2010 Fiscal Year Final Research Report
Molecular and biochemical analysis of mutants identified in patients with RAS/MAPK syndromes.
| Project/Area Number |
21689029
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
新堀 哲也 Tohoku University, 大学院・医学系研究科, 助教 (40436134)
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| Project Period (FY) |
2009 – 2010
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| Keywords | 先天異常学 / ヌーナン症候群 / コステロ症候群 / CFC症候群 / RAS / MAPK症候群 |
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| Research Abstract |
Mutation analysis in patients with the RAS/MAPK syndromes was performed. SHOC2 gene was analyzed in 92 patients with the RAS/MAPK syndromes. Eight patients had SHOC2_p.S2G mutation. To understand the mechanism underlying the pathogenesis of the RAS/MAPK syndromes, we performed functional analysis of RAF1 and HRAS mutants identified in the patients.
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[Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.2011
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.
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Journal Title
J Hum Genet 56(1)
Pages: 34-40
Peer Reviewed
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[Journal Article] Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.2010
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.
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Journal Title
J Hum Genet 55(12)
Pages: 801-809
Peer Reviewed
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[Journal Article] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation.2010
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.
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Journal Title
Hum Mutat 31(3)
Pages: 284-294
Peer Reviewed
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[Presentation] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan.2010
Author(s)
Abe Y, Aoki Y, Niihori T, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Ogata T, Kuriyama S, Kure S, Matsubara Y.
Organizer
The American Society of Human Genetics 60th annual meeting.
Place of Presentation
ワシントンDC、米国
Year and Date
2010-11-05
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[Presentation] Hematologic abnormalities associated with patients with cardio-facio-cutaneous syndrome.2010
Author(s)
Saito Y, Aoki Y, Niihori T, Ohtake A, Shibuya A, Sekiguchi K, Suenobu S, Izumi T, Muramatsu H, Kojima S, Kure S, Tsuchiya S, Matsubara Y.
Organizer
The American Society of Human Genetics 60th annual meeting.
Place of Presentation
ワシントンDC、米国
Year and Date
2010-11-05
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[Presentation] SHOC2 mutation analysis in Noonan-like syndrome and hematologic malignancies.2010
Author(s)
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RCM, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y.
Organizer
The American Society of Human Genetics 60th annual meeting.
Place of Presentation
ワシントンDC、米国
Year and Date
2010-11-05
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