未登录Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility
Wang, Weijie; Guo, Jing; Shi, Juanzi; Li, Qun; Chen, Biaobang; Pan, Zhiqi; Qu, Ronggui; Fu, Jing; Shi, Rong; Xue, Xia; Mu, Jian; Zhang, Zhihua; Wu, Tianyu; Wang, Wenjing; Zhao, Lin; Li, Qiaoli; He, Lin; Sun, Xiaoxi; Sang, Qing; Lin, Ge; Wang, Lei .png)
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收藏Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects从头突变的大规模分析确定了以卵母细胞和早期胚胎缺陷为特征的女性不育的危险基因Li, Qun; Zhao, Lin; Zeng, Yang; Kuang, Yanping; Guan, Yichun; Chen, Biaobang; Xu, Shiru; Tang, Bin; Wu, Ling; Mao, Xiaoyan; Sun, Xiaoxi; Shi, Juanzi; Xu, Peng; Diao, Feiyang; Xue, Songguo; Bao, Shihua; Meng, Qingxia; Yuan, Ping; Wang, Wenjun; Ma, Ning; Song, Di; Xu, Bei; Dong, Jie; Mu, Jian; Zhang, Zhihua; Fan, Huizhen; Gu, Hao; Li, Qiaoli; He, Lin; Jin, Li; Wang, Lei; Sang, Qing 分享 收藏 Karyopherin α deficiency contributes to human preimplantation embryo arrest核蛋白 α 缺乏导致人类植入前胚胎停滞Wang, Wenjing; Miyamoto, Yoichi; Chen, Biaobang; Shi, Juanzi; Diao, Feiyang; Zheng, Wei; Li, Qun; Yu, Lan; Li, Lin; Xu, Yao; Wu, Ling; Mao, Xiaoyan; Fu, Jing; Li, Bin; Yan, Zheng; Shi, Rong; Xue, Xia; Mu, Jian; Zhang, Zhihua; Wu, Tianyu; Zhao, Lin; Wang, Weijie; Zhou, Zhou; Dong, Jie; Li, Qiaoli; Jin, Li; He, Lin; Sun, Xiaoxi; Lin, Ge; Kuang, Yanping; Wang, Lei; Sang, Qing 分享 收藏 Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrestLHX8中的杂合功能缺失变体导致以卵母细胞成熟停滞为特征的女性不育Zhao, Lin; Li, Qun; Kuang, Yanping; Xu, Peng; Sun, Xiaoxi; Meng, Qingxia; Wang, Wenjing; Zeng, Yang; Chen, Biaobang; Fu, Jing; Dong, Jie; Zhu, Jiawei; Luo, Yuxi; Gu, Hao; Li, Caihong; Li, Chunyi; Wu, Ling; Mao, Xiaoyan; Fan, Huizhen; Liu, Ruyi; Zhang, Zhihua; Li, Qiaoli; Du, Jing; He, Lin; Jin, Li; Wang, Lei; Sang, Qing 分享 收藏 Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromesZhou, Wei; Sun, Jing; Huai, Cong; Liu, Yunxi; Chen, Luan; Yi, Zhenghui; Lv, Qinyu; Song, Chuanfu; Zhu, Wenli; Liu, Chuanxin; Weng, Saizheng; Wu, Hao; Sun, Yidan; Zhang, Runshuai; Wu, Lianfeng; Li, Mo; Zhu, Jinhang; Zhang, Yingtian; Wei, Muyun; Guo, Yujian; Huang, Sijia; Zhang, Na; Shen, Ruoxi; Zhang, Ying; Du, Huihui; Huang, Hailiang; He, Lin; Sun, Xiaofang; Shen, Lu; Qin, Shengying 分享 收藏 Integrated single-cell RNA-seq and DNA methylation reveal the effects of air pollution in patients with recurrent spontaneous abortionZhu, Weiqiang; Gu, Yan; Li, Min; Zhang, Zhaofeng; Liu, Junwei; Mao, Yanyan; Zhu, Qianxi; Zhao, Lin; Shen, Yupei; Chen, Fujia; Xia, Lingjin; He, Lin; Du, Jing 分享 收藏 分享 收藏 Offspring production of haploid spermatid-like cells derived from mouse female germline stem cells with chromatin condensationHu, Xiaopeng; Wang, Hu; Tian, Geng G.; Hou, Changliang; Xu, Bo; Zhao, Xinyan; Zhao, Yongqiang; Fang, Qian; Li, Xinyue; He, Lin; Chen, Xuejin; Li, Shangang; Wu, Ji 分享 收藏 FBXO43 variants in patients with female infertility characterized by early embryonic arrest以早期胚胎停滞为特征的女性不孕症患者的FBXO43变体Wang, Weijie; Wang, Wenjing; Xu, Yao; Shi, Juanzi; Fu, Jing; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Zhao, Lin; Lin, Jing; Du, Jing; Li, Qiaoli; He, Lin; Jin, Li; Sun, Xiaoxi; Wang, Lei; Sang, Qing 分享 收藏 Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failureDong, Jie; Zhang, Hong; Mao, Xiaoyan; Zhu, Junhua; Li, Da; Fu, Jing; Hu, Jijun; Wu, Ling; Chen, Biaobang; Sun, Yiming; Mu, Jian; Zhang, Zhihua; Sun, Xiaoxi; Zhao, Lin; Wang, Wenjing; Wang, Weijie; Zhou, Zhou; Zeng, Yang; Du, Jing; Li, Qiaoli; He, Lin; Jin, Li; Kuang, Yanping; Wang, Lei; Sang, Qing 