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Noonan综合征/大动脉易位与PROSIT240相关关系的研究进展 被引量：2

Progress in Study of the Relationship Between Noonan Syndrome/TGA and PROSIT240
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摘要 PROSIT240是人们在研究Noonan综合征疑似患者平衡易位t(2;12)(q37;q24)时新发现的在12号染色体断位附近的人类基因,编码甲状腺激素核受体相关蛋白2(TRAP2)。PROSIT240广泛分布于从酵母到人类的真核生物,参与TRAP复合物在转录水平上调控生理过程的基因表达。PROSIT240在胚胎期和新生儿期起着至关重要的作用。PROSIT240突变可能与Noonan综合征、先天性心脏病和精神发育迟缓有密切关系,是弄清Noonan综合征、先天性心脏病及精神发育迟缓的发病机制的一个非常好的候选基因。
作者 石峰 李兰英
机构地区 天津医科大学内分泌研究所
出处 《国际儿科学杂志》 2006年第6期383-385,共3页 International Journal of Pediatrics
基金 国家自然科学基金资助项目(30230330) 天津市科委自然科学基金资助项目(033605711)
关键词 心脏缺损 先天性 精神发育迟滞 基因表达调控 发育期
分类号 R725.4 [医药卫生—儿科] R725.9 [医药卫生—儿科]
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参考文献14

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同被引文献17

  • 1Tetsuya Niihori,Yoko Aoki,Hirofumi Ohashi,Kenji Kurosawa,Tatsuro Kondoh,Satoshi Ishikiriyama,Hiroshi Kawame,Hotaka Kamasaki,Tsutomu Yamanaka,Fumio Takada,Kimio Nishio,Masahiro Sakurai,Hiroshi Tamai,Tatsuro Nagashima,Yoichi Suzuki,Shigeo Kure,Kunihiro Fujii,Masue Imaizumi,Yoichi Matsubara.Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia[J].Journal of Human Genetics.2005(4)
  • 2Tartaglia M,Mehler EL,Goldberg R,et al.Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome[].Nature Genetics.2001
  • 3S Schubbert,M Zenker,SL Rowe,S B?ll,C Klein,G Bollag,I Burgt,L Musante,V Kalscheuer,LE Wehner,H Nguyen,B West,KY Zhang,E Sistermans,A Rauch,CM Niemeyer,K Shannon,CP Kratz.Germline KRAS mutations cause Noonan syndrome[].Nature Genetics.2006
  • 4Roberts AE,Araki T,Swanson KD,et al.Germline gain-of-function mutations in SOS1 cause Noonan syndrome[].Nature Genetics.2007
  • 5Razzaque MA,Nishizawa T,Komoike Y et al.Germline gain-of-function mutations in RAF1 cause Noonan syndrome[].Nature Genetics.2007
  • 6Fragale,A,Tartaglia,M,Wu,J,Gelb,BD.Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation[].Human Mutation.2004
  • 7Zenker,M,Buheitel,G,Rauch,R.Genotype–phenotype correlations in Noonan syndrome[].The Journal of Pediatrics.2004
  • 8Musante L,Kehl HG,Majewski F et al.Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome[].European Journal.2003
  • 9Limal,JM,Parfait,B,Cabrol,S,Bonnet,D,Leheup,B,Lyonnet,S.Noonan syndrome: relationships between genotype, growth and growth factors[].The Journal of Clinical Endocrinology.2006
  • 10Dahlgren. Hormone Research . 2009

引证文献2

国际儿科学杂志
2006年 第6期

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