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齋藤 伸治サイトウ シンジ

所属部署医学研究科新生児・小児医学分野
職名教授
メールアドレスss11med.nagoya-cu.ac.jp
ホームページURLhttp://www.ncu-ped.com/index.html
生年月日
Last Updated :2019/07/06

研究者基本情報

基本情報

    科研費研究者番号:00281824
    ORCID ID:0000-0001-6911-3351

学歴

  • 1979年04月 - 1985年03月, 北海道大学, 医学部

所属学協会

  • 日本小児科学会
  • 日本小児神経学会
  • 日本小児遺伝学会
  • 日本人類遺伝学会
  • 日本てんかん学会
  • 日本睡眠学会

経歴

  •   2011年04月 - 現在, 名古屋市立大学大学院医学研究科, 新生児・小児医学分野, 教授
  •   1995年10月 - 2011年03月, 北海道大学病院, 小児科
  •   1993年08月 - 1995年09月, ケースウエスタンリザーブ大学, 遺伝学
  •   1992年09月 - 1993年07月, フロリダ大学医学部, 神経科学
  •   1991年04月 - 1992年08月, 長崎大学, 原研遺伝
  •   1985年04月 - 1991年03月, 北海道大学病院および関連病院, 小児科

研究活動情報

研究分野

  • 内科系臨床医学, 小児科学

研究キーワード

    知的障害, 神経発達, 遺伝子診断, エピジェネティクス

論文

  • Endometriosis and Recurrent Pregnancy Loss as New Risk Factors for Venous Thromboembolism during Pregnancy and Post-Partum: The JECS Birth Cohort., Sugiura-Ogasawara M, Ebara T, Matsuki T, Yamada Y, Omori T, Matsumoto Y, Kato S, Kano H, Kurihara T, Saitoh S, Kamijima M, and the Japan Environment & Children's Study (JECS) Group., Thrombosis and haemostasis,   2019年02月, 査読有り
  • Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions., Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M, Clinical epigenetics, 11, (1) ,   2019年02月, 査読有り
  • Adverse pregnancy and perinatal outcome in patients with recurrent pregnancy loss: Multiple imputation analyses with propensity score adjustment applied to a large-scale birth cohort of the Japan Environment and Children's Study., Sugiura-Ogasawara M, Ebara T, Yamada Y, Shoji N, Matsuki T, Kano H, Kurihara T, Omori T, Tomizawa M, Miyata M, Kamijima M, Saitoh S, Japan Environment,Children’s Study (JECS) Group., American journal of reproductive immunology (New York, N.Y. : 1989), 81, (1) ,   2019年01月, 査読有り
  • A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy., Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H, American journal of medical genetics. Part A,   2019年01月, 査読有り
  • Intrauterine growth and the maturation process of adrenal function., Iwata S, Kinoshita M, Okamura H, Tsuda K, Saikusa M, Harada E, Saitoh S, Iwata O, PeerJ, 7,   2019年, 査読有り
  • MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome., Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S, Journal of medical genetics,   2018年12月, 査読有り
  • Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood., Kato K, Mizuno S, Inaba M, Fukumura S, Kurahashi N, Maruyama K, Ieda D, Ohashi K, Hori I, Negishi Y, Hattori A, Saitoh S, Brain & development, 40, (8) 678 - 684,   2018年09月, 査読有り
  • Feeding-induced cortisol response in newborn infants., Kinoshita M, Iwata S, Okamura H, Tsuda K, Saikusa M, Harada E, Yamashita Y, Saitoh S, Iwata O, The Journal of clinical endocrinology and metabolism,   2018年08月, 査読有り
  • Estimation of elevated intracranial pressure in infants with hydroce-phalus by using transcranial Doppler velocimetry with fontanel compression., Yoshizuka T, Kinoshita M, Iwata S, Tsuda K, Kato T, Saikusa M, Shindou R, Hara N, Harada E, Takashima S, Takeshige N, Saitoh S, Yamashita Y, Iwata O, Scientific reports, 8, (1) ,   2018年08月, 査読有り
  • A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome., Hori I, Miya F, Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Journal of human genetics,   2018年06月, 査読有り
  • Phenotype variability and allelic heterogeneity in KMT2B-Associated disease., Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Kaji R, Parkinsonism & related disorders,   2018年04月, 査読有り
  • IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis., Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Tsunoda T, Scientific reports,   2018年04月, 査読有り
  • Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population., Mushiroda T, Takahashi Y, Onuma T, Yamamoto Y, Kamei T, Hoshida T, Takeuchi K, Otsuka K, Okazaki M, Watanabe M, Kanemoto K, Oshima T, Watanabe A, GENCAT Study Group, JAMA neurology,   2018年04月, 査読有り
  • Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract., Ohshita H, Kawase K, Takagi D, Kondo S, Saitoh S, Journal of pediatric hematology/oncology,   2018年03月, 査読有り
  • Antiviral therapy for hepatitis B virus during second pregnancies., Wakano Y, Sugiura T, Endo T, Ito K, Suzuki M, Tajiri H, Tanaka Y, Saitoh S, The journal of obstetrics and gynaecology research,   2018年03月, 査読有り
  • A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever., Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S, Brain & development,   2018年03月, 査読有り
  • Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan., Togawa T, Mizuochi T, Sugiura T, Kusano H, Tanikawa K, Sasaki T, Ichinose F, Kagimoto S, Tainaka T, Uchida H, Saitoh S, The Journal of pediatrics,   2018年02月, 査読有り
  • A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia., Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S, Brain & development,   2018年02月, 査読有り
  • Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury., Jinnou H, Sawada M, Kawase K, Kaneko N, Herranz-Pérez V, Miyamoto T, Kawaue T, Miyata T, Tabata Y, Akaike T, García-Verdugo JM, Ajioka I, Saitoh S, Sawamoto K, Cell stem cell,   2018年01月, 査読有り
  • Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder., Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Matsumoto N, Cell reports,   2018年01月, 査読有り
  • Predominant area of brain lesions in neonates with herpes simplex encephalitis., Kidokoro H, de Vries LS, Ogawa C, Ito Y, Ohno A, Groenendaal F, Saitoh S, Okumura A, Ito Y, Natsume J, Journal of perinatology : official journal of the California Perinatal Association,   2017年11月, 査読有り
  • A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology., Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D, American journal of medical genetics. Part A,   2017年10月, 査読有り
  • Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1., Okazaki T, Saito Y, Hiraiwa R, Saitoh S, Kai M, Adachi K, Nishimura Y, Nanba E, Maegaki Y, Epileptic disorders : international epilepsy journal with videotape,   2017年09月, 査読有り
  • Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum., Brain & development,   2017年09月, 査読有り
  • Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism., Journal of pediatric endocrinology & metabolism : JPEM,   2017年09月, 査読有り
  • CTCF deletion syndrome: clinical features and epigenetic delineation., Journal of medical genetics,   2017年08月, 査読有り
  • Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome., Acta paediatrica (Oslo, Norway : 1992),   2017年07月, 査読有り
  • Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement., Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Saitoh S, Scientific reports, vol. 7, no. 1, pp. 3552, 7, (1) ,   2017年06月, 査読有り, Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Saitoh S, Scientific reports, 2017, vol. 7, no. 1, pp. 3552, 2017
  • Novel MCA/ID syndrome with ASH1L mutation., Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, American journal of medical genetics. Part A, vol. 173, no. 6, pp. 1644-1648, 173, (6) 1644 - 1648,   2017年06月, 査読有り, Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, American journal of medical genetics. Part A, 2017, vol. 173, no. 6, pp. 1644-1648, 2017
  • Siblings with optic neuropathy and RTN4IP1 mutation., Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Journal of human genetics,   2017年06月, 査読有り, Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Journal of human genetics, 2017, 2017
  • Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients., Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T, Genetics in medicine : official journal of the American College of Medical Genetics,   2017年06月, 査読有り, Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T, Genetics in medicine : official journal of the American College of Medical Genetics, 2017, 2017
  • A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate., Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Journal of human genetics,   2017年05月, 査読有り, Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Journal of human genetics, 2017, 2017
  • Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening., Nakano M, Uemura O, Honda M, Ito T, Nakajima Y, Saitoh S, Pediatric research,   2017年05月, 査読有り, Nakano M, Uemura O, Honda M, Ito T, Nakajima Y, Saitoh S, Pediatric research, 2017, 2017
  • Probability curves for predicting symptom severity during an oral food challenge with wheat., Kamioka N, Nomura T, Kato T, Yoneyama M, Sobajima T, Tanida H, Morishita T, Sugiura S, Suda Y, Hirabayashi Y, Misawa C, Tanaka H, Mizuno M, Terada A, Kanda Y, Saitoh S, Allergology international : official journal of the Japanese Society of Allergology,   2017年03月, 査読有り, Kamioka N, Nomura T, Kato T, Yoneyama M, Sobajima T, Tanida H, Morishita T, Sugiura S, Suda Y, Hirabayashi Y, Misawa C, Tanaka H, Mizuno M, Terada A, Kanda Y, Saitoh S, Allergology international : official journal of the Japanese Society of Allergology, 2017, 2017
  • A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly, Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S., BMC Medical Genetics, 18, (1) ,   2017年, 査読有り
  • Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability, Hamada N, Negishi Y, Mizuno M, Miya F, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Tabata H, Saitoh S, Nagata K.-I., Journal of Neurochemistry, 140, (1) 82 - 95,   2017年, 査読有り
  • Effect of Japanese cedar-specific sublingual immunotherapy on allergen-specific TH2 cell counts in blood, Nomura T, Suzuki M, Yokota M, Nakamura Y, Ozeki K, Ito Y, Tsuge I, Saitoh S., Annals of Allergy, Asthma and Immunology,   2016年, 査読有り
  • Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis, Ito S, Hayashi H, Sugiura T, Ito K, Ueda H, Togawa T, Endo T, Tanikawa K, Kage M, Kusuhara H, Saitoh S., Pediatrics International,   2016年, 査読有り
  • Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay, Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong W.P, Shiraishi H, Yuasa S, Matsumoto H, Beng K.T, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N., Scientific Reports, 6,   2016年, 査読有り
  • Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing, Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Ohashi K, Negishi Y, Kudo T, Ito R, Kikuchi A, Arai-Ichinoi N, Kure S, Saitoh S., Journal of Pediatrics, 171, 171 - 177e4,   2016年, 査読有り
  • Molecular genetic analysis of 30 families with Joubert syndrome, Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N., Clinical Genetics, 90, (6) 526 - 535,   2016年, 査読有り
  • Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy, Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H., European Journal of Human Genetics, 24, (12) 1702 - 1706,   2016年, 査読有り
  • Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome, Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S., American Journal of Medical Genetics, Part A, 170, (7) 1863 - 1867,   2016年, 査読有り
  • SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements, Uehara D.T, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J., Journal of Human Genetics, 61, (4) 335 - 343,   2016年, 査読有り
  • Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants, Kawase K, Sugiura T, Nagaya Y, Yamada T, Sugimoto M, Ito K, Togawa T, Nagasaki R, Kato T, Kouwaki M, Koyama N, Saitoh S., Pediatrics International,   2016年, 査読有り
  • Survival of fetuses with severe oligohydramnios, Goto T, Sugiura T, Awaya R, Ueda H, Mizutani E, Ito K, Nagasaki R, Kato T, Saitoh S., Clinical and Experimental Obstetrics and Gynecology, 43, (3) 341 - 344,   2016年, 査読有り
  • Concordance of classifications using DSM-5 and DSM-IV-TR criteria for autism spectrum disorder., Ohashi Kei, Mizuno Yoshifumi, Miyachi Taishi, Asai Tomoko, Imaeda Masayuki, Saitoh Shinji, Pediatrics international : official journal of the Japan Pediatric Society,   2015年
  • A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations., Miya Fuyuki, Kato Mitsuhiro, Shiohama Tadashi, Okamoto Nobuhiko, Saitoh Shinji, Yamasaki Mami, Shigemizu Daichi, Abe Tetsuo, Morizono Takashi, Boroevich Keith A, Kosaki Kenjiro, Kanemura Yonehiro, Tsunoda Tatsuhiko, Scientific reports, 5,   2015年, 査読有り
  • Macitentan reverses early obstructive pulmonary vasculopathy in rats: early intervention in overcoming the survivin-mediated resistance to apoptosis., Shinohara Tsutomu, Sawada Hirofumi, Otsuki Shoichiro, Yodoya Noriko, Kato Taichi, Ohashi Hiroyuki, Zhang Erquan, Saitoh Shinji, Shimpo Hideto, Maruyama Kazuo, Komada Yoshihiro, Mitani Yoshihide, American journal of physiology. Lung cellular and molecular physiology, 308, (6) L523 - 38,   2015年, 査読有り
  • Good death for children with cancer: a qualitative study., Ito Yoshinori, Okuyama Toru, Ito Yasuhiko, Kamei Michi, Nakaguchi Tomohiro, Sugano Koji, Kubota Yosuke, Sakamoto Nobuhiro, Saitoh Shinji, Akechi Tatsuo, Japanese journal of clinical oncology, 45, (4) 349 - 55,   2015年, 査読有り
  • Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndrome., Hori Ikumi, Nakaseko Haruna, Kamei Michi, Nomura Takayasu, Iwata Naomi, Ito Yasuhiko, Saitoh Shinji, Pediatrics international : official journal of the Japan Pediatric Society, 57, (2) e45 - 7,   2015年, 査読有り
  • Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother., Takeshita Satoru, Higuchi Machiko, Suyama Megumi, Koide Wakato, Maki Kanemasa, Ushijima Katsumi, Ban Kyoko, Saito Mariko, Kato Mitsuhiro, Saitoh Shinji, Pediatrics international : official journal of the Japan Pediatric Society, 57, (2) 321 - 3,   2015年, 査読有り
  • Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM., Nakamura Kazuyuki, Inui Takehiko, Miya Fuyuki, Kanemura Yonehiro, Okamoto Nobuhiko, Saitoh Shinji, Yamasaki Mami, Tsunoda Tatsuhiko, Kosaki Kenjiro, Tanaka Soichiro, Kato Mitsuhiro, Pediatric neurology, 52, (5) e7 - 8,   2015年, 査読有り
  • Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion., Ito Yuji, Natsume Jun, Kidokoro Hiroyuki, Ishihara Naoko, Azuma Yoshiteru, Tsuji Takeshi, Okumura Akihisa, Kubota Tetsuo, Ando Naoki, Saitoh Shinji, Miura Kiyokuni, Negoro Tamiko, Watanabe Kazuyoshi, Kojima Seiji, Epilepsia, 56, (8) 1286 - 1293,   2015年, 査読有り
  • Advantageous information provided by magnetoencephalography for patients with neocortical epilepsy, Ito T, Otsubo H, Shiraishi H, Yagyu K, Takahashi Y, Ueda Y, Takeuchi F, Takahashi K, Nakane S, Kohsaka S, Saitoh S., Brain and Development, 37, (2) 237 - 242,   2015年, 査読有り
  • Clinical and neuroimaging findings in children with posterior reversible encephalopathy syndrome, Yamamoto H, Natsume J, Kidokoro H, Ishihara N, Suzuki M, Tsuji T, Kubota T, Yamada A, Ozeki M, Kato Z, Kawamura Y, Yoshikawa T, Okumura A, Ando N, Saitoh S, Takahashi Y, Watanabe K, Kojima S., European Journal of Paediatric Neurology, 19, (6) 672 - 678,   2015年, 査読有り
  • Concordance of DSM-5 and DSM-IV-TR classifications for autism spectrum disorder, Ohashi K, Mizuno Y, Miyachi T, Asai T, Imaeda M, Saitoh S., Pediatrics International, 57, (6) 1097 - 1100,   2015年, 査読有り
  • Effects of tolvaptan on congestive heart failure complicated with chylothorax in a neonate, Sato N, Sugiura T, Nagasaki R, Suzuki K, Ito K, Kato T, Inukai S, Saitoh S., Pediatrics International, 57, (5) 1020 - 1022,   2015年, 査読有り
  • Enhancement of neuroblast migration into the injured cerebral cortex using laminin-containing porous sponge, Ajioka I, Jinnou H, Okada K, Sawada M, Saitoh S, Sawamoto K., Tissue Engineering - Part A, 21, (1-2) 193 - 201,   2015年, 査読有り
  • Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations, Goto M, Saito Y, Honda R, Saito T, Sugai K, Matsuda Y, Miyatake C, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Uto C, Kikuchi K, Motoki T, Saitoh S., Brain and Development, 37, (2) 216 - 222,   2015年, 査読有り
  • Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation, Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H., Clinical Genetics, 87, (5) 455 - 460,   2015年, 査読有り
  • Perinatal management of neonatal alloimmune thrombocytopenia associated with anti-group A antibody, Ueda H, Sugiura T, Katano K, Matsuhashi M, Kato S, Ito K, Nagasaki R, Kato T, Tsuno N.H, Saitoh S., Transfusion Medicine, 25, (1) 42 - 46,   2015年, 査読有り
  • Pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency: Difficulty in detecting glycerol-3-phosphate with solvent extraction in urinary GC/MS analysis, Kato S, Nakajima Y, Awaya R, Hata I, Shigematsu Y, Saitoh S, Ito T., Tohoku Journal of Experimental Medicine, 237, (3) 235 - 239,   2015年, 査読有り
  • Probability curves for predicting symptom severity during oral food challenge with milk, Yoneyama M, Nomura T, Kato T, Sobajima T, Tanida H, Morishita T, Sugiura S, Suda Y, Hirabayashi Y, Misawa C, Kamioka N, Tanaka H, Mizuno M, Terada A, Kanda Y, Saitoh S., Annals of Allergy, Asthma and Immunology, 115, (3) 251 - 253,   2015年, 査読有り
  • TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis, Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J., Scientific Reports, 5,   2015年, 査読有り
  • Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders, Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K., Clinical Genetics, 88, (3) 288 - 292,   2015年, 査読有り
  • Treatment Strategy for Pediatric Paratesticular Rhabdomyosarcoma Based on Chimeric Gene Assessment, Unno R, Mizuno K, Ito Y, Etani T, Okada A, Kawai N, Yasui T, Saitoh S, Hayashi Y., Urology,   2015年, 査読有り
  • Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions, Ando N, Okumura A, Kobayashi S, Negishi Y, Hattori A, Okanishi T, Abe S, Ikeno M, Igarashi A, Saitoh S, Shimizu T., Neuropediatrics, 45, (4) 256 - 260,   2014年, 査読有り
  • Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome, Negishi Y, Hattori A, Takeshita E, Sakai C, Ando N, Ito T, Goto Y.-I, Saitoh S., Journal of Human Genetics, 59, (7) 405 - 407,   2014年, 査読有り
  • Inflammatory cytokine tumor necrosis factor α suppresses neuroprotective endogenous erythropoietin from astrocytes mediated by hypoxia-inducible factor-2α, Nagaya Y, Aoyama M, Tamura T, Kakita H, Kato S, Hida H, Saitoh S, Asai K., European Journal of Neuroscience, 40, (11) 3620 - 3626,   2014年, 査読有り
  • KIF1A mutation in a patient with progressive neurodegeneration, Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K., Journal of Human Genetics, 59, (11) 639 - 641,   2014年, 査読有り
  • Magnetoencephalography localizing spike sources of atypical benign partial epilepsy., Shiraishi Hideaki, Haginoya Kazuhiro, Nakagawa Eiji, Saitoh Shinji, Kaneko Yutaka, Nakasato Nobukazu, Chan Derrick, Otsubo Hiroshi, Brain&development, 36, (1) 21 - 7,   2014年, 査読有り
  • Probability curves focusing on symptom severity during an oral food challenge, Nomura T, Kanda Y, Kato T, Sobajima T, Morishita T, Sugiura S, Suda Y, Wakatsuki J, Nakano M, Kamioka N, Terada A, Saitoh S., Annals of Allergy, Asthma and Immunology, 112, (6) ,   2014年, 査読有り
  • Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusion, Kurahashi N, Tsuji T, Kato T, Ogaya S, Umemura A, Yamada K, Kurahashi H, Maruyama K, Takeuchi T, Kubota T, Saitoh S, Natsume J, Okumura A., Pediatric Neurology, 51, (5) 701 - 705,   2014年, 査読有り
  • Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly., Yoneda Yuriko, Haginoya Kazuhiro, Kato Mitsuhiro, Osaka Hitoshi, Yokochi Kenji, Arai Hiroshi, Kakita Akiyoshi, Yamamoto Takamichi, Otsuki Yoshiro, Shimizu Shin-Ichi, Wada Takahito, Koyama Norihisa, Mino Yoichi, Kondo Noriko, Takahashi Satoru, Hirabayashi Shinichi, Takanashi Jun-Ichi, Okumura Akihisa, Kumagai Toshiyuki, Hirai Satori, Nabetani Makoto, Saitoh Shinji, Hattori Ayako, Yamasaki Mami, Kumakura Akira, Sugo Yoshinobu, Nishiyama Kiyomi, Miyatake Satoko, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Matsumoto Naomichi, Saitsu Hirotomo, Annals of neurology, 73, (1) 48 - 57,   2013年, 査読有り
