毛母质瘤致病基因鉴定及致病分子机制研究

31871262
2018
C0604.表型、行为与疾病的遗传学基础
刘静宇
面上项目
研究员
中国科学院脑科学与智能技术卓越创新中心
60万元
单基因疾病;致病基因鉴定;毛母质瘤;小鼠模型;汉族
2019-01-01到2022-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
查看更多信息请先登录或注册
查看更多信息请先登录或注册
查看更多信息请先登录或注册
重置
序号 标题 类型 作者
1 Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl 期刊论文 Sun H;Cao Z;Gao R;Li Y;Chen R;Du S;Ma T;Wang J;Xu X;Liu JY
2 Norbisabolane-type sesquiterpenoid derivatives, benzofuran lignans and a phenolic glycoside from the roots of Glochidion wilsonii Hutch 期刊论文 Gao R;Xu X;Sun H;Cao Z;Chen R;Zeng X;Chen F;Liao M;Li J;Liu JY
3 PRMT7 modulates neuronal excitability by interacting with NaV1.9 期刊论文 Ma T;Li L;Chen R;Yang L;Sun H;Du S;Xu X;Cao Z;Zhang X Zhang L;Zhang L;Shi X;Liu JY
4 A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics 期刊论文 Chen R;Du S;Yao Y;Zhang L;Luo J;Shen Y Xu Z Zeng X Zhang;Xu Z;Zeng X;Zhang L;Liu M;Yin C;Tang BS;Tan J;Xu X;Liu JY
5 Mechanisms of PiT2-loop7 missense mutations induced Pi dyshomeostasis. 期刊论文 Sun H;Xu X;Luo J;Ma T;Cui J;Liu M;Xiong B;Zhu S;Liu JY
6 Germline mutation of PLCD1 contributes to human multiple pilomatricomas via PKD/ERK1/2 cascade and TRPV6. 期刊论文 Liu K;Luo J;Ma T;Fang M;Xu Z;Wang L;Zhang XY;Wen J;Liu C;Cao Y;Li X;Zhang L;Guo A;Wang N;Yi P;Liu JY
7 A Novel CDH1 mutation causing reduced E-cadherin dimerization is associated with Nonsyndromic Cleft Lip with or without Cleft Palate 期刊论文 Du S;Yang Y;Yi P;Luo J;Liu T;Chen R;Liu CJ;Ma T;Li Y;Wang C;Weng J;Liu M;Zhang L;Yang B;Zeng X;Liu JY
8 Impaired Fertility in 4930590J08Rik Mutant Male Mice is Associated with Defective Sperm Energy Metabolism 期刊论文 Chen R;Ma T;Du S;Luo J;Zhang H;Xu X;Cao Z;Yuan Q;Sun H;Liu M Xiong B Shi Q Liu JY;Xiong B;Shi Q Liu JY;Liu JY
9 Murine placental-fetal phosphate dyshomeostasis caused by an Xpr1 deficiency accelerates placental calcification and restricts fetal growth in late gestation 期刊论文 Xu X;Li X;Sun H;Cao Z;Gao R;Niu T;Wang Y;Ma T;Chen R;Wang C;Yang Z;Liu JY
10 Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China 期刊论文 Chen S;Cen Z;Fu F;Chen Y Chen X Yang D Wang;Chen X;Yang D;Wang H;Wu H;Zheng X;Xie F;Ouyang Z;Tang W;Zhang S;Yin L;Zhang Y;Meng P;Zhu X;Zhang H;Jiang F;Zhang K;He J;Zhang D;Ming H;Song D;Zhou Z;Luo Y;Gu Q;Su Y;Wu X;Tang H;Wu C;Chen W;Liu JY;Luo W;Chinese PFBC Study Group
查看更多信息请先登录或注册

相关项目

趋势报告

经验分享