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

Whole exome sequencing identified two novel mutations of ACD in Chinese patients with idiopathic pulmonary fibrosis.

全外显子组测序在中国特发性肺纤维化患者中发现了两种新的ACD突变。

Cao Gao-Hui, Yang Hui, Wang Qian, Luo Hong, Fan Liang-Liang, Liu Lv

Lipin3 deficiency promotes hepatocyte ferroptosis and pyroptosis via activating JAK1-STAT3 pathway during acetaminophen induced acute liver injury.

Lipin3 缺乏通过激活 JAK1-STAT3 通路促进对乙酰氨基酚引起的急性肝损伤期间的肝细胞铁死亡和焦亡。

Liu Yu-Xing, Wang Qian, Xiangyang Zi-Yu, Long Jie-Yi, Huang Hao, Fan Liang-Liang

Lipin3 deficiency aggravates cisplatin induced acute kidney injury via activating Sirt1-p21-Caspase 3-GSDME pyroptosis pathway.

Lipin3 缺乏通过激活 Sirt1-p21-Caspase 3-GSDME 细胞焦亡途径加重顺铂引起的急性肾损伤

Liu Yu-Xing, Huang Hao, Wang Fang, Zhao Mei-Fang, Jin Jie-Yuan, Dong Yi, Wang Qian, Fan Liang-Liang, Xiang Rong

RTN3 regulates collagen biosynthesis and profibrotic macrophage differentiation to promote pulmonary fibrosis via interacting with CRTH2.

RTN3 通过与 CRTH2 相互作用来调节胶原蛋白生物合成和促纤维化巨噬细胞分化,从而促进肺纤维化

Wang Chen-Yu, Chen Ya-Qin, Huang Hao, Yuan Zhuang-Zhuang, Dong Yi, Jin Jie-Yuan, Long Jie-Yi, Liu Lv, Fan Liang-Liang, Xiang Rong

A Rare TERT Mutation Associated with Idiopathic Pulmonary Fibrosis and COPD in a Chinese Family

中国家族中一种罕见的TERT基因突变与特发性肺纤维化和慢性阻塞性肺病相关

Fan, Liang-Liang; Feng, Dong-Cai; Long, Jie-Yi; Zhang, Ai-Qin

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

OFD1基因的一种新型致病性剪接突变导致一名男孩患有Joubert综合征,并伴有口面指(趾)畸形、多指(趾)畸形和色素性视网膜炎。

Chen, Liang; Zhao, Mei-Fang; Deng, Hui-Wen; Liao, Min; Fan, Liang-Liang; Zhong, Qi-Bao; Wang, Jun; Li, Ke; Wu, Zheng-Hui; Yin, Jian-Yin

A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report

一种新型DCC截断突变导致罕见的先天性镜像运动和胼胝体发育不全:病例报告

Cao, Gao-Hui; Zhang, Ai-Qian; Dong, Yi; Fan, Liang-Liang; Yin, Jian-Yin; Tang, Lu-Lu; Li, Ya-Li

Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss

WES和scRNA-Seq数据的整合分析揭示了不明原因复发性流产中免疫失调的遗传基础

Lin, Zhao-Jing; Zhu, Lei; Dong, Yi; Yun, Jiao; Zhi, Ya-Nan; Zhang, Wei; Sun, Yan-Mei; Jiang, Yu-Jie; Liu, Shu; Fan, Liang-Liang; Li, Ya-Li; Guo, Shuai

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts

病例报告:全外显子组测序在一个患有先天性白内障的中国家族中发现了一个新的MAF基因突变(p.Y301H)。

Lin, Zhao-Jing; Long, Jie-Yi; Li, Juan; Wang, Fang-Na; Chu, Wei; Zhu, Lei; Li, Ya-Li; Fan, Liang-Liang

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease

病例报告:髓鞘蛋白零基因中的一种新变异(H49N)导致一名夏科-马里-图斯病患者患病。

Cao, Gao-Hui; Zhao, Mei-Fang; Dong, Yi; Fan, Liang-Liang; Liu, Yi-Hui; Deng, Yao; Tang, Lu-Lu