  • Diclofenac enhances proinflammatory cytokine-induced phagocytosis of cultured microglia via nitric oxide production., Kakita Hiroki, Aoyama Mineyoshi, Nagaya Yoshiaki, Asai Hayato, Hussein Mohamed Hamed, Suzuki Mieko, Kato Shin, Saitoh Shinji, Asai Kiyofumi, Toxicology and applied pharmacology, 268, (2) 99 - 105,   2013年, 査読有り
  • Diclofenac enhances proinflammatory cytokine-induced aquaporin-4 expression in cultured astrocyte., Asai Hayato, Kakita Hiroki, Aoyama Mineyoshi, Nagaya Yoshiaki, Saitoh Shinji, Asai Kiyofumi, Cellular and molecular neurobiology, 33, (3) 393 - 400,   2013年, 査読有り
  • Food sensitization in Japanese infants is associated with a common Filaggrin variant., Nomura Takayasu, Tsuge Ikuya, Inuo Chisato, Nakajima Yoichi, Kondo Yasuto, Sugiura Shiro, Murata Hiroaki, Iguchi Toshifumi, Terada Akihiko, Saitoh Shinji, Hashimoto Shuji, Urisu Atsuo, Annals of allergy, asthma&immunology : official publication of the American College of Allergy, Asthma,&Immunology, 110, (5) 388 - 390.e1,   2013年, 査読有り
  • Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation., Ueda Hiroko, Sugiura Tokio, Takeshita Satoru, Ito Koichi, Kakita Hiroki, Nagasaki Rika, Kurosawa Kenji, Saitoh Shinji, European journal of pediatrics, 1 - 4,   2013年, 査読有り
  • Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome., Hamajima Naoki, Johmura Yoshikazu, Suzuki Satoshi, Nakanishi Makoto, Saitoh Shinji, PloS one, 8, (9) ,   2013年, 査読有り
  • Effect of Japanese cedar specific immunotherapy on allergen-specific T H2 cells in peripheral blood, Nomura T, Tsuge I, Inuo C, Nakajima Y, Tanaka K, Naruse N, Suzuki S, Ando H, Kondo Y, Saitoh S, Urisu A., Annals of Allergy, Asthma and Immunology, 110, (5) 380 - 385,   2013年, 査読有り
  • From pathogenesis to treatment of genetic intellectual disabilities: A lesson from Angelman syndrome research, Saitoh S., Japanese Journal of Neuropsychopharmacology, 33, (3) 127 - 130,   2013年, 査読有り
  • Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome., Suzumori Nobuhiro, Kaname Tadashi, Muramatsu Yukako, Yanagi Kumiko, Kumagai Kyoko, Mizuno Seiji, Naritomi Kenji, Saitoh Shinji, Sugiura-Ogasawara Mayumi, The journal of obstetrics and gynaecology research, 39, (11) 1545 - 7,   2013年, 査読有り
  • Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasms, Sueda Keitaro, Takeuchi Fumiya, Shiraishi Hideaki, Nakane Shingo, Sakurai Kotaro, Yagyu Kazuyori, Asahina Naoko, Kohsaka Shinobu, Saitoh Shinji, Epilepsy Research, 104, (1-2) 68 - 77,   2013年, 査読有り
  • Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation., Honda Shozo, Satomura Shigeko, Hayashi Shin, Imoto Issei, Nakagawa Eiji, Goto Yu-ichi, Inazawa Johji,, Journal of human genetics, 57, (1) 73 - 7,   2012年
  • Acute encephalopathy in children with Dravet syndrome., Okumura Akihisa, Uematsu Mitsugu, Imataka George, Tanaka Manabu, Okanishi Tohru, Kubota Tetsuo,Sudo Akira, Tohyama Jun, Tsuji Megumi, Ohmori Iori, Naiki Misako,Hiraiwa-Sofue Ayako, Sato Hitoshi, Saitoh Shinji, Shimizu Toshiaki, Epilepsia, 53, (1) 79 - 86,   2012年, 査読有り
  • SuccessfulAlternative Treatment Containing Vindesine for Acute Lymphoblastic Leukemia With Charcot-Marie-Tooth Disease., Ichikawa Mizuho, Suzuki Daisuke, Inamoto Jun, Ohshima Junjiro, Cho Yuko, Saitoh Shinji, Kaneda Makoto, Iguchi Akihiro, Ariga Tadashi, Journal of pediatric hematology/oncology, 34, (3) 239 - 241,   2012年, 査読有り
  • Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome., Takenouchi Toshiki, Yagihashi Tatsuhiko, Tsuchiya Hiroyuki, Torii Chiharu, Hayashi Kumiko, Kosaki Rika, Saitoh Shinji, Takahashi Takao, Kosaki Kenjiro, American journal of medical genetics. Part A, 158A, (10) 2621 - 3,   2012年, 査読有り
  • Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course., TakahashiYumi, Sugiyama Minako, Ueda Yuki, Itoh Tomoshiro, Yagyu Kazuyori, Shiraishi Hideaki, Ukeba-Terashita Yukayo, Nakanishi Masanori, Nagashima Tetsuro, Imai Tomihiro, Motomura Masakatsu, Saitoh Shinji, Brain&Development, 34, (9) 784 - 786,   2012年, 査読有り
  • Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization., Kawamura Rie, Tanabe Hideyuki, Wada Takahito, Saitoh Shinji, Fukushima Yoshimitsu, Wakui Keiko, Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 20, (6) 659 - 72,   2012年, 査読有り
  • Growth factors released from gelatin hydrogel microspheres increase new neurons in the adult mouse brain., Nakaguchi Kanako, Jinnou Hideo, Kaneko Naoko, Sawada Masato, Hikita Takao, Saitoh Shinji, Tabata Yasuhiko, Sawamoto Kazunobu, Stem cells international, 2012,   2012年, 査読有り
  • Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome., Hosoki Kana, Ohta Tohru, Fujita Keinosuke, Nishigaki Satsuki, Shiomi Masashi, Niikawa Norio, Saitoh Shinji, Pediatrics international : official journal of the Japan Pediatric Society, 54, (3) e22 - 5,   2012年, 査読有り
  • Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome., Hosoki Kana, Ohta Tohru, Natsume Jun, Imai Sumiko, Okumura Akihisa, Matsui Takeshi, Harada Naoki, Bacino Carlos A, Scaglia Fernando, Jones Jeremy Y, Niikawa Norio, Saitoh Shinji, American journal of medical genetics. Part A, 158A, (8) 1891 - 6,   2012年, 査読有り
  • A DYNC1H1mutation causes a dominant spinal muscular atrophy with lower extremity predominance., Tsurusaki Yoshinori, Saitoh Shinji, Tomizawa Kazuhiro, Sudo Akira, Asahina Naoko, ShiraishiHideaki, Ito Jun-Ichi, Tanaka Hajime, Doi Hiroshi, Saitsu Hirotomo, Miyake Noriko, Matsumoto Naomichi, Neurogenetics, 13, (4) 327 - 32,   2012年, 査読有り
  • Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model ofAngelman syndrome., Egawa Kiyoshi, Kitagawa Kyoko, Inoue Koichi, Takayama Masakazu, Takayama Chitoshi, Saitoh Shinji, Kishino Tatsuya, Kitagawa Masatoshi, Fukuda Atsuo, Science translational medicine, 4, (163) ,   2012年, 査読有り
  • Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL, Sakai S, Maki M, Sakai N, Sudoh A, Kato M, Saitoh S., No To Hattatsu, 44, (6) 465 - 471,   2012年, 査読有り
  • Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies., Hayashi Shin, Imoto Issei, Aizu Yoshinori, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Okamoto Nana, Honda Shozo, Araki Satoshi, Mizutani Shuki, Numabe Hironao, Saitoh Shinji, Kosho Tomoki, Fukushima Yoshimitsu, Mitsubuchi Hiroshi, Endo Fumio, Chinen Yasutsugu, Kosaki Rika, Okuyama Torayuki, Ohki Hirotaka, Yoshihashi Hiroshi, Ono Masae, Takada Fumio, Ono Hiroaki, Yagi Mariko, Matsumoto Hiroshi, Makita Yoshio, Hata Akira, Inazawa Johji, Journal of human genetics, 56, (2) 110 - 24,   2011年, 査読有り
  • Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism., Sato Kazunori, Yabe Ichiro, Yaguchi Hiroaki, Nakano Fumihito, Kunieda Yasuyuki, Saitoh Shinji, Sasaki Hidenao, Journal of neurology, 258, (7) 1327 - 32,   2011年, 査読有り
