【研究業績】

2017
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

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 .

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.

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 6(12): 3471-3487 (2014).
PubMed .

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. Molecular brain 7:31 (2014).
PubMed .

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

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. 2011 Dec;122(6):775-781. 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. 2011 Feb;31(1):71-76.
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. 2011 Dec;156(7):850-858. 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. 2011 Aug;156(8):1305-1315. [
Epub ahead of print], 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. 2011 Feb;12(1):25-31. 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. 2010 Nov;9(8):899-909.
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. 2010 Sep;117(9):1041-53. 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 Y, 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 Develop 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.

1999:
Mitsuyasu H, Ozawa H, Takeda Y, Fukumaki Y. Novel polymorphisms in the upstream region of the human dopamine D4 receptor (
DRD4) gene. J Hum Genet 44: 416-418, 1999. Electronic version, PubMed.

Nopparatana C, Saechan V, Nopparatana C, Pornpatkul M, Panich V, Fukumaki Y. A novel 105 basepair deletion causing β0-thalassemia in members of a Thai family. Am J Hematol 61: 1-4, 1999.
Electronic version, PubMed.

Inoue T, Yamaza H, Sakai Y, Mizuno S, Ohno M, Hamasaki N, Fukumaki Y. Position-independent human β-globin gene expression mediated by a recombinant adeno-associated virus vector carrying the chicken β-globin insulator. J Hum Genet 44: 152-162, 1999.
Electronic version, PubMed.

Hamamura M, Ozawa H, Kimuro Y, Higasa K, Iwaki A, Fukumaki Y. Differential dicreases in c-fos and aldolase C mRNA expression in the rat cerebellum after repeated methamphetamine administration. Mol Brain Res 64: 119-131, 1999.
Electronic version, PubMed.

1998:
Higasa K, Manabe J, Yubisui T, Sumimoto H, Amritt P, Tanpahichitr V, Fukumaki Y. Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene. Brt J Haematol 103: 922-930, 1998.
Electronic version, PubMed.

Nobuhisa I, Ogawa T, Deshimaru M, Chijiwa T, Nakashima K, Chuman Y, Shimohigashi Y, Fukumaki Y, Hattori S, Ohno M. Retrotramsposable CR1-like elements in crotalinae snake genomes. Toxicon 36: 915-920, 1998.
Electronic version, PubMed.

Yamada M, Komatsu N, Kirito K, Kashii Y, Tomizuka H, Okada K, Endo T, Fukumaki Y, Shinjo K, Abe K, Miura Y. Thrombopoietin supports
in vitro erythroid differentiation via its specific receptor c-MpI in a human leukemia cell line. Cell Growth & Differentiation 9: 487-496, 1998. Electronic version, PubMed.

Nobuhisa I, Chiwata T, Fukumaki Y, Hattori S, Shimohigashi Y, Ohno M. Structural elements of
Trimeresurus flaviridis serum inhibitors for recognition of its venome phospholipase A2 isozymes. FEBS Letters 429: 385-389, 1998. Electronic version, PubMed.

Furuumi H, Firdous N, Inoue T, Ohta H, Winichagoon P, Fucharoen S, Fukumaki Y. Molecular basis of β-thalassemia in the Maldives. Hemoglobin 22: 141-151, 1998.
PubMed.

Tanphaichitr V, Mahasandana C, Pung-amritt P, Veerakul G, Kankirawatana S, Suvatte V, Tritilanunt S, Fukumaki Y. Type I and II hereditary methemoglobinemia due to NADH-cytochrome b5 reductase deficiency in Thai patients. Internal Medicine 13: 81-85, 1998.

Mizuki K, Kadomatsu K, Hata K, Ito T, Fan Q, Kage Y, Fukumaki Y, Sakaki Y, Takeshige K, Sumimoto H. Functional modules and expression of mouse p40phox and p65phox, SH3-domain-containing proteins involved in the phagocyte NADPH oxidase complex. Eur. J. Biochem. 251: 573-582, 1998.
Electronic version, PubMed.