分享 收藏 Homozygous variants in PANX1 cause human oocyte death and female infertilityWang, Weijie; Qu, Ronggui; Dou, Qian; Wu, Fengyan; Wang, Wenjing; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Zhao, Lin; Zhou, Zhou; Dong, Jie; Zeng, Yang; Liu, Ruyi; Du, Jing; Zhu, Shujia; Li, Qiaoli; He, Lin; Jin, Li; Wang, Lei; Sang, Qing 分享 收藏 Novel mutations inLHCGR(luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndromeZhang, Zhihua; Wu, Ling; Diao, Feiyang; Chen, Biaobang; Fu, Jing; Mao, Xiaoyan; Yan, Zheng; Li, Bin; Mu, Jian; Zhou, Zhou; Wang, Wenjing; Zhao, Lin; Dong, Jie; Zeng, Yang; Du, Jing; Kuang, Yanping; Sun, Xiaoxi; He, Lin; Sang, Qing; Wang, Lei 分享 收藏 Novel susceptibility loci for A(H7N9) infection identified by next generation sequencing and functional analysisZhao, Baihui; Chen, Yongkun; Li, Mo; Zhou, Jianfang; Teng, Zheng; Chen, Jian; Zhao, Xue; Wu, Hao; Bai, Tian; Mao, Shenghua; Fang, Fanghao; Chu, Wei; Huang, Hailiang; Huai, Cong; Shen, Lu; Zhou, Wei; Sun, Liangdan; Zheng, Xiaodong; Cheng, Guangxia; Sun, Ye; Wang, Dayan; He, Lin; Shu, Yuelong; Zhang, Xi; Qin, Shengying 分享 收藏 Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic developmentZhao, Lin; Xue, Songguo; Yao, Zhongyuan; Shi, Juanzi; Chen, Biaobang; Wu, Ling; Sun, Lihua; Xu, Yao; Yan, Zheng; Li, Bin; Mao, Xiaoyan; Fu, Jing; Zhang, Zhihua; Mu, Jian; Wang, Wenjing; Du, Jing; Liu, Shuai; Dong, Jie; Wang, Weijie; Li, Qiaoli; He, Lin; Jin, Li; Liang, Xiaozhen; Kuang, Yanping; Sun, Xiaoxi; Wang, Lei; Sang, Qing 分享 收藏 Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation ArrestZhang, Zhihua; Li, Bin; Fu, Jing; Li, Rong; Diao, Feiyang; Li, Caihong; Chen, Biaobang; Du, Jing; Zhou, Zhou; Mu, Jian; Yan, Zheng; Wu, Ling; Liu, Shuai; Wang, Wenjing; Zhao, Lin; Dong, Jie; He, Lin; Liang, Xiaozhen; Kuang, Yanping; Sun, Xiaoxi; Sang, Qing; Wang, Lei 分享 收藏 Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations鉴定女性不育症中TUBB8的新突变和具有TUBB8突变的卵母细胞中大极体的新表型Zhao, Lin; Guan, Yichun; Wang, Wenjing; Chen, Biaobang; Xu, Shiru; Wu, Ling; Yan, Zheng; Li, Bin; Fu, Jing; Shi, Rong; Shi, Juanzi; Du, Jing; Li, Qiaoli; Zhang, Zhihua; Mu, Jian; Zhou, Zhou; Dong, Jie; Jin, Li; He, Lin; Sun, Xiaoxi; Kuang, Yanping; Wang, Lei; Sang, Qing 分享 收藏 Genetic regulatory subnetworks and key regulating genes in rat hippocampus perturbed by prenatal malnutrition: implications for major brain disordersChen, Jiaying; Zhao, Xinzhi; Cui, Li; He, Guang; Wang, Xinhui; Wang, Fudi; Duan, Shiwei; He, Lin; Li, Qiang; Yu, Xiaodan; Zhang, Fuquan; Xu, Mingqing 分享 收藏 The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activationMu, Jian; Zhang, Zhihua; Wu, Ling; Fu, Jing; Chen, Biaobang; Yan, Zheng; Li, Bin; Zhou, Zhou; Wang, Wenjing; Zhao, Lin; Dong, Jie; Kuang, Yanping; Sun, Xiaoxi; He, Lin; Wang, Lei; Sang, Qing 分享 收藏 Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrestWang, Wenjing; Dong, Jie; Chen, Biaobang; Du, Jing; Kuang, Yanping; Sun, Xiaoxi; Fu, Jing; Li, Bin; Mu, Jian; Zhang, Zhihua; Zhou, Zhou; Lin, Zhao; Wu, Ling; Yan, Zheng; Mao, Xiaoyan; Li, Qiaoli; He, Lin; Wang, Lei; Sang, Qing 分享 收藏 
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