Flotillin-2 Gene Is Associated with Coronary Artery Disease in Chinese Han Population [0.03%]
FLTN2基因与中国汉族人群冠心病的相关性研究
Jun-Yi Luo,Zhen-Yan Fu,Ailifeire Maimaiti et al.
Jun-Yi Luo et al.
Background: Flotillin-2, an important protein of vesicular endocytosis, is commonly used as a marker protein for lipid microdomains. It plays an essential role in cellular cholesterol uptake and biliary cholesterol reabso...
Association Between Polymorphisms of DNA Repair Genes and Risk of Schizophrenia [0.03%]
DNA修复基因多态性与精神分裂症发病风险的关联研究
Sibel Odemis,Erdem Tuzun,Huseyin Gulec et al.
Sibel Odemis et al.
Aims: DNA repair gene polymorphisms have recently been implicated as potential pathogenic contributors of mental disorders. The aims of our study were to investigate the participation of nucleotide and base excision repai...
Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics [0.03%]
泰国北部的血红蛋白变异：流行病学、异质性和分子特征
Sitthichai Panyasai,Goonnapa Fucharoen,Supan Fucharoen
Sitthichai Panyasai
Background: There are limited data on hemoglobin (Hb) variants among peoples of northern Thailand. Hence, we determined the prevalence of Hb variants among a large cohort from this region. ...
Chromogenic Assay for Lung Cancer-Related EGFR Exon 19 Hotspot Deletion Mutations [0.03%]
肺癌EGFR exon19热点缺失突变的色谱检出法
Andy K Zhang
Andy K Zhang
Background: Epidermal growth factor receptor (EGFR) deletion mutations are associated with the development of nonsmall-cell lung cancer (NSCLC) and can serve as useful biomarkers. ...
Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population [0.03%]
KCNQ1基因多态性与维吾尔人群2型糖尿病的相关性研究
Qi Ma,Li Wang,Hua Yao et al.
Qi Ma et al.
Objective: To investigate the association between KCNQ1 gene polymorphisms and type 2 diabetes (T2D) in an admixed ethnic minority, Uyghur population, living in the Northwest region of China. ...
Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population [0.03%]
希腊-塞浦路斯人口中的胱氨酸尿分子和临床研究
Yiannis Athanasiou,Konstantinos Voskarides,Anthi Chatzikyriakidou et al.
Yiannis Athanasiou et al.
Background and aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In t...
Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings [0.03%]
社区医疗环境下癌症风险下一代检测的观念、经历及需求——早期采纳者的视角
Kathleen R Blazer,Bita Nehoray,Ilana Solomon et al.
Kathleen R Blazer et al.
Background: Advances in next-generation sequencing (NGS) technologies are driving a shift from single-gene to multigene panel testing for clinical genetic cancer risk assessment (GCRA). This study explored perceptions, ex...
Genetic Variants in Six-Transmembrane Epithelial Antigen of Prostate 4 Increase Risk of Developing Metabolic Syndrome in a Han Chinese Population [0.03%]
前列腺六跨膜上皮抗原基因多态性与汉族人代谢综合征易感性的相关研究
Yue Qi,Yaqin Yu,Yanhua Wu et al.
Yue Qi et al.
Background: Altered expression of six-transmembrane epithelial antigen of prostate 4 (STEAP4) is linked to obesity, insulin insensitivity, metabolic homeostasis, and inflammation. This study assessed STEAP4 single nucleot...
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome [0.03%]
爱沙尼亚临床诊断评分系统选中的Silver-Russell综合征和Beckwith-Wiedemann综合征患者的甲基化异常频率
Mari-Anne Vals,Maria Yakoreva,Tiina Kahre et al.
Mari-Anne Vals et al.
Aims: To study the frequency of methylation abnormalities among Estonian patients selected according to published clinical diagnostic scoring systems for Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS)...
Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2 [0.03%]
用于检测第二型肌营养不良的新分子诊断试验的开发及验证
Rea Valaperta,Fortunata Lombardi,Rosanna Cardani et al.
Rea Valaperta et al.
Background: Myotonic dystrophy (DM) is the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. Myotonic dystrophy type 2 (DM2) is c...