Mamiya K, Ieiri I, Miyahara S, Imai J, Furuumi H, Fukumaki Y, Ninomiya H, Tashiro N, Yamada H, Higuchi S. Association of polymorphisms in the cytochrome P450 (CYP)2C19 and 2C18 genes in Japanese epileptic patients. Pharmacogenetics 8: 87-90, 1998.
PubMed.

Matsumoto M, Yamaguchi T, Fukumaki Y, Yasunaga R, Terada S. High pressure induces G2 arrest in murine erythroleukemia cells. J Biochem 123: 87-93, 1998.
Electronic version, PubMed.

1997:
Sriroongrueng W, Schleiemacher E, Panich V, Nopparatana C, Saechan V, Laosombat V, Pornpatkul M, Fukumaki Y. Analysis of b-thalassemia mutations and β-locus control region hypersensitive sites 2,3 and 4 in Southern Thailand. SoutheastAsian J Trop Med Pub Health 28: 120-127, 1997.
PubMed.

Fucharoen S, Fucharoen G, Sae-ung N, Sanchaisuriya K, Fukumaki Y. Molecular and hematological characterization of Hb Tak and Hb Pyrgos in Thailand. Southeast Asian J Trop Med Pub Health 28: 110-114, 1997.
PubMed.

Fukumaki Y. Recent advances in medical genetics: what we have done and what we will do. Southeast Asian J Trop Med Public Health. 28 Suppl 3:43-5, 1997
PubMed.

Nobuhisa I, Inamasu S, Nakai M, Tatsui A, Mimori T, Ogawa T, Shimohigashi Y, Fukumaki Y, Hattori S, Kihara H, Ohno, M. Characterization and evolution of a gene encoding a Trimeresurus flavoviridis serm protein that inhibits basic phosphlipase A2 isozymes in the snake's venom. Eur J Biochem 249: 838-845, 1997.
Electronic version, PubMed.

Iwaki A, Nagano T, Nakagawa M, Iwaki T, Fukumaki Y. Identification and characterization of the gene encoding a new member of the αB-crystallin/small hsp family, closely linked to the αB-crystallin gene in a head-to-head manner. Genomics 45: 386-394, 1997.
Electronic version, PubMed.

Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, Saito Y, Koike R, Tsuji S, Fukumaki Y, Hayashi K, Kobayashi T. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Hum Gnenet 100: 450-456, 1997.
Electronic version, PuBMed.

Kamakura S, Iwaki A, Matsumoto M, Fukumaki Y. Cloning and characterization of the 5'-flanking region of the human dopamine D4 receptor gene. Biochem Biophys Res Commun 235: 321-326, 1997.
Electronic version, PubMed.

Nobuhisa I, Deshimaru M, Chijiwa T, Nakashima K, Ogawa T, Shimohigashi Y, Fukumaki Y, Hattori S, Kihara H, Ohno M. Structures of genes encoding phospholipase A2 inhibitors from the serum of Trimeresurus flaviridis snake. Gene 191: 31-37, 1997.
Electronic version, PubMed.

Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H, Cho HI, Park SS. β-Thalassemia mutations in Japanese and Koreans. Hemoglobin 21: 191-200, 1997.
PubMed.

1996:
Deshimaru M, Ogawa T, Nakashima K, Nobuhisa I, Chijiwa T, Shimohigashi Y, Fukumaki Y, Niwa M, Yamashina I, Hattori S, Ohno M. Accelerated evolution of crotalinae snake venom gland serine proteases. FEBS Letters 397: 83-88, 1996.
Electronic version, PubMed.

