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

细胞内信号通路受损引起的先天性异常综合征的分子分析

• 批准号: 20390290
• 负责人: MATSUBARA Yoichi
• 金额: $ 11.9万
• 依托单位: Tohoku University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20390290/
• 关键词: 遺伝; 先天異常学; 細胞内シグナル伝達; 遺伝子診断; RAS; シグナル伝達; 遺伝子変異; 癌遺伝子; MAPK; 疾患モデルマウス; 遣伝子変異

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.

我们收集了350名Noonan综合征、Costello综合征、CFC综合征患者的DNA样本，并对9个致病基因进行了突变分析，其中包括一个新基因。观察到基因型与表型的相关性。我们揭示了RAF1突变的分子发病机制。成功生成模型小鼠。

项目成果

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 Receptor

• DOI: 10.1203/pdr.0b013e3181799562
• 发表时间: 2008-09
• 期刊: Pediatric Research
• 影响因子: 3.6
• 作者: Kanako Kojima‐Ishii;S. Kure;A. Ichinohe;T. Shinka;A. Narisawa;Shoko Komatsuzaki;J. Kanno;Fumiaki Kamada;Y. Aoki;H. Yokoyama;M. Oda;T. Sugawara;K. Mizoi;D. Nakahara;Y. Matsubara

Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from Chromosome

间质缺失和染色体小标记环胎儿产前诊断的意义

• 发表时间: 2011
• 期刊: Am J Med Genet A
• 影响因子: 2
• 作者: Ohashi H;Suzumori K;Chisaka Y;Sonta S;Kobayashi T;Aoki Y;Matsubara Y;Sone M;Shaffer LG
• 通讯作者: Shaffer LG

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

• DOI: 10.1007/s10038-008-0320-0
• 发表时间: 2008-09-01
• 期刊: JOURNAL OF HUMAN GENETICS
• 影响因子: 3.5
• 作者: Narumi, Yoko;Aoki, Yoko;Matsubara, Yoichi
• 通讯作者: Matsubara, Yoichi

わが国における希少遺伝性疾患の遺伝子診断ネットワークの構築

日本罕见遗传病基因诊断网络建设

• 发表时间: 2008
• 作者: 松原洋一;ら
• 通讯作者: ら

Contributors to the Human Variome Project Planning Meeting

人类变异组项目规划会议的贡献者

• 发表时间: 2009
• 期刊: Planning the human variome project : the Spain report. Hum Mutat
• 作者: 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
• 通讯作者: Cavedon