Proteinase-activated receptor 2 (PAR-2) expression and F2RL1 genetic variants are associated with asthma: a case-control study in the Chinese population [0.03%]
蛋白酶激活受体2(PAR-2)表达和F2RL1基因多态性与哮喘的相关性：一项针对中国人群的病例对照研究
Guohuan Chen,Bizhi Zheng,Jinhe Cui
Guohuan Chen
Asthma is a chronic respiratory disorder characterized by airway inflammation, hyperresponsiveness, and reversible airflow obstruction. Despite therapeutic strategies, asthma remains inadequately controlled in many patients. Genetic predisp...
A common variant in NID1 gene associated with the prognosis of heart failure [0.03%]
与心力衰竭预后相关的NID1基因常见变异体
Dong Hu,Jing Zhao,Lei Xiao et al.
Dong Hu et al.
Introduction Previous study has demonstrated the protective effect of NID1 on myocardial infarction. This study aimed to assess the correlation between NID1 polymorphisms and the prognosis of heart failure (HF). In this study, we aimed to e...
Molecular Characterization of Two Hypertension Pedigrees Carrying Mitochondrial tRNAGln 4386T>C Mutation [0.03%]
携带线粒体tRNAGln 4386T>C突变的两个高血压家系的分子特征分析
Zhongshun Luo,Jiayu Lin,Jiazhen Ji et al.
Zhongshun Luo et al.
Objectives: To explore the relationships between mitochondrial tRNA (mt-tRNA) mutations and essential hypertension (EH), and providing the valuable information for molecular diagnosis of EH. ...
Easy-PSAP: an integrated workflow to prioritize pathogenic variants in sequence data from a single individual [0.03%]
易PSAP：一种优先处理单个个体测序数据中的致病突变的集成工作流
Marie-Sophie C Ogloblinsky,Marc B Gros-La-Faige,Daniel P Lewinsohn et al.
Marie-Sophie C Ogloblinsky et al.
Introduction Next-Generation Sequencing data analysis has become an integral part of clinical genetic diagnosis, raising the question of variant prioritization. The Population Sampling Probability (PSAP) method has been developed to tackle ...
A bibliometric analysis of GWAS on Rheumatoid Arthritis from 2002 to 2024 [0.03%]
2002至2024年GWAS在类风湿性关节炎领域的文献计量分析
Wen-Hui Wang,Ming-Hui Xia,Xin-Ru Liu et al.
Wen-Hui Wang et al.
Introduction Rheumatoid arthritis (RA) has become a serious threat to human health and quality of life worldwide. Previous studies have demonstrated that genetic factors play a crucial role in the onset and progression of RA. Due to the rap...
RNA-based next-generation sequencing approach to non-small cell lung cancer: A single center experience in Turkey [0.03%]
基于RNA的下一代测序在非小细胞肺癌中的应用：来自土耳其单中心的经验
Orhan Gorukmez,Ozlem Gorukmez,Ali Topak
Orhan Gorukmez
Introduction: Lung cancer is a global health concern. Molecular analysis of tumor tissues, especially in non-small cell lung cancers, has become an integral part of a holistic approach to the management of the disease. He...
Parental consanguinity and family history in relation to psoriasis and the role of sex: a case-control study [0.03%]
亲缘关系和家族史与银屑病的关系及性别所扮演的角色：一组以病例对照为主的实验研究
Alanood N AlKhas,Ali H Ziyab
Alanood N AlKhas
Introduction: Psoriasis is caused by an interplay between intrinsic and extrinsic factors. Parental consanguinity increases homozygosity in the genome of the offspring, which in turn increases disease risk. The associatio...
Screening for Mitochondrial tRNA Variants in 200 Patients with Systemic Lupus Erythematosus [0.03%]
系统性红斑狼疮患者中筛查线粒体tRNA变异(共200例)
Dan Xuan,Fuyong Qiang,Hui Xu et al.
Dan Xuan et al.
Introduction: Systemic lupus erythematosus (SLE) is a common autoimmune disease with unknown etiology. Recently, a growing number of evidence suggested that mitochondrial dysfunctions played active roles in the pathogenes...
Jennifer Asimit
Jennifer Asimit
A statistical testing strategy accounting for random and non-random (skewed) X-chromosome inactivation identifies lung cancer susceptibility loci among smokers [0.03%]
一种统计检验策略兼顾随机和非随机（偏斜）的X染色体失活以确定吸烟者的肺癌易感位点
Rodolphe Jantzen,Sophie Camilleri-Broët,Nicole Ezer et al.
Rodolphe Jantzen et al.
Introduction: Lung cancer is the most common cancer worldwide in mortality and the second in incidence. Epidemiological studies found a higher lung cancer risk for smoking women in comparison to men, but these sex differe...