龚瑶琴

学术任职

山东大学基础医学院医学遗传学系教授，博士生导师，长江学者奖励计划特聘教授，国家杰出青年基金获得者。兼任中华医学会医学遗传学分会主委、山东省遗传学会副理事长。

科研成果

主要从事单基因遗传病致病基因发现和功能研究工作。先后发现人类Noggin基因突变导致指趾关节骨性融合、人类LRP5基因突变导致骨质疏松－假性神经胶质瘤综合征、人类CUL4B基因突变导致X连锁智力低下综合征、SLC33A1突变导致遗传性痉挛性截瘫等，近年来围绕新近发现的CUL4B基因在个体发育和疾病发生中的作用及其机制开展了系列研究工作，发现CUL4B复合物CRL4B是重要的表观调控因子，通过表观抑制多种基因的转录而在个体发育和肿瘤发生发展中发挥重要作用。相关研究结果发表在《Cell》、《Nature Genetics》、《Cancer Cell》、《Am J Hum Genet》、《J Cell Biology》等杂志上。做为项目负责人承担国家973、国家杰出青年基金、国家自然科学基金重点项目等科研项目。

文献发表

Serum cyclin-dependent kinase 9 is a potential biomarker of atherosclerotic inflammation.
Oncotarget. 2015 Dec 1. doi: 10.18632/oncotarget.6443.
 
Lack of interferon-γ receptor results in a microenvironment favorable for intestinal tumorigenesis.
Oncotarget. 2016 Jun 7. doi: 10.18632/oncotarget.9867.
 
NPR-C gene polymorphism is associated with increased susceptibility to coronary artery disease in Chinese Han population: a multicenter study.
Oncotarget. 2016 May 13. doi: 10.18632/oncotarget.9358.
 
GSH-dependent antioxidant defense contributes to the acclimation of colon cancer cells to acidic microenvironment.
Cell Cycle. 2016 Apr 17;15(8):1125-33. doi: 10.1080/15384101.2016.1158374.
 
DNM2 mutations in Chinese Han patients with centronuclear myopathy.
Neurol Sci. 2016 Jun;37(6):995-8. doi: 10.1007/s10072-016-2513-1.
 
Serum cyclin-dependent kinase 9 is a potential biomarker of atherosclerotic inflammation.
Oncotarget. 2016 Jan 12;7(2):1854-62. doi: 10.18632/oncotarget.6443.
 
ORMDL3 contributes to the risk of atherosclerosis in Chinese Han population and mediates oxidized low-density lipoprotein-induced autophagy in endothelial cells.
Sci Rep. 2015 Nov 25;5:17194. doi: 10.1038/srep17194.
 
The CUL4B/AKT/β-Catenin Axis Restricts the Accumulation of Myeloid-Derived Suppressor Cells to Prohibit the Establishment of a Tumor-Permissive Microenvironment.
Cancer Res. 2015 Dec 1;75(23):5070-83. doi: 10.1158/0008-5472.CAN-15-0898.
 
Idebenone protects against oxidized low density lipoprotein induced mitochondrial dysfunction in vascular endothelial cells via GSK3β/β-catenin signalling pathways.
Biochem Biophys Res Commun. 2015 Sep 25;465(3):548-55. doi: 10.1016/j.bbrc.2015.08.058.
 
Isoliensinine induces apoptosis in triple-negative human breast cancer cells through ROS generation and p38 MAPK/JNK activation.
Sci Rep. 2015 Jul 29;5:12579. doi: 10.1038/srep12579.
 
MiR-135b-5p and MiR-499a-3p Promote Cell Proliferation and Migration in Atherosclerosis by Directly Targeting MEF2C.
Sci Rep. 2015 Jul 17;5:12276. doi: 10.1038/srep12276.