A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease [0.03%]
精准医学在儿科先天性心脏病患者GATA4基因变异解释中的应用
Catherine A Forbes,Nicole C Shaw,Kevin G Chen et al.
Catherine A Forbes et al.
Background: Patients with congenital heart disease are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the ove...
Prioritizing missense mutations via a deep learning phosphorylation prediction model [0.03%]
基于深度学习磷酸化位点预测模型的错义突变优先级分类研究
Yue Xu,Yuan Zhou,Kun Li et al.
Yue Xu et al.
Asta Försti,Beiping Miao,Abhishek Kumar et al.
Asta Försti et al.
Background: Family history of colorectal cancer (CRC) and multiple primary CRCs in a single person may indicate inherited CRC predisposition. Methods: ...
Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice [0.03%]
CFAP57基因突变导致人和小鼠MYH10和IFT88定位异常及鞭毛生成障碍
Yongjie Chen,Lin Li,Ranran Meng et al.
Yongjie Chen et al.
Flagellogenesis in mammalian sperm is essential for sperm motility and successful egg fertilization. Multiple morphological abnormalities of the sperm flagella (MMAF) represent a condition characterized by various structural defects in the ...
Strategic insights into pharmacogenomics coverage: a theory-informed SWOT analysis of UAE insurance stakeholders' perspectives [0.03%]
基于理论的SWOT分析：从阿联酋保险利益相关者的视角探讨药物基因组学覆盖率的战略见解
Maram O Abbas,Azhar T Rahma,Iffat Elbarazi et al.
Maram O Abbas et al.
Background: Pharmacogenomic (PGx) testing improves treatment outcomes by tailoring therapy to a patient's genetic profile. However, PGx implementation faces global challenges, including costs, reimbursement, and regulatio...
Distinct pathogenic mechanisms underlying two protein C variants (p.Arg211Gln and p.Val367Met) in a thrombophilic family: integrated functional and structural analyses [0.03%]
蛋白C两种变异体（p.Arg211Gln和p.Val367Met）在一种血栓形成倾向家庭中的不同发病机制：功能及结构综合分析
Huayang Zhang,Chong Wang,Huiqin Jiang et al.
Huayang Zhang et al.
Background: Hereditary protein C deficiency (PCD) increases thrombotic risk, but the molecular mechanisms of distinct missense variants remain incompletely defined. Two siblings from a family with recurrent deep vein thro...
IGF2BP3-STAT3-METTL3 axis promotes malignant progression in hepatocellular carcinoma (HCC) [0.03%]
IGF2BP3-STAT3-METTL3轴促进肝细胞癌的恶性进展
Yang Xu,Yu Cao,Jingbo Yang et al.
Yang Xu et al.
Background: Hepatocellular carcinoma (HCC) is often diagnosed in the late stage, with limited effectiveness of traditional treatments and a low overall survival rate. The underlying molecular mechanisms of HCC require fur...
Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees [0.03%]
全基因组测序鉴定出并指家系中的HOXD13变异
Yi-Feng Xu,Jing Zhang,Tian-Ying Wei et al.
Yi-Feng Xu et al.
Background: Syndactyly demonstrates high genetic heterogeneity, with many cases lacking molecular diagnosis despite known HOXD13 involvement, suggesting conventional methods may miss a sub-class of variants. ...
Influence of genetic variants and omega-3 fatty acids on acute myocardial infarction: findings from a prospective cohort study [0.03%]
来自前瞻性队列研究的遗传变异和ω-3脂肪酸对急性心肌梗死的影响发现
Haozhang Huang,Xiaozhao Lu,Sau Van Nguyen et al.
Haozhang Huang et al.
Background: Epidemiological studies have indicated that elevated levels of omega-3 fatty acids may reduce the risk of acute myocardial infarction (AMI). In contrast, genetic studies and randomized controlled trials have n...