日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.

绘制非典型剪接变异图谱:揭示特发性男性不育症的隐藏遗传结构。

Li Kuokuo, Chen Yuge, Tang Dongdong, Sheng Yuying, Han Xu, Geng Hao, Zhang Na, Duan Zongliu, Wang Guanxiong, Gao Yang, Guo Rui, Hua Rong, Ding Zhiming, Xu Chuan, Shen Qunshan, Yu Zhen, Song Bing, Lv Mingrong, Xu Yuping, Wu Huan, Wu Ji, Cao Yunxia, He Xiaojin

Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation

Gene4Denovo2:一个用于发现和解读人类新生突变的更新平台

Zhu, Zhaopo; Yu, Pei; Mao, Xinxin; Liu, Chenbin; Li, Kuokuo; Zhou, Qiao; Wang, Yijing; Luo, Tengfei; Xiang, Xudong; Zhu, Yixiao; Wu, Dai; Jian, Xingxing; Li, Bin; Tang, Beisha; Xia, Kun; Zhao, Guihu; Li, Jinchen

CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice

CFAP251 缺陷通过破坏 TUBB4B 和 SLC25A4 的募集,导致人类和小鼠出现男性不育和类似 PCD 的纤毛缺陷

Liu, Liting; Wang, Zhanyu; Zhou, Yiling; Tang, Dongdong; Hua, Rong; Li, Kuokuo; Wang, Guanxiong; Yang, Fan; Liu, Chunyu; Cao, Yunxia; Wu, Huan; Gao, Yang; He, Xiaojin

ACADL and ADH1B signify ketone body metabolic reprogramming in osteoarthritic synovium: insights from bioinformatics and animal model studies.

ACADL 和 ADH1B 代表骨关节炎滑膜中酮体代谢重编程:来自生物信息学和动物模型研究的见解。

Li Kuokuo, Chen Bingshu, Yang Xun, Yuan Yijun, Yang Siyao, Liu Jinteng, Guo Jiawei, He Meng

MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.

MCM9 缺乏会损害精子发生过程中的 DNA 损伤修复,导致人类出现仅有支持细胞综合征

Sha Xuan, Zhang Xin, Geng Hao, Li Yuqian, Xia Xun, Li Guotong, Hua Rong, Li Kuokuo, Gao Yang, Shen Qunshan, Guo Rui, Xu Yuping, He Xiaojin, Cao Yunxia, Liu Mingxi, Wu Huan

Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia.

扩大 ARMC2 突变表型:将鞭毛的多种形态异常与原发性纤毛运动障碍的肺部表现联系起来

Wu Baoyan, Zhang Wenhao, Yu Hui, Ruan Lewen, Wang Kai, Gu Meng, Geng Hao, Fang Jiajun, Xu Chuan, Sheng Yuying, Tan Qing, Shen Qunshan, Duan Zongliu, Wu Huan, Hua Rong, Guo Rui, Wei Zhaolian, Zhou Ping, Xu Yuping, Cao Yunxia, He Xiaojin, Li Kuokuo, Lv Mingrong, Tang Dongdong

Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes

卵巢储备功能减退和卵巢早衰的遗传变异:对辅助生殖结果的影响

Xu, Qianhua; Ding, Haitian; Liu, Yingchun; Han, Dan; Xia, Xun; Li, Yuqian; Sha, Xuan; Li, Guotong; Ni, Xiaoqing; Li, Kuokuo; Hua, Rong; He, Xiaojin; Wu, Huan; Cao, Yunxia; Xu, Yuping

Cognition of the association between sexual dysfunction and fertility

对性功能障碍与生育能力之间关联的认知

Sheng, Yuying; Ruan, Lewen; Chen, Yuge; Han, Xu; Wu, Baoyan; Lv, Mingrong; Tang, Dongdong; Li, Kuokuo

Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2

通过结合显微睾丸取精术(micro-TESE)和卵胞浆内单精子注射(ICSI)治疗与RXFP2基因非经典剪接变异相关的隐睾症,可获得最佳妊娠结局。

Ruan, Lewen; Gu, Meng; Geng, Hao; Duan, Zongliu; Yu, Hui; Shao, Zhongmei; Li, Kuokuo; Lv, Mingrong; Tang, Dongdong

Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant

中国一个家族中,携带相同AR基因变异的雄激素不敏感综合征患者表现出不同的表型和生育结局

Geng, Hao; Tang, Dongdong; Li, Kuokuo; Xu, Chuan; Wang, Chao; Zhang, Xiansheng; He, Xiaojin; Cao, Yunxia