特发性低促性腺激素性性腺功能减退症的致病机制研究

81770780
2017
H0702.松果体、下丘脑、垂体及相关疾病
李家大
面上项目
研究员
中南大学
65万元
全外显子组测序;遗传学;特发性低促性腺激素性性腺功能减退症;分子病理机制;促性腺激素释放激素
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 RNF216 regulates meiosis and PKA stability in the testes. 期刊论文 Li Dengfeng;Li Fangfang;Meng Lanlan;Wei Huafang;Zhang Qianjun;Jiang Fang;Chen Dan-Na;Li Wei;Tan Yue-Qiu;Li Jia-Da
2 Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism 期刊论文 Dai Wenting;Li Jia-Da;Zhao Yaguang;Wu Jiayu;Jiang Fang;Chen Dan-Na;Zheng Ruizhi;Men Meichao
3 Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism. 期刊论文 Men Meichao;Wang Xinying;Wu Jiayu;Zeng Wang;Jiang Fang;Zheng Ruizhi;Li Jia-Da
4 The Roles of Post-translational Modifications on alpha-Synuclein in the Pathogenesis of Parkinson's Diseases 期刊论文 Zhang Jiaming;Li Xiaoping;Li Jia Da
5 PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a G-protein leads to biased signaling 期刊论文 Zhao Yaguang;Wu Jiayu;Jia Hong;Wang Xinying;Zheng Ruizhi;Jiang Fang;Chen Dan-Na;Chen Zhiheng;Li Jia-Da
6 Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. 期刊论文 Men Meichao;Li Wu;Chen Hongsheng;Wu Jiayu;Feng Yong;Guo Hui;Li Jia-Da
7 Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice 期刊论文 Xing Xiaoliang;Zhang Jing;Wu Kunyang;Cao Beibei;Li Xianfeng;Jiang Fang;Hu Zhengmao;Xia Kun;Li Jia-Da
8 Effect of cisplatin on the clock genes expression in the liver, heart and kidney 期刊论文 Cao Bei-Bei;Li Dengfeng;Xing Xiaoliang;Zhao Yaguang;Wu Kunyang;Jiang Fang;Yin Wei;Li Jia-Da
9 A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhauser syndrome 期刊论文 Zheng Ruizhi;Zhao Yaguang;Wu Jiayu;Wang Yuanmei;Liu Jian-Ling;Zhou Zhi-Ling;Zhou Xiao-Tao;Chen Dan-Na;Liao Wei-Hua;Li Jia-Da
10 Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism 期刊论文 Hou Qiao;Wu Jiayu;Zhao Yaguang;Wang Xinying;Jiang Fang;Chen Dan-Na;Zheng Ruizhi;Men Meichao;Li Jia-Da
11 RNF216 Regulates the Migration o Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy 期刊论文 Li Fangfang;Li Dengfeng;Liu Huadie;Cao Bei-Bei;Jiang Fang;Chen Dan-Na;Li Jia-Da
12 Necdin regulates BMAL1 stability and circadian clock through SGT1-HSP90 chaperone machinery 期刊论文 Lu Renbin;Dong Yufan;Li Jia-Da
13 Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort 期刊论文 Li Jia-Da;Wu Jiayu;Zhao Yaguang;Wang Xinying;Jiang Fang;Hou Qiao;Chen Dan-Na;Zheng Ruizhi;Yu Renhe;Zhou Wei;Men Meichao
14 Locus-specific DNA methylation of Mecp2 promoter leads to autism-like phenotypes in mice 期刊论文 Lu Zongyang;Liu Zhen;Mao Wei;Wang Xinying;Zheng Xiaoguo;Chen Shanshan;Cao Beibei;Huang Shisheng;Zhang Xuliang;Zhou Tao;Zhang Yu;Huang Xingxu;Sun Qiang;Li Jia-Da
15 Prokineticins and their G protein-coupled receptors in health and disease. 期刊论文 Zhao Yaguang;Wu Jiayu;Wang Xinying;Jia Hong;Chen Dan-Na;Li Jia-Da
16 Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome 期刊论文 Dai Wenting;Wu Jiayu;Zhao Yaguang;Jiang Fang;Zheng Ruizhi;Chen Dan-Na;Men Meichao;Li Jia-Da
17 Hyperactive Akt-mTOR pathway as a therapeutic target for pain hypersensitivity in Cntnap2-deficient mice. 期刊论文 Xing Xiaoliang;Wu Kunyang;Dong Yufan;Zhou Yimei;Zhang Jing;Jiang Fang;Hu Wang-Ping;Li Jia-Da
18 Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism 期刊论文 Men Meichao;Wu Jiayu;Zhao Yaguang;Xing Xiaoliang;Jiang Fang;Zheng Ruizhi;Li Jia-Da
19 Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism. 期刊论文 Men Meichao;Chen Dan-Na;Li Jia-Da;Wang Xinying;Zeng Wang;Jiang Fang;Zheng Ruizhi;Dai Wenting
20 Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism. 期刊论文 Dai Wenting;Li Jia-Da;Wang Xinying;Zeng Wang;Jiang Fang;Zheng Ruizhi
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