Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort [0.03%]
全外显子组测序在藏族先天性房间隔缺损患者中鉴定出新的致病基因变异
Hongwei Li,Yongjun He,Zhengyao Cai et al.
Hongwei Li et al.
Objective: Atrial septal defect (ASD) is a common congenital heart defect with incompletely understood genetic underpinnings, particularly in specific ethnic groups. This study aimed to identify novel genetic variants rel...
Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies [0.03%]
溃疡性结肠炎：发病机制、生物标志物和治疗策略的新进展
Siyuan Bu,Xiaozhen Cheng,Meng Chen et al.
Siyuan Bu et al.
Ulcerative colitis represents an inflammatory bowel disease with multiple contributing factors, marked by persistent inflammation of the colonic mucosa, which can lead to a reduced life expectancy and an elevated likelihood of requiring col...
The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data [0.03%]
一项关于潜在药物-药物-基因相互作用流行率的描述性研究：利用瑞士医疗索赔数据进行分析
Nina L Wittwer,Christoph R Meier,Carola A Huber et al.
Nina L Wittwer et al.
Purpose: We aimed to determine the prevalence of interactions between PGx drugs metabolized by CYP2C9, CYP2C19, and CYP2D6 and drugs that act as inhibitors or inducers of those enzymes in the Swiss population. ...
Association Between ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI [0.03%]
ABCB1基因多态性与氯吡格雷治疗后PCI患者高血糖及MACE的关系
Bo Zhou,Chuanshen Shi,Qike Xu et al.
Bo Zhou et al.
Purpose: To evaluate the effect of ABCB1 C3435T gene polymorphism with hyperglycemia on the risk of major adverse cardiovascular events (MACE) in patients treated with clopidogrel after percutaneous coronary intervention ...
Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review [0.03%]
肺腺癌合并EGFR基因L858R突变和KRAS基因G12A突变罕见病例报告及文献复习
Gang Wei,Jun Tang,Huaiwen Wang et al.
Gang Wei et al.
Background: KRAS mutations are typically mutually exclusive in non-small cell lung cancer (NSCLC), with the G12C mutation being the most common subtype. The coexistence of KRAS and EGFR mutations is exceedingly rare and i...
Construction of a Nomogram Model for Predicting Prognosis in Breast Cancer Patients Based on the Expression of THRSP and ACACA Proteins Tissues [0.03%]
基于THRSP和ACACA蛋白表达构建乳腺癌患者预后预测 nomogram 模型及效能分析
Benkai Wei,Fan Li,Huanhuan Yan et al.
Benkai Wei et al.
Background: This study aimed to analyze the expression of thyroid hormone-responsive spot 14 (THRSP) and acetyl-CoA carboxylase alpha (ACACA) proteins in breast cancer tumor tissues and their relationship with clinicopath...
Advances in the Clinical Use of Clopidogrel: A Review of Individualized Treatment Strategies and Monitoring Optimization Based on Genetic Polymorphisms [0.03%]
氯吡格雷临床应用新进展：基于遗传多态性的个体化治疗策略与监测优化评估综述
Nina Dou,Haiyan Ma,Ping Zhang et al.
Nina Dou et al.
This paper systematically reviews recent advances in clopidogrel clinical applications to optimize therapeutic precision and medication safety. Using a literature review methodology, we elucidate clopidogrel's pharmacokinetic properties and...
Molecular Genetic Analysis of a DMD Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing [0.03%]
MLPA和桑格测序分析DMD阅读框移位突变的分子遗传学研究
Qianwen Chen,Wenjuan Zhang,Lingfeng Zha
Qianwen Chen
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disease that is characterized by progressive proximal muscle weakness and pseudohypertrophy. Currently, genetic diagnosis of DMD relies largely on multiplex ligation-d...
Associations Between FTO Polymorphisms and Neuroblastoma Risk in Chinese Children [0.03%]
中国儿童FTO基因多态性与神经母细胞瘤风险的相关性研究
Peiqi Liu,Yue Li,Yong Li et al.
Peiqi Liu et al.
Background: Neuroblastoma (NB) is a malignancy of neural crest cells that primarily affects children. Single nucleotide polymorphisms (SNPs) in the fat mass and obesity-associated (FTO) gene, a well-conserved gene, have b...
Quercetin Inhibits Gastric Cancer Progression via FAM198B/MAPK Pathway Modulation [0.03%]
染料木素通过调节FAM198B/MAPK信号途径抑制胃癌进展
Hongyang Deng,Qi Xiao,Xiaodong Xu et al.
Hongyang Deng et al.
Background: The family with the sequence similarity 198 member B (FAM198B) has been found to contribute to the progression of gastric cancer (GC). However, the role and molecular mechanism of FAM198B in GC remains poorly ...