  • Adult Leigh disease without failure to thrive., Sakushima Ken, Tsuji-Akimoto Sachiko, Niino Masaaki, Saitoh Shinji, Yabe Ichiro, Sasaki Hidenao, The neurologist, 17, (4) 222 - 7,   2011年, 査読有り
  • Inflammatory changes in infantile-onset LMNA-associated myopathy., Komaki Hirofumi, Hayashi Yukiko K, Tsuburaya Rie, Sugie Kazuma, Kato Mitsuhiro, Nagai Toshiro, Imataka George, Suzuki Shuhei, Saitoh Shinji, Asahina Naoko, Honke Kazuya, Higuchi Yoshihisa, Sakuma Hiroshi, Saito Yoshiaki, Nakagawa Eiji, Sugai Kenji, Sasaki Masayuki, Nonaka Ikuya, Nishino Ichizo, Neuromuscular disorders : NMD, 21, (8) 563 - 8,   2011年, 査読有り
  • A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome., Takahashi Yumi, Hosoki Kana, Matsushita Masafumi, Funatsuka Makoto, Saito Kayoko, Kanazawa Hiroshi, Goto Yu-Ichi, Saitoh Shinji, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 156B, (7) 799 - 807,   2011年, 査読有り
  • Comparison of three methods for localizing interictal epileptiform discharges with magnetoencephalography., Shiraishi Hideaki, Ahlfors Seppo P, Stufflebeam Steven M, Knake Susanne, Larsson Pal G, Hamalainen Matti S, Takano Kyoko, Okajima Maki, Hatanaka Keisaku, Saitoh Shinji, Dale Anders M, Halgren Eric, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society, 28, (5) 431 - 40,   2011年, 査読有り
  • Direct correlation between the facial nerve nucleus and hemifacial seizures associated with a gangliocytoma of the floor ofthe fourth ventricle: a case report., Yagyu Kazuyori, Sueda Keitaro, Shiraishi Hideaki, Asahina Naoko, Sakurai Kotaro, Kohsaka Shinobu, Sawamura Yutaka, Saitoh Shinji, Epilepsia, 52, (12) e204 - 6,   2011年, 査読有り
  • West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14., Tohyama Jun, Yamamoto Toshiyuki, HosokiKana, Nagasaki Keisuke, Akasaka Noriyuki, Ohashi Tsukasa, Kobayashi Yu, Saitoh Shinji, American journal of medical genetics. Part A, 155A, (10) 2584 - 8,   2011年, 査読有り
  • Early-onset absence epilepsy at eight months of age., Kobayashi Yu, Akasaka Noriyuki, Ohashi Tsukasa, Saitoh Shinji, Tomonoh Yuko, Hirose Shinichi, Tohyama Jun, Epileptic disorders : international epilepsy journal with videotape, 13, (4) 417 - 21,   2011年, 査読有り
  • GABAergic dysfunction in Ube3a deficient mice, models of Angelman syndrome, Egawa Kiyoshi, Inoue Koichi, Saitoh Shinji, Kishino Tatsuya, Fukuda Atsuo, Neuroscience Research, 71,   2011年, 査読有り
  • Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition, Sudo A, Takeichi N, Hosoki K, Saitoh S., Journal of Laryngology and Otology, 125, (12) 1282 - 1285,   2011年, 査読有り
  • Care continuity for patients with Prader-Willi syndrome during transition from childhood to adulthood, Saitoh S., Nippon rinsho. Japanese journal of clinical medicine, 68, (1) 141 - 144,   2010年, 査読有り
  • Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay, Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S.-i, Ogata K, Kato M, Fukuda A, Matsumoto N., American Journal of Human Genetics, 86, (6) 881 - 891,   2010年, 査読有り
  • MEG time-frequency analyses for pre- and post-surgical evaluation of patients with epileptic rhythmic fast activity., Sueda Keitaro, Takeuchi Fumiya, Shiraishi Hideaki, Nakane Shingo, Asahina Naoko, Kohsaka Shinobu, Nakama Hideyuki, Otsuki Taisuke, Sawamura Yutaka, Saitoh Shinji, Epilepsy research, 88, (2-3) 100 - 7,   2010年, 査読有り
  • MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes, Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H., Journal of Medical Genetics, 47, (10) 659 - 664,   2010年, 査読有り
  • Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype, Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T., Journal of Medical Genetics, 47, (11) 782 - 785,   2010年, 査読有り
  • The applications of time-frequencyanalysesto ictal magnetoencephalography in neocortical epilepsy., Yagyu Kazuyori, Takeuchi Fumiya, Shiraishi Hideaki, Nakane Shingo, Sueda Keitaro, Asahina Naoko, Kohsaka Shinobu, Umeoka Shuichi, Usui Naotaka, Baba Koichi, Saitoh Shinji, Epilepsy research, 90, (3) 199 - 206,   2010年, 査読有り
  • Vaccine-associated paralytic poliomyelitis in a non-immunocompromised infant., Asahina Naoko, Matsunami Yukiko, Sueda Keitaro, Shiraishi Hideaki, Saitoh Shinji, Pediatrics international : official journal of the Japan Pediatric Society, 52, (5) 838 - 41,   2010年, 査読有り
  • A de novo direct duplication of 16q22.1→q23.1 in a boy with midface hypoplasia and mental retardation, Tokutomi T, Wada T, Nakagawa E, Saitoh S, Sasaki M., American Journal of Medical Genetics, Part A, 149, (11) 2560 - 2563,   2009年, 査読有り
  • Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy., Gueneau Lucie, Bertrand Anne T, Jais Jean-Philippe, Salih Mustafa A, Stojkovic Tanya, Wehnert Manfred, Hoeltzenbein Maria, Spuler Simone, Saitoh Shinji, Verschueren Annie, Tranchant Christine, Beuvin Maud, Lacene Emmanuelle, Romero Norma B, Heath Simon, Zelenika Diana, VoitThomas, Eymard Bruno, Ben Yaou Rabah, Bonne Gisele, American journal of human genetics, 85, (3) 338 - 53,   2009年, 査読有り
  • Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype., Hosoki Kana, Kagami Masayo, Tanaka Touju, Kubota Masaya, Kurosawa Kenji, Kato Mitsuhiro, Uetake Kimiaki, Tohyama Jun, Ogata Tsutomu, Saitoh Shinji, The Journal of pediatrics, 155, (6) 900 - 903.e1,   2009年, 査読有り
  • Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome., Egawa Kiyoshi, Asahina Naoko, Shiraishi Hideaki, Kamada Kyousuke, Takeuchi Fumiya, Nakane Shingo, Sudo Akira, Kohsaka Shinobu, Saitoh Shinji, NeuroImage, 39, (2) 593 - 9,   2008年, 査読有り
  • [(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome., Asahina Naoko, Shiga Tohru,Egawa Kiyoshi, Shiraishi Hideaki, Kohsaka Shinobu, Saitoh Shinji, The Journal of pediatrics, 152, (4) 546 - 9, 549.e1-3,   2008年, 査読有り
  • Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype., Hosoki Kana, Ogata Tsutomu, Kagami Masayo, Tanaka Touju, Saitoh Shinji, European journal of human genetics : EJHG, 16, (8) 1019 - 23,   2008年, 査読有り
  • Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family., Yabe Ichiro, Kitagawa Mayumi, Suzuki Yashio, Fujiwara Keishi, Wada Takahito, Tsubuku Takashi, Takeichi Norihito, Sakushima Ken, Soma Hiroyuki, Tsuji Sachiko, Niino Masaaki, Saitoh Shinji, Sasaki Hidenao, Journal of neurology, 255, (10) 1541 - 4,   2008年, 査読有り
  • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome), Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K., American Journal of Human Genetics, 81, (2) 361 - 366,   2007年, 査読有り
  • Angelman syndrome caused by an identical familial 1,487-kb deletion [6], Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N., American Journal of Medical Genetics, Part A, 143, (1) 98 - 101,   2007年, 査読有り
  • DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader-Willi syndrome and a mouse model [5], Takano K, Okajima M, Saitoh S., American Journal of Medical Genetics, Part A, 143, (12) 1386 - 1390,   2007年, 査読有り
  • Long-term sequential magnetoencephalographic analyses for patients with atypical benign partial epilepsy in childhood, Shiraishi H, Egawa K, Asahina N, Nakane S, Udo Y, Satake A, Kohsaka S, Saitoh S., International Congress Series, 1300, 689 - 692,   2007年, 査読有り
  • Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy [2], Saitoh S, Hosoki K, Takano K, Tonoki H., Clinical Genetics, 72, (4) 378 - 380,   2007年, 査読有り
  • Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome, Shiraishi H, Takano K, Shiga T, Okajima M, Sudo A, Asahina N, Kohsaka S, Fukuhara M, Saitoh S., Brain and Development, 29, (8) 529 - 533,   2007年, 査読有り
  • A new detection method for ATRX gene mutations using a mismatch-specific endonuclease, Wada T, Fukushima Y, Saitoh S., American Journal of Medical Genetics, Part A, 140, (14) 1519 - 1523,   2006年, 査読有り
  • A novel splicing mutation of the ATRX gene in ATR-X syndrome, Wada Takahito, Sakakibara Masae, Fukushima Yoshimitsu, Saitoh Shinji, Brain and Development, 28, (5) 322 - 325,   2006年, 査読有り
  • An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP, Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S., Brain and Development, 28, (2) 131 - 133,   2006年, 査読有り
  • Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy, Ichikawa M, Okajima M, Wada T, Gokan Y, Shimakage H, Tonoki H, Saitoh S., Pediatrics International, 48, (1) 97 - 99,   2006年, 査読有り
  • A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype, Akahoshi K, Ohashi H, Hattori Y, Saitoh S, Fukushima Y, Wada T., American Journal of Medical Genetics, 132 A, (4) 414 - 418,   2005年, 査読有り
  • Application of magnetoencephalography in epilepsy patients with widespread spike or slow-wave activity, Shiraishi H, Ahlfors S.P, Stufflebeam S.M, Takano K, Okajima M, Knake S, Hatanaka K, Kohsaka S, Saitoh S, Dale A.M, Halgren E., Epilepsia, 46, (8) 1264 - 1272,   2005年, 査読有り
  • Bilateral germinoma involving the basal ganglia and cerebral white matter, Oyama N, Terae S, Saitoh S, Sudoh A, Sawamura Y, Miyasaka K., American Journal of Neuroradiology, 26, (5) 1166 - 1169,   2005年, 査読有り
  • Dynamic statistical parametric mapping for analyzing the magnetoencephalographic epileptiform activity in patients with epilepsy, Shiraishi H, Stufflebeam S.M, Knake S, Ahlfors S.P, Sudo A, Asahina N, Egawa K, Hatanaka K, Kohsaka S, Saitoh S, Grant P.E, Dale A.M, Halgren E., Journal of Child Neurology, 20, (4) 363 - 369,   2005年, 査読有り
  • Germline mosaicism of a novel UBE3A mutation in Angelman syndrome [3], Hosoki K, Takano K, Sudo A, Tanaka S, Saitoh S., American Journal of Medical Genetics, 138 A, (2) 187 - 189,   2005年, 査読有り
  • Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X, Wada T, Sugie H, Fukushima Y, Saitoh S., American Journal of Medical Genetics, 138 A, (1) 18 - 20,   2005年, 査読有り
  • Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome, Saitoh Shinji, Wada Takahito, Okajima Maki, Takano Kyoko, Sudo Akira, Niikawa Norio, Brain and Development, 27, (5) 389 - 391,   2005年, 査読有り
  • Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y) [2], Kurosawa K, Harada N, Sosonkina N, Niikawa N, Matsumoto N, Saitoh S., American Journal of Medical Genetics, 130 A, (3) 322 - 324,   2004年, 査読有り
  • A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2), Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, Shimizu H, Ishii M., Journal of Dermatological Science, 31, (3) 189 - 192,   2003年, 査読有り
  • Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I, Takano K, Nakamoto T, Okajima M, Sudo A, Uetake K, Saitoh S., Pediatric Neurology, 28, (2) 142 - 144,   2003年, 査読有り
  • High Uptake on 11C-methionine Positron Emission Tomographic Scan of Basal Ganglia Germinoma with Cerebral Hemiatrophy, Sudo A, Shiga T, Okajima M, Takano K, Terae S, Sawamura Y, Ohnishi A, Nagashima K, Saitoh S., American Journal of Neuroradiology, 24, (9) 1909 - 1911,   2003年, 査読有り
  • Clinicopathological features of genetically confirmed Danon disease, Sugie K, Yamamoto A, Murayama K, Oh S.J, Takahashi M, Mora M, Riggs J.E, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I., Neurology, 58, (12) 1773 - 1778,   2002年, 査読有り
  • Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease), Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y.-I, Nishino I, Saitoh S., Annals of Neurology, 52, (1) 122 - 125,   2002年, 査読有り
  • Wide clinical variability in a family with a CACNA1A T666M mutation: Hemiplegic migraine, coma, and progressive ataxia, Wada T, Kobayashi N, Takahashi Y, Aoki T, Watanabe T, Saitoh S., Pediatric Neurology, 26, (1) 47 - 50,   2002年, 査読有り
  • A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome, Meguro M, Kashiwagi A, Mitsuya K, Nakao M, Kondo I, Saitoh S, Oshimura M., Nature Genetics, 28, (1) 19 - 20,   2001年, 査読有り
  • Molecular genetic study of Japanese patients with X-linked α-thalassemia/mental retardation syndrome (ATR-X), Wada T, Kubota T, Fukushima Y, Saitoh S., American Journal of Medical Genetics, 94, (3) 242 - 248,   2000年, 査読有り
  • Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome, Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K., Journal of Medical Genetics, 37, (5) 392 - 394,   2000年, 査読有り
  • Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome, Saitoh S, Wada T., American Journal of Human Genetics, 66, (6) 1958 - 1962,   2000年, 査読有り
  • A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region, Jong M.T.C, Gray T.A, Ji Y, Glenn C.C, Saitoh S, Driscoll D.J, Nicholls R.D., Human Molecular Genetics, 8, (5) 783 - 793,   1999年, 査読有り
  • An imprinted, mammalian bicistronic transcript encodes two independent proteins, Gray T.A, Saitoh S, Nicholls R.D., Proceedings of the National Academy of Sciences of the United States of America, 96, (10) 5616 - 5621,   1999年, 査読有り
  • Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation [1], Saitoh S, Wada T, Kuno T, Kim K.C, Ohashi H, Hashimoto K, Niikawa N., Clinical Genetics, 55, (4) 277 - 278,   1999年, 査読有り
  • Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome, Ariga T, Yamada M, Wada T, Saitoh S, Sakiyama Y., British Journal of Haematology, 104, (4) 893 - 900,   1999年, 査読有り
