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

The association between early pregnancy infection with SARS-CoV-2 and fetal birth defects: a prospective study

早期妊娠感染SARS-CoV-2与胎儿出生缺陷之间的关联:一项前瞻性研究

Luo, Jiaxin; Liu, Peisen; Chen, Pengxi; Zhou, Xia; Ma, Yueru; Lin, Wenxiao; Lai, Keying; Cui, Jingyi; Mi, Chunmei; Wu, Xi; Yuan, Xiying; Ke, Weilin; Li, Zhuo; Wu, Lingqian

Pyrimidine synthase CAD deamidates and inactivates p53

嘧啶合酶CAD脱酰胺作用使p53失活

Qi, Yue; Tan, Zizheng; Chen, Hanyu; Xiao, Ziqi; Zhang, Liang; Wu, Boxuan; Liu, Chennan; Gao, Yunqian; Yang, Xueyan; Wu, Lingqian; Lu, Lei; Wang, Hongyan

The LINC01315-encoded small protein YAPer-ORF competes with PRP4k to hijack YAP signaling to aberrantly promote cell growth.

LINC01315 编码的小蛋白 YAPer-ORF 与 PRP4k 竞争,劫持 YAP 信号传导,从而异常地促进细胞生长

Xie Zhu, Li Chao, Huang Rui, Wu Bo, Huang Qian, Zhang Zhe, Zhao Tongjin, Wu Lingqian, Li Chengtao, Shen Jianfeng, Wang Hongyan

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns

利用长读长测序技术对21239名新生儿进行先天性肾上腺皮质增生症的基因特征分析和筛查

Liang, Desheng; Zhu, Min; Liang, Qiaowei; Qiang, Rong; Yu, Lei; Xu, Shiyi; Li, Menglin; Song, Jieping; Zhou, Yulin; He, Xiaoyan; Huang, Yonglan; Jin, Hua; Tan, Jianqiang; Liu, Hui; Xia, Aihua; Liu, Yingdi; Liu, Peisen; Li, Zhuo; Wang, Ruifang; Wang, Dongjuan; Zhang, Ruixue; Pu, Qian; Zhou, Jinfu; Xu, Runhong; Wang, Xudong; Tan, Minyi; Chen, Dayu; Wu, Chaoyan; Cui, Di; Mao, Aiping; Zhou, Wenhao; Qiu, Wenjuan; Wu, Lingqian

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

寡基因效应与常染色体显性遗传性耳聋的临床异质性相关-15

Pan, Jianyan; Teng, Hua; Liu, Fang; Chen, Siyi; Liu, Yaning; Teng, Yanling; Liang, Desheng; Li, Zhuo; Wu, Lingqian

Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.

CNNM2 中的两个新变异会破坏镁离子外流,导致神经发育障碍

Li Huijuan, Liu Jing, Liu Yingdi, Liu Yaning, Lu Kehui, Wen Juan, Zhu Huimin, Liang Desheng, Li Zhuo, Wu Lingqian

The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.

中国298个成骨不全症家庭的致病变异和表型谱

Zhou Siji, Ren Xiuzhi, Cao Yixuan, Mi Huan, Han Mingchen, Li Lulu, Jiang Chendan, Ye Yuqian, Zheng Chaoqun, Zhao Binshan, Yang Tao, Wu Nan, Li Zhen, Wu Lingqian, Zhao Xiuli

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases

超声检查发现胎儿心脏横纹肌瘤的全外显子组测序:12例病例分析

Liu, Jing; He, Jun; Tang, Wanglan; Chen, Jing; Luo, Yingchun; Li, Haoxian; Li, Zhuo; Wu, Lingqian

A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications

一名患有45,X/46,XY嵌合体且完全性性腺发育不全的女性,在接受卵子捐赠并克服多次妊娠并发症后,成功分娩,实属罕见。

Luo, Yingliu; Liao, Xi; Wen, Juan; Wu, Weijuan; Tang, Guizhi; Zhu, Huimin; Jiang, Yulin; Liang, Desheng; Li, Zhuo; Wu, Lingqian

PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation

PIGK缺陷诱导浦肯野细胞凋亡并加速神经外胚层分化

Chen, Siyi; You, Jiali; Zhou, Xiaowei; Li, Yan; Liu, Fang; Teng, Yanling; Teng, Hua; Li, Yunlong; Liang, Desheng; Li, Zhuo; Wu, Lingqian