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期刊名:Human mutation

缩写:HUM MUTAT

ISSN:1059-7794

e-ISSN:1098-1004

IF/分区:3.7/Q2

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共收录本刊相关文章索引5095
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Yunfei Chen,Xiting Yang,Lintao Zhong et al. Yunfei Chen et al.
This study integrates single-cell RNA sequencing with Mendelian randomization to elucidate the role of nuclear factor of activated T cells (NFAT)-related genes in the progression of hepatocellular carcinoma (HCC). The GSE162616 dataset was ...
Runfeng Sun,Long Zhu,Zhichao Lu et al. Runfeng Sun et al.
Background: Transient receptor potential (TRP) channels regulate Ca2+ homeostasis and tumor malignant phenotypes, whereas their prognostic relevance and therapeutic implications in glioblastoma (GBM) remain poorly charact...
Jian-She Wang,Yi-Fan Qiu,Lu Zhang et al. Jian-She Wang et al.
Bladder cancer (BC) is a prevalent malignant tumor worldwide, posing a significant public health burden and challenge to human society. Current therapeutic modalities for BC include surgical treatment, radiotherapy, chemotherapy, targeted t...
Zehao Li,Boqiang Zhong,Qian Zhang et al. Zehao Li et al.
Background: Hepatocellular carcinoma (HCC) is a top cause of cancer-related death globally, with late diagnosis due to nonspecific early symptoms. Current single-factor prognostic models cannot reflect tumor heterogeneity...
Zhengyou Zhang,Shaowei Zhan,Ying Tang et al. Zhengyou Zhang et al.
Background: Differential diagnosis of pleural effusion remains challenging despite medical thoracoscopy (MT). We investigated whether integrating proteomic biomarkers with single-cell transcriptomics and genomic mutation ...
Muhammad Waleed Iqbal,Muhammad Shahab,Xinxiao Sun et al. Muhammad Waleed Iqbal et al.
Background and aim: Nonsynonymous single nucleotide polymorphisms (nsSNPs) in angiotensin Type II receptor (AGTR2) have been identified as a potential cause of cardiovascular illness in humans. Identifying structurally an...
Shuping Deng,Qi Wu,Dan Zhou et al. Shuping Deng et al.
Acute respiratory distress syndrome (ARDS) mainly results in severe respiratory failure and significant morbidity. This study decisively investigated the effectiveness and clinical importance of stromal interaction molecule 1 (STIM1) mRNA a...
Liwen Zhao,Zhe Song Liwen Zhao
Objective: Magnesium transporter 1 (MAGT1) plays a crucial role in magnesium homeostasis and immune regulation, yet its clinical significance and functional role in breast cancer remain largely unexplored. ...
Xiaoli Zhu,Li Zhong,Yanlin Xu et al. Xiaoli Zhu et al.
Background: Endometriosis (EM) is a chronic, estrogen-dependent disease that lacks reliable noninvasive diagnostic biomarkers. This study was aimed at evaluating the diagnostic value of PAX8 using integrated transcriptomi...
Yuxin Huang,Jiahui Fu,Zhongzhi Gan et al. Yuxin Huang et al.
Background and aims: MIRAGE syndrome is an autosomal-dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through...