RET基因新发突变和体细胞突变在先天性巨结肠的致病作用及机制研究

81771620
2017
H0421.新生儿相关疾病
姜茜
面上项目
研究员
首都儿科研究所
66万元
RET;新发突变;基于扩增子的深度测序;体细胞突变;先天性巨结肠
2018-01-01到2021-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 一种用于检测先天性巨结肠及相关综合征的致病/易感基因的探针组及试剂盒 专利 姜茜;伍建;李颀;林朋;龚勋;张震;肖萍;苏琳;李龙
2 Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations 期刊论文 Jiang Q;Wang Y;Li Q;Zhang Z;Xiao P;Wang H;Liu N;Wu J;Zhang F;Chakravarti A;Cai W;Li L
3 Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease 期刊论文 Wang Y;Jiang Q;Cai H;Xu Z;Wu W;Gu B;Li L;Cai W
4 Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease 期刊论文 Wang H;Li Q;Zhang Z;Xiao P;Li L;Jiang Q
5 RET somatic mutations are underrecognized in Hirschsprung disease 期刊论文 Jiang Q;Liu F;Miao C;Li Q;Zhang Z;Xiao P;Su L;Yu K;Chen X;Zhang F;Chakravarti A;Li L
6 Quantitative Proteomics Reveals Association of Neuron Projection Development Genes ARF4, KIF5B, and RAB8A With Hirschsprung Disease 期刊论文 Zhang Q;Wu L;Bai B;Li D;Xiao P;Li Q;Zhang Z;Wang H;Li L;Jiang Q
7 MicroRNA-4516-mediated regulation of MAPK10 relies on 3' UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease 期刊论文 Wang Y;Jiang Q;Chakravarti A;Cai H;Xu Z;Wu W;Gu B;Li L;Cai W
8 Response to Brosens et al 期刊论文 Jiang Q;Chen X;Zhang F;Chakravarti A;Li L
9 Clues From Ultrasound for an Infant With Failure to Thrive 期刊论文 Ma Y;Jiang Q;Wang Z
10 RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction 期刊论文 Jiang Q;Wang Y;Gao Y;Wang H;Zhang Z;Li Q;Xu S;Cai W;Li L
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