文献库，生知库 | 链接生命科学的每一步

日期影响因子

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders

跳过活检：全外显子组测序作为儿科肌肉疾病一线检测的真实世界经验

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms27052446

Lee, Chung-Lin; Chang, Ya-Hui; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Lin, Hsiang-Yu; Lin, Shuan-Pei

发表日期：2026

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Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia

病例报告：伴有双侧青光眼和圆锥角膜样角膜扩张的胶状骨发育不良患者中发现的新型ADAMTSL2复合杂合突变

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2026.1751809

Lee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Lin, Hsiang-Yu; Lin, Shuan-Pei

发育与干细胞

发表日期：2026

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From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome

从过度生长到复杂畸形：一种新的 EZH2 变异揭示了韦弗综合征不断扩展的临床谱

期刊:Children-Basel

影响因子:2.1

doi:10.3390/children12111487

Lee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Lin, Hsiang-Yu; Lin, Shuan-Pei

发表日期：2025

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Pyroptosis inhibitors MCC950 and VX-765 mitigate myocardial injury by alleviating oxidative stress, inflammation, and apoptosis in acute myocardial hypoxia

细胞焦亡抑制剂 MCC950 和 VX-765 通过减轻急性心肌缺氧中的氧化应激、炎症和细胞凋亡来减轻心肌损伤

期刊:Experimental Cell Research

影响因子:3.3

doi:10.1016/j.yexcr.2024.114061

Xing Ye, Zi-Jie Lin, Guang-Hui Hong, Zhi-Min Wang, Run-Ting Dou, Jun-Yi Lin, Jian-Hui Xie, Yi-Wen Shen

细胞生物学

发表日期：2024

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Early Tumor Marker Response Predicts Treatment Outcomes in Patients with Unresectable Hepatocellular Carcinoma Receiving Combined Lenvatinib, Immune Checkpoint Inhibitors, and Transcatheter Arterial Chemoembolization Therapy

早期肿瘤标志物反应可预测接受乐伐替尼、免疫检查点抑制剂和经导管动脉化疗栓塞治疗的不可切除肝细胞癌患者的治疗结果

期刊:Journal of Hepatocellular Carcinoma

影响因子:3.4

doi:10.2147/JHC.S425674

Luo, Meng-Chao; Wu, Jia-Yi; Wu, Jun-Yi; Lin, Zhong-Tai; Li, Yi-Nan; Zeng, Zhen-Xin; Wei, Shao-Ming; Yan, Mao-Lin

细胞生物学

免疫/内分泌

发表日期：2023

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SREBP1 deficiency diminishes glutamate-mediated HT22 cell damage and hippocampal neuronal pyroptosis induced by status epilepticus

SREBP1 缺乏可减轻谷氨酸介导的 HT22 细胞损伤和癫痫持续状态引起的海马神经元焦亡

影响因子:3.4

doi:10.1016/j.heliyon.2023.e23945

Xing Ye, Jun-Yi Lin, Ling-Xia Chen, Xue-Chun Wu, Kai-Jun Ma, Bei-Xu Li, You-Xin Fang

发表日期：2023

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Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study

中国遗传性痉挛性截瘫（HSP）患者：一项基于医院的队列研究方案

期刊:BMJ Open

影响因子:2.3

doi:10.1136/bmjopen-2021-054011

Qiu, Yu-Sen; Zeng, Yi-Heng; Yuan, Ru-Ying; Ye, Zhi-Xian; Bi, Jin; Lin, Xiao-Hong; Chen, Yi-Jun; Wang, Meng-Wen; Liu, Ying; Yao, Shao-Bo; Chen, Yi-Kun; Jiang, Jun-Yi; Lin, Yi; Lin, Xiang; Wang, Ning; Fu, Ying; Chen, Wan-Jin

发表日期：2022

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Gut microbiota contributes to the distinction between two traditional Chinese medicine syndromes of ulcerative colitis

肠道菌群有助于区分中医溃疡性结肠炎的两种证型。

期刊:World Journal of Gastroenterology

影响因子:5.4

doi:10.3748/wjg.v25.i25.3242

Zhang, Ya-Li; Cai, Li-Ting; Qi, Jun-Yi; Lin, Yun-Zheng; Dai, Yan-Cheng; Jiao, Na; Chen, You-Lan; Zheng, Lie; Wang, Bei-Bei; Zhu, Li-Xin; Tang, Zhi-Peng; Zhu, Rui-Xin

发表日期：2019

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A Comprehensive Analysis of Transcript-Supported De Novo Genes in Saccharomyces sensu stricto Yeasts

对酿酒酵母中转录本支持的从头基因的全面分析

期刊:Molecular Biology and Evolution

影响因子:5.3

doi:10.1093/molbev/msx210

Lu, Tzu-Chiao; Leu, Jun-Yi; Lin, Wen-Chang

发表日期：2017

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Overexpression of macrophage migration inhibitory factor in adenoid cystic carcinoma: correlation with enhanced metastatic potential

腺样囊性癌中巨噬细胞迁移抑制因子过度表达：与转移潜能增强的相关性

期刊:Journal of Cancer Research and Clinical Oncology

影响因子:2.8

doi:10.1007/s00432-012-1330-z

Liu, Hui; Chen, Gang; Zhang, Wei; Zhu, Jun-Yi; Lin, Zhao-Quan; Gong, Zhong-Cheng; Wang, Feng-Qin; Jia, Jun; Sun, Zhi-Jun; Zhao, Yi-Fang

细胞生物学

免疫/内分泌

发表日期：2013

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