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2010 Fiscal Year Final Research Report

Molecular analysis of congenital anomaly syndromes caused by impaired intracellular signaling pathways

Research Project

  • PDF
Project/Area Number 20390290
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

MATSUBARA Yoichi  東北大学, 大学院・医学系研究科, 教授 (00209602)

Co-Investigator(Kenkyū-buntansha) KURE Shigeo  東北大学, 大学院・医学系研究科, 准教授 (10205221)
AOKI Yoko  東北大学, 大学院・医学系研究科, 准教授 (80332500)
Project Period (FY) 2008 – 2010
Keywords遺伝 / 先天異常学 / 細胞内シグナル伝達
Research Abstract

We have collected DNA samples from 350 patients with Noonan syndrome, Costello syndrome or CFC syndrome and performed mutation analysis of nine disease-causing genes including a novel gene. Genotype-phenotype correlations were observed. We revealed molecular pathogenesis of RAF1 mutations. Model mice were successfully generated.

  • Research Products

    (16 results)

All 2011 2010 2009 2008 Other

All Journal Article (14 results) (of which Peer Reviewed: 13 results) Presentation (1 results) Remarks (1 results)

  • [Journal Article] Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from Chromosome2011

    • Author(s)
      Ohashi H, Suzumori K, Chisaka Y, Sonta S, Kobayashi T, Aoki Y, Matsubara Y, Sone M, Shaffer LG
    • Journal Title

      Am J Med Genet A

      Volume: 155A(1) Pages: 192-6

    • Peer Reviewed
  • [Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene2011

    • Author(s)
      Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
    • Journal Title

      J Hum Genet

      Volume: 56(1) Pages: 34-40

    • Peer Reviewed
  • [Journal Article] Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination2011

    • Author(s)
      Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki M, Aoki Y, Matsubara Y
    • Journal Title

      Brain Dev

      Volume: 33(2) Pages: 166-9

    • Peer Reviewed
  • [Journal Article] A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder2010

    • Author(s)
      Watanabe Y, Yano S, Niihori T, Aoki Y, Matsubara Y, Yoshino M, Matsuishi T
    • Journal Title

      Brain Dev

    • Peer Reviewed
  • [Journal Article] Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies2010

    • Author(s)
      Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y
    • Journal Title

      J Hum Genet

      Volume: 55(12) Pages: 801-809

    • Peer Reviewed
  • [Journal Article] Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome2010

    • Author(s)
      Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y
    • Journal Title

      J Pediatr Hematol Oncol

    • Peer Reviewed
  • [Journal Article] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation2010

    • Author(s)
      Kobayashi T, Aoki Y, Niihori T, Cave H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y
    • Journal Title

      Human Mutation

      Volume: 31(3) Pages: 284-94

    • Peer Reviewed
  • [Journal Article] Contributors to the Human Variome Project Planning Meeting2009

    • Author(s)
      Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blocker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Diaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Moslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O' Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Topel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS
    • Journal Title

      Planning the human variome project : the Spain report. Hum Mutat

      Volume: 30(4) Pages: 496-510

    • Peer Reviewed
  • [Journal Article] BOSHI Study Group. Seasonal trends of blood pressure during pregnancy in Japan : the babies and their parents' longitudinal observation in Suzuki Memorial Hospital in Intrauterine Period study2008

    • Author(s)
      Metoki H, Ohkubo T, Watanabe Y, Nishimura M, Sato Y, Kawaguchi M, Hara A, Hirose T, Obara T, Asayama K, Kikuya M, Yagihashi K, Matsubara Y, Okamura K, Mori S, Suzuki M, Imai Y
    • Journal Title

      J Hypertens

      Volume: 26(12) Pages: 20406-13

  • [Journal Article] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome2008

    • Author(s)
      Narumi Y, Aoki Y, Niihori T, Sakurai M, Cave H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y
    • Journal Title

      J Hum Genet

      Volume: 53 Pages: 834-841

    • Peer Reviewed
  • [Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008

    • Author(s)
      Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y
    • Journal Title

      Hum Mutat

      Volume: 29(8) Pages: 992-1006

    • Peer Reviewed
  • [Journal Article] Association of the GABRB3 gene with nonsyndromic oral clefts2008

    • Author(s)
      Inoue H, Kayano S, Aoki Y, Kure S, Yamada A, Hata A, Matsubara Y, Suzuki Y
    • Journal Title

      Cleft Palate Craniofac J

      Volume: 45(3) Pages: 261-6

    • Peer Reviewed
  • [Journal Article] Model mice for mild-form glycine encephalopathy : behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor2008

    • Author(s)
      Kojima-ishii K, Kure S, Ichinohe A, Shinka T, Narisawa A, Komatsuzaki S, Kanno J, Kamada F, Aoki Y, Yokoyama H, Oda M, Sugawara T, Mizoi K, Nakahara D, Matsubara Y
    • Journal Title

      Pediatr Res

      Volume: 64 Pages: 228-233

    • Peer Reviewed
  • [Journal Article] Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome : Proceedings from the 1st International Costello Syndrome Research Symposium 2007.2008

    • Author(s)
      Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L
    • Journal Title

      Am J Med Genet A

      Volume: 146A(9) Pages: 1205-17

    • Peer Reviewed
  • [Presentation] Noonan症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの解明2010

    • Author(s)
      松原洋一
    • Organizer
      第17回日本遺伝子診療学会大会
    • Place of Presentation
      津
    • Year and Date
      2010-08-06
  • [Remarks]

    • URL

      http://www.medgen.med.tohoku.ac.jp/

URL: 

Published: 2013-07-31  

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