未登录
分享
收藏Reciprocal regulation between autism risk gene POGZ and circadian clock自闭症风险基因POGZ与时钟基因的互惠调控
Wu, Ting; He, Jiao; Xu, Chu-Jun; Li, Chi-Yu; Zhang, Pingchuan; Wang, Yanfeng; Zhu, Shanshan; Zhang, Lusi; Zhu, Jingtan; Zhang, Jing; Li, Jia-Da; Liu, Huadie
分享
收藏Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development彭X.; 贾X.; 王H.; 陈J.; 张X.; 谭S.; 段X.; 丘C.; 胡M.; 侯H.; 等. 破坏整合器复合物亚基INTS6会导致神经发育障碍并损害神经发生和突触发育。J. Clin. Investig. 2025, 18, e191729. [Google Scholar] [CrossRef]
Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J.; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Cuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A.; Van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H.; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui
分享
收藏Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic HypogonadismCHD7、FGFR1和ANOS1基因中剪接位点变异的功能验证及表型谱研究在先天性低促性腺激素性性腺功能减退症中的应用
Li, Yuting; Zhang, Pingchuan; Guan, Jun; He, Chengli; Fu, Jianglan; Zheng, Ruizhi; Chen, Danna; Tang, Xiong; Men, Meichao; Chen, Zhiheng; Li, Jia-Da
分享
收藏
分享
收藏
分享
收藏
分享
收藏Octyl succinic anhydride-modified chitosan/oxidized sodium alginate Schiff base hydrogel loaded with terbinafine hydrochloride: pH-responsive , self-repairing, antifungal properties辛基琥珀酸酐修饰的壳聚糖/氧化海藻酸钠希夫碱水凝胶负载特比萘芬盐酸盐:pH响应性、自修复、抗真菌性能
Liu, Chengzhi; Zhong, Yawen; Xiang, Yifei; Qin, Lanqian; Li, Jiada; Huang, Luyuan; Ning, Junkai; He, Weiwei; Wu, Chunxuan; Cheng, Qiuqi; Yi, Dandan; Liu, Niu; Xu, Chuang; Liang, Zhengmin; He, Jiakang
分享
收藏
分享
收藏
分享
收藏KCTD10 p.C124W variant contributes to schizophrenia by attenuating LLPS- mediated synapse formationKCTD10 p.C124W变体通过减弱LLPS介导的突触形成而导致精神分裂症
Mu, Chenjun; Liu, Pan; Liu, Liang; Wang, Yaqing; Liu, Kefu; Li, Xiangyu; Li, Guozhong; Cheng, Jianbo; Bu, Mengyao; Chen, Han; Tang, Manpei; Yao, Yuanhang; Guan, Jun; Ma, Tiantian; Zhou, Zhengrong; Wu, Qingfeng; Li, Jiada; Guo, Hui; Xia, Kun; Hu, Zhengmao; Peng, Xiaoqing; Lang, Bing; Li, Faxiang; Chen, Xiao - wei; Xu, Zhiheng; Yuan, Ling
分享
收藏
分享
收藏Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis
He, Hailan; Cao, Xiaoshuang; He, Fang; Zhang, Wen; Wang, Xiaole; Peng, Pan; Xie, Changning; Yin, Fei; Li, Dengfeng; Li, Jiada; Wang, Minghui; Kluessendorf, Malte; Jentsch, Thomas J.; Stauber, Tobias; Peng, Jing
分享
收藏KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13
Cheng, Jianbo; Wang, Zhen; Tang, Manpei; Zhang, Wen; Li, Guozhong; Tan, Senwei; Mu, Chenjun; Hu, Mengyuan; Zhang, Dan; Jia, Xiangbin; Wen, Yangxuan; Guo, Hui; Xu, Dan; Liu, Liang; Li, Jiada; Xia, Kun; Li, Faxiang; Duan, Ranhui; Xu, Zhiheng; Yuan, Ling
分享
收藏
分享
收藏Cry1?11 mutation induces ADHD-like symptoms through hyperactive dopamine D1 receptor signaling
Liu, Dengfeng; Xie, Zhengyu; Gu, Panyang; Li, Xiangyu; Zhang, Yichun; Wang, Xinying; Chen, Zhiheng; Deng, Suixin; Shu, Yousheng; Li, Jia-Da
分享
收藏
分享
收藏A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism
Wang, Xinying; Chen, Danna; Zhao, Yaguang; Men, Meichao; Chen, Zhiheng; Jiang, Fang; Zheng, Ruizhi; Stamou, Maria, I; Plummer, Lacey; Balasubramanian, Ravikumar; Li, Jia-Da
分享
收藏GSN gene frameshift mutations in Alzheimer's disease
Jiang, Yaling; Wan, Meidan; Xiao, XueWen; Lin, Zhuojie; Liu, Xixi; Zhou, Yafang; Liao, Xinxin; Lin, Jingyi; Zhou, Hui; Zhou, Lu; Weng, Ling; Wang, Junling; Guo, Jifeng; Jiang, Hong; Zhang, Zhuohua; Xia, Kun; Li, Jiada; Tang, Beisha; Jiao, Bin; Shen, Lu
分享
收藏