 (CYP) 2C9 gene in Japanese epileptic patients: genetic analysis of the CYP2C9 locus. Pharmacogenetics 10: 85-89, 2000. Electronic version, PubMed.

Chuman Y, Nobuhisa I, Ogawa T, Deshimaru M, Chijiwa T, Tan NH, Fukumaki Y, Shimohigashi Y, Ducancel F, Boulain JC, Menez A, Ohno M. Regional and accelerated molecular evolution in group I snake venom gland phospholipase A2 isozymes. Toxicon 38: 449-462, 2000. Electronic version, PubMed.