Ogawa T, Nakashima K, Nobuhisa I, Deshimaru M, Shimohigashi Y, Fukumaki Y, Sakaki Y, Hattori S, Ohno M. Accelerated evolution of snake venom phospholipase A2 isozymes for aquisition of diverse physiological functions. Toxicon 34: 1229-1236, 1996.
PubMed

Manabe J, Roopen A., Sumimoto, H., Yubisui, T., Bellingham, A.J., Layton, D.M. and Fukumaki, Y. Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia. Blood 88: 3208-3215, 1996.
Electronic version, PubMed.

Sumimoto H, Hata K, Mizuki K, Ito T, Kage Y, Sakaki Y, Fukumaki Y, Nakamura M, Takeshige K. Assembly and activation of the phagocyte NADPH oxidase. J Biol Chem 271: 22152-22158, 1996.
Electronic version, PubMed.

Nobuhisa I, Nakashima K, Deshimaru M, Ogawa T, Shimohigashi Y, Fukumaki Y, Sakaki Y, Hattori S, Kihara H, Ohno M. Accelerated evolution of Trimeresurus okinavensis venom gland phopholipase A2 isozyme-encoding genes. Gene 172: 267-272, 1996.
Electronic version, PubMed.

Kegel KB, Iwaki A, Iwaki T, Goldman JE. αB-crystallin protects glial cells from hypertonic stress. Am J Physiol 270. C903-C909, 1996.
Electronic version, PubMed.

1995:
Toyoda A, Fukumaki Y, Hattori M, Sakaki Y. Mode of activation of the GC box/Sp1-dependent promoter of the human NADH-cytochrome b5 reductase-encoding gene. Gene 164: 351-355, 1995.
Electronic version, PubMed.

Matsuda M, Hatano N, Ideguchi H, Takahira H, Fukumaki Y. A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame). Hum Mol Genet 4: 1187-1191, 1995.
PubMed.

Nakashima K, Nobuhisa I, Deshimaru M, Nakai M, Ogawa T, Shimohigashi Y, Fukumaki Y, Hattori M, Sakaki Y, Hattori S, Ohno M. Accelerated evolution in the protein-coding regions is universal in crotalinae snake venom gland phospholipase A2 isozyme genes. Proc Nat Acad Sci USA 92: 5605-5609, 1995.
Electronic version, PubMed.

Winichagoon P, Fucharoen S, Kanokpongsakdi S, Fukumaki Y. Detection of a-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis. Clin Genet 47: 318-320, 1995.
PubMed.

Iwaki T, Iwaki A, Fukumaki Y, Tateishi J. αB-crystallin in C6 glioma cells supports their survival in elevated extracellular K+: the implication of a protective role of αB-crystallin accumulation in reactive glia. Brain Res 673: 47-52, 1995.
Electronic version, PubMed.

Nakashima K, Nobuhisa I, Deshimaru M, Ogawa T, Shimohigashi Y, Fukumaki Y, Hattori M, Sakaki Y, Hattori S, Ohno M. Structures of gene encoding TATA box-binding protein from
Trimeresurus gramineus and T. flavoiridis snakes. Gene 152: 209-213, 1995. Electronic version, PubMed.

Fucharoen S, Fucharoen G, Ratanasiri T, Jetsrisuparb A, Fukumaki Y. A simple non radioactive method for detecting β-thalassemia disease: Application to prenatal diagnosis. Southeast Asian J Trop Med Public Health 26: 278-281, 1995.
PubMed.

Winichagoon P, Fucharoen S, Wilairat P, Chihara K, Fukumaki Y. Role of alternatively spliced βE-globin mRNA on clinical severity of β-thalassemia/hemoglobin E disease. Southeast Asian J Trop Med Public Health 26: 241-245, 1995.
PubMed.

Winichagoon P, Fucharoen S, Wilairat P, Fukumaki Y. Molecular mechanisms of thalassemia in Southeast Asia. Southeast Asian J Trop Med Public Health 26: 235-240, 1995.
PubMed.

Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y. The spectrum of β-thalassemia mutations in Southern Thailand. Southeast Asian J Trop Med Public Health 26: 229-234, 1995.
PubMed.