  • Fourth International Workshop on Human Chromosome 15 Mapping, Genome Database, Baltimore, MD, October 28 1997, Morton C.C, Christian S.L, Donlon T.A, Driscoll D.J, Fink J.K, Gabriel J.M, Gotway G, Greally J.M, Hitchins M.P, Howard H.C, Ji Y, Leonard S, Lerner T, Magenis E, Malcolm S, Ohta T, Rainier S, Rees M, Riley B, Robinson W.P, Saitoh S, Schultz R, Sell S, Sharp J.D, Talbot C, Trent R, Wevrick R, Nicholls R.D., Cytogenetics and Cell Genetics, 84, (1-2) 12 - 21,   1999年, 査読有り
  • Imprinting-mutation mechanisms in Prader-Willi syndrome, Ohta T, Gray T.A, Rogan P.K, Buiting K, Gabriel J.M, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll D.J, Horsthemke B, Butler M.G, Nicholls R.D., American Journal of Human Genetics, 64, (2) 397 - 413,   1999年, 査読有り
  • Multicenter study of paroxysmal dyskinesias in Japan: Clinical and pedigree analysis, Nagamitsu S, Matsuishi T, Hashimoto K, Yamashita Y, Aihara M, Shimizu K, Mizuguchi M, Iwamoto H, Saitoh S, Hirano Y, Kato H, Fukuyama Y, Shimada M., Movement Disorders, 14, (4) 658 - 663,   1999年, 査読有り
  • Prader-Willi syndrome in a child with XYY, Honma A, Ishii R, Ito A, Kato M, Saitoh S, Hayasaka K., Journal of Human Genetics, 44, (6) 412 - 413,   1999年, 査読有り
  • A model system to study genomic imprinting of human genes, Gabriel J.M, Higgins M.J, Gebuhr T.C, Shows T.B, Saitoh S, Nicholls R.D., Proceedings of the National Academy of Sciences of the United States of America, 95, (25) 14857 - 14862,   1998年, 査読有り
  • Imprinting in Prader-Willi and Angelman syndromes, Nicholls R.D, Saitoh S, Horsthemke B., Trends in Genetics, 14, (5) 194 - 200,   1998年, 査読有り
  • Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome, Tonoki H, Saitoh S, Kobayashi K., American Journal of Medical Genetics, 75, (4) 416 - 418,   1998年, 査読有り
  • Phenotypic variability in a family with a mitochondrial DNA T8993C mutation, Suzuki Y, Wada T, Sakai T, Ishikawa Y, Minami R, Tachi N, Saitoh S., Pediatric Neurology, 19, (4) 283 - 286,   1998年, 査読有り
  • Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation, Saitoh S, Buiting K, Cassidy S.B, Conroy J.M, Driscoll D.J, Gabriel J.M, Gillessen-Kaesbach G, Glenn C.C, Greenswag L.R, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan P.K, Schwartz S, Seip J, Williams C.A, Nicholls R.D., American Journal of Medical Genetics, 68, (2) 195 - 206,   1997年, 査読有り
  • Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient, Sun Y, Nicholls R.D, Butler M.G, Saitoh S, Hainline B.E, Palmer C.G., Human Molecular Genetics, 5, (4) 517 - 524,   1996年, 査読有り
  • Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene, Glenn C.C, Saitoh S, Jong M.T.C, Filbrandt M.M, Surti U, Driscoll D.J, Nicholls R.D., American Journal of Human Genetics, 58, (2) 335 - 346,   1996年, 査読有り
  • Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene, Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls R.D, Poustka A, Winterpacht A, Zabel B, Horsthemke B., Nature Genetics, 14, (2) 163 - 170,   1996年, 査読有り
  • Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations, Saitoh S, Buiting K, Rogan P.K, Buxton J.L, Driscoll D.J, Arnemann J, K{\"o}nig R, Malcolm S, Horsthemke B, Nicholls R.D., Proceedings of the National Academy of Sciences of the United States of America, 93, (15) 7811 - 7815,   1996年, 査読有り
  • Multiple imprinted genes associated with Prader-Willi syndrome and location of an imprinting control element, Nicholls R.D, Jong M.T.C, Glenn C.C, Gabriel J, Rogan P.K, Driscoll D.J, Saitoh S., Acta Geneticae Medicae et Gemellologiae, 45, (1-2) 87 - 89,   1996年, 査読有り
  • Erratum: Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15 (Nature Genetics (1995) 9 (395-400)), Buiting K, Saitoh S, Gross S, Bittrich B, Schwartz S, Nicholls R.D, Horsthemke B., Nature Genetics, 10, (2) ,   1995年, 査読有り
  • Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15, Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls R.D, Horsthemke B., Nature Genetics, 9, (4) 395 - 400,   1995年, 査読有り
  • A common insertion/deletion polymorphism in the prader - willi syndrome minimal critical region, Gabriel J, Gottlieb W, Garcia A, Rogan P.K, Saitoh S, Nicholls R.D., Human Molecular Genetics, 3, (10) ,   1994年, 査読有り
  • Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome, Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N., American Journal of Medical Genetics, 49, (4) 378 - 383,   1994年, 査読有り
  • Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions, Saitoh S, Mutirangura A, Kuwano A, Ledbetter D.H, Niikawa N., American Journal of Medical Genetics, 50, (1) 64 - 67,   1994年, 査読有り
  • Molecular and clinical study of 61 Angelman syndrome patients, Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, Lalande M, Mutirangura A, Kuwano A, Ledbetter D.H, Niikawa N., American Journal of Medical Genetics, 52, (2) 158 - 163,   1994年, 査読有り
  • Modification of 15q11 - q13 DNA methylation imprints in unique angelman and prader - willi patients, Glenn C.C, Nicholls R.D, Robinson W.P, Saitoh S, Nllkawa N, Schlnzel A, Horsthemke B, Driscoll D.J., Human Molecular Genetics, 2, (9) 1377 - 1382,   1993年, 査読有り
  • Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities, Sugimoto T, Yasuhara A, Ohta T, Nishida N, Saitoh S, Hamabe J.-I, Niikawa N., Epilepsia, 33, (6) 1078 - 1082,   1992年, 査読有り
  • Cortical reflex myoclonus associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): A case report, Saitoh S, Kohsaka S, Mizukami S, Kajii N., Brain and Development, 14, (4) 260 - 263,   1992年, 査読有り
  • Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene, Saitoh S, Kubota T, Ohta T, Jinno Y, Niikawa N, Sugimoto T, Wagstaff J, Lalande M., The Lancet, 339, (8789) 366 - 367,   1992年, 査読有り
  • Molecular characterization of a candidate-imprinted gene in Prader-Willi and Angelman syndromes, Nicholls R.D, Waters M.F, Glenn C.C, Jong M.T.C, Avidano K.M, Gottlieb W, Williams C.A, Zori R.T, Robinson W, Schinzel A, Saitoh S, Niikawa N, Driscoll D.J., Dysmorphology and Clinical Genetics, 6, (2) 77 - 78,   1992年, 査読有り
  • Molecular dissection of the prader-willi/angelman syndrome region (15q11-13) by YAC cloning and fish analysis, Kuwano A, Mutirangura A, Dittrich B, Horsthemke B, Saitoh S, Nikawa N, Ledbetter S.A, Greenberg F, Chinault A.C, Ledbetter D.H., Human Molecular Genetics, 1, (6) 417 - 425,   1992年, 査読有り
  • Molecular dissection of the prader-willi/angelman syndrome region (15q11-13) by YAC cloning and fish analysis, Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter S.A, Greenberg F, Chinault A.C, Ledbetter D.H., Human Molecular Genetics, 1, (9) ,   1992年, 査読有り
  • A BsaBL RFLP detected for probe pML34 [D15S9] on chromosome 15q, Hamabe J, Saitoh S, Niikawa N., Nucleic Acids Research, 19, (17) ,   1991年, 査読有り

競争的資金

  • がん遺伝子MYCNの神経発生での役割とその変異により起こる新規症候群の病態の解明, 名古屋市立大学, 科学研究費補助金 挑戦的研究(萌芽),   2018年04月 - 2020年03月, 齋藤 伸治 名古屋市立大学・医学(系)研究科(研究院)・教授 (00281824)
  • mTOR経路の異常により起こる巨脳症の診断法および治療法開発, 名古屋市立大学, 科学研究費補助金 挑戦的萌芽研究,   2016年04月 - 2018年03月, 齋藤 伸治 名古屋市立大学・医学(系)研究科(研究院)・教授 (00281824)
  • Gillespie症候群の原因遺伝子同定と病態解明, 名古屋市立大学, 科学研究費補助金 挑戦的萌芽研究,   2014年04月 - 2016年03月, 齋藤 伸治 名古屋市立大学・医学(系)研究科(研究院)・教授 (00281824)
  • アンジェルマン及びプラダー・ウイリー症候群の中枢神経機能障害の成因に関する研究, 北海道大学, 科学研究費補助金 基盤研究(C),   2009年04月 - 2012年03月, 齋藤 伸治 北海道大学・大学病院・講師 (00281824), 平成21年度はPWSとASとの体系的な遺伝学的解析を更に発展させ、臨床的にPWSやASが疑われたが、遺伝学的に診断に至らなかった例の解析を行った。これまでにPWSやASと似ていると報告された候補遺伝子解析としてPWSについては14番染色体片親性ダイソミー解析、ASについてはSLC9A6遺伝子解析を行った。その結果、6例の14番染色体母性片親性ダイソミーをPWS様表現型のなかに同定し、SLC9A6遺伝子変異を1例AS様表現型のなかに同定した。さらに、網羅的解析としてオリゴアレイ解析を行い、複数の染色体微細欠失・重複症例を同定し、解析中である。これらの結果はPWSやASの表現型に関与する遺伝子や染色体領域を明らかにすることにより、発症機構の解明に寄与すると考えている。中枢神経機能解析としては、新たに脳磁図による周波数解析の手法を確立し、てんかん患者においてその有用性を明らかにした。周波数解析によりこれまで解析できなかった、発作間欠時脳波や発作時脳波の解析が可
  • アンジェルマン症候群の遺伝学的診断法と遺伝カウンセリングの確立, 北海道大学, 科学研究費補助金 基盤研究(C),   2005年04月 - 2007年03月, 齋藤 伸治(SAITOH, Shinji) 北海道大学・大学病院・講師 (00281824), アンジェルマン症候群(AS)を対象として体系的遺伝学的診断法の開発を行なった。DNAメチル化テスト、多型解析、UBE3A変異解析、リアルタイムPCRを用いた微細欠失解析の組み合わせで、すべての遺伝学的群の診断が可能となり、体系的遺伝学的解析法を確立することができた。この体系的遺伝学的診断法を用いてAS非欠失例85例の解析を行うことができた。内訳は、片親性ダイソミー(UPD)7例、刷り込み変異7例、UBE3A遺伝子変異23例であり、44例には異常が検出できなかった。メチル化テスト陽性例のなかで、4名は両親の検体が入手できず、UPDと刷り込み変異との区別ができなかった。従って、非欠失例の67%の原因を同定することができた。UBE3A変異はエクソン8からエクソン16に広く分布した。そのなかで、エクソン16の3089-3095領域に5家系の変異が集中し、変異の好発部位であった。弧発例で母親の解析が8例に可能であった。そのなかで、2例の母が保因者であり、6例はde novoの変異であった。UBE3A
  • X連鎖精神遅滞・αサラセミア症候群(ATR-X)の分子遺伝学的解析, 北海道大学, 科学研究費補助金 基盤研究(C),   2002年04月 - 2004年03月, 斉藤 伸治(SAITOH, Shinji) 北海道大学・医学部・歯学部附属病院・助手 (00281824), 症候性XMRの一つである、X連鎖精神遅滞・αサラセミア症候群(ATR-X)の日本人症例の集積を行い、24家系27例の症例を解析した。臨床的確診例18家系21例、疑診例6家系6例を対象とした解析の結果、24家系27例中、21家系24例で遺伝子変異を同定した。主要な2つの領域ADDドメインに12家系14例、helicaseドメインに3家系4例でミスセンス変異を同定した。また、一塩基置換によるスプライシング変異3家系3例、一塩基挿入によるフレームシフト、偽遺伝子の挿入によるスプライシング変異を各1例同定した。現時点で、確診例2家系2例、疑診例1家系1例では変異は同定されていな。遺伝子型とHbHの有無には相関はなく、その他の表現型は変異の種類による違いはなかった。HbHの有無に関わらず、高率にATRXの変異が同定されたことはATR-Xの臨床診断においてHbHは必須ではなく、特徴的な臨床症状から行われるべきであることを明らかにした。ATRXはX連鎖精神遅滞のひとつであり、女性保因者の存在は遺伝カウン
  • Prader-Willi症候群における刷り込み遺伝子再活性化の研究, 北海道大学, 科学研究費補助金 基盤研究(C),   2000年04月 - 2002年03月, 斉藤 伸治(SAITOH, Shinji) 北海道大学・医学部・附属病院・助手 (00281824), Prader-Willi症候群(PWS)責任領域であるヒト15番染色体q11-q13に位置する刷り込み遺伝子の再活性化の可能性を検討するために、PWS患者および対照から樹立したリンパ芽球様細胞株を用いて実験を行った.DNAメチル化阻害剤5-azadeoxycytidine(5-azadC)、ヒストン脱アセチル化阻害剤trichostatin A(TSA)を用いた実験の結果、代表的な刷り込み遺伝子であるSNURF-SNRPNはTSAでは再活性化を受けないが、5-azadCでは再活性化されることを見い出した。薬剤投与前後における、SNURF-SNRRPNが遺伝子の状態を検討したところ、5-azadC投与により、プロモーター領域のDNAメチル化レベルが低下することに加えて、ヒストンアセチル化レベルが増加することを見い出した.このことにより、15q11-q13における刷り込み遺伝子の発現調節において、DNAメチル化とヒストンアセチル化が関連して作用していることを示した。本研究はゲノム刷り込み関連疾患に対する薬物治療の可能性を世界に先駆けて示したものである。さらに、PWSモデルマ
  • ヒト15q11-q13およびマウス相同領域における刷り込み地図の作成に関する研究, 北海道大学, 科学研究費補助金 特定領域研究(C),   2001年04月 - 2002年03月, 斉藤 伸治 北海道大学・医学部・附属病院・助手 (00281824), Prader-Willi症候群(PWS)責任領域であるヒト15番染色体q11-q13およびマウスにおける相同領域7Cにおける刷り込み地図の作成を行うために、刷り込み遺伝子の発現、DNAメチル化、ヒストンアセチル化のマッピングを行った。マウスに関しては、7C領域を欠失しているPWSモデルマウス、ASモデルマウス、および正常対照マウス由来細胞株の供与を受け、実験を行った。結果の概略としては、遺伝子発現、DNAメチル化に関しては、ヒトとマウスとにおいて大きな違いはなく、種を超えてよく保存されていた。しかし、抗アセチル化ヒストンH3およびH4抗体を用いたクロマチン免疫沈降法を行った結果は異なったパターンが得られた。父性発現を示す刷り込み遺伝し群に関しては、ヒトにおいてはSNURF-SNRPNにおいて親由来特異的なヒストンアセチル化を同定したが、他の刷り込み遺伝子ではヒストンアセチル化は低レベルであり、親由来特異的な違いははっきりしなかった。これに対して、マウスではSnurf-Snrp
  • Angelman症候群患者におけるUBE3A遺伝子の変異解析とその応用, 北海道大学, 科学研究費補助金 奨励研究(A),   1998年04月 - 2000年03月, 斉藤 伸治 北海道大学・医学部・附属病院・助手 (00281824), Angelman症候群(AS)の発症機序を理解するために、原因遺伝子であるubiquitin protein ligase遺伝子(UBE3A)の変異解析を行った。全国から集積したAS患者82名を対象として、系統的な分子遺伝学的診断を行った。解析には、私たちが開発したPCRメチル化テストを中心とする方法を用いて実施した。UBE3A遺伝子の変異解析はPCR-SSCP方に加えて、直接シークエンス法を用いて実施し、解析の精度を高めた。その結果、父性片親性ダイソミー1例、刷り込み変異例4例を本研究において同定することができた。UBE3A遺伝子に変異を有する患者は同定されなかった。本研究におけるAS多数例の解析により、AS患者において、UBE3A遺伝子変異が原因である例は非常に少ないことが明らかになった。むしろ、片親性ダイソミーや刷り込み変異例の方が多かった。これらの結果は遺伝相談を行う上で、重要である。さらに、本研究における患者の集積に伴い、稀な合併症を有する患者を同定した。ASに眼皮膚白皮症2型(OCA2)を合


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