Katsube T, Fucharoen S, Tojo H, Fukumaki Y. Molecular analysis of the human fetal-to-adult globin switching. Southeast Asian J Trop Med Public Health 26: 212-220, 1995.
PubMed.

Kumano Y, Manabe J, Hamamoto M, Kawano YI, Minagawa H, Fukumaki Y, Inomata H. Detection of varicella-zoster virus genome having a
Pst I site in the ocular sample from patient with acute retinal necrosis. Ophthalmic Res 27: 310-316 , 1995. PubMed.

Katsube Y, Fukumaki Y. A role for the distal CCAAT box of the γ-globin gene in Hb switching. J Biochem 117: 68-76, 1995.
PubMed

1994:
Takaoka Y, Ideguchi H, Matsuda M, Sakamoto N, Takeuchi T, Fukumaki Y. A novel mutation in the erythroyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2Fukuoka). Brit J Haematol 88: 527-533, 1994.
PubMed.

Takahashi-Fujii A, Ishino Y, Kato I, Fukumaki Y. Rapid and practical detection of β-globin mutations causing β-thalassmeia by fluorescence-based PCR-single-strand conformation polymorphism analysis. Mol Cell Prob 8: 385-393, 1994.
Electronic version, PubMed.

Fucharoen S, Fucharoen G, Ratanasiri T, Jetsrisuparb A, Fukumaki Y. A simple non-radioactive assay for hemoglobin E gene in prenatal diagnosis. Clin Chim Acta 229: 197-203, 1994.
PubMed.

Winichagoon P, Fucharoen S, Wilairat P, Chihara K, Fukumaki Y. Nondeletional type of hereditary persistence of fetal haemoglobin: molecular characterization of three unrelateed Thai HPFH. Brit J Haematol 87: 797-804, 1994.
PubMed.

Fernando MR, Sumimoto H, Nanri H, Kawabata S, Iwanaga S, Minakami S, Fukumaki Y, Takeshige K. Cloning and sequencing of the cDNA encoding human glutaredoxin. Biochim Biopys Act 1218: 229-231, 1994.
PubMed.

Sumimoto H, Kage Y, Nunoi H, Sasaki H, Nose T, Fukumaki Y, Ohno M, Minakami S, Takeshige K. Role of Src homology 3 domains in assembly and activation of the phagocyte NADPH oxidase. Proc Nat Acad Sci USA 91: 5345-5349, 1994.
Electronic version, PubMed.

Iwaki T, Iwaki A, Tateishi J, Goldman JE. Sense and antisense modification of glial aB-crystallin production results in alteration of stress fiber formation and thermoresistance. J Cell Biol 125, 1385-1393, 1994.
Electronic version, PubMed.

Endo T, Ishibashi Y, Shiokawa S, Fukumaki Y, Okano H. Differential induction of adult and fetal globin gene expression in the human CML cells subline KU-812F/33. J Biochem 115: 540-544, 1994.
Electronic version, PubMed.

Endo T, Ishibashi Y, Okano H, Fukumaki Y. Significance of pH on differentiation of human erythroid cell lines. Leukemia Res 18: 49-54, 1994.
PubMed.

Sawai H, Furumi H, Takeda Y, Matsuda T, Tashima M, Sawada H, Okuma M, Fukumaki Y. A case of homozygous β-thalassemia associated with limb-gardle muscular dystrophy (LGD). Jap Arch Int Med 41: 229-233, 1994.

Wakamatsu C, Ichinose M, Manabe JI, Fucharoen S, Sawada H, Ohga S, Nishimura J, Nukina H, Harada T, Shirahata S, Moriwaki Y, Uike N, Kozuru M, Ohi N, Mineta M, Nomiyama M, Fukumaki Y. Molecular basis of β-thalassemia in Japan: Heterogeneity and origins of mutations. Acta Haematol 91: 136-143, 1994.
PubMed.