Tissue MicroRNAs in Arrhythmogenic Cardiomyopathy: A Systematic Review of Studies in Human Myocardium and Animal Models with Implications for Post-Mortem Molecular Diagnostics [0.03%]
心律失常性心肌病的组织微小RNA：人体心肌和动物模型研究的系统评价及其对死后分子诊断的意义
Gabriele Napoletano,Alessandro Ghamlouch,Maura Racciatti et al.
Gabriele Napoletano et al.
Arrhythmogenic cardiomyopathy (ACM/ARVC) is an inherited myocardial disease characterized by progressive fibro-fatty replacement, ventricular arrhythmias, and an increased risk of sudden cardiac death. In addition to mutations in desmosomal...
Genetic Variants and Dental Caries Susceptibility: An Umbrella Review and Multilevel Meta-Analysis [0.03%]
遗传变异与龋易感性的关联：伞式 review 和多水平 meta-分析
Halah Khalifa,Lina Bahanan,Ranna Yousif Johansson et al.
Halah Khalifa et al.
Objective: This umbrella review aimed to evaluate the strength and consistency of evidence linking genetic variants to dental caries susceptibility. Methods: An umbrella review was conducted, following PRISMA 2020 guidelines. A comprehensiv...
Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support [0.03%]
生成式AI和语言模型在人类遗传学和健康领域：从变异解读到临床决策支持
Yael Pinchevsky Itan,Yuval Itan
Yael Pinchevsky Itan
Generative artificial intelligence (AI) is transforming biological and medical research and data analysis. Beyond analyzing existing information, these models can learn complex patterns and generate new data such as realistic protein sequen...
Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood [0.03%]
白 Sutton 综合征的家族性病例是由 POGZ 致病变异 p.Arg508* 引起：从儿童期到成年期的家族内变异表现形式不同
Massimiliano Chetta,Simone Lattarulo,Michele Stasi et al.
Massimiliano Chetta et al.
Background/Objectives: White-Sutton syndrome (WHSUS; OMIM 616364) is a rare neurodevelopmental disorder caused by pathogenic variants in the POGZ gene and characterized by developmental delay, intellectual disability, speech impairment, aut...
Case Reports
Genes. 2026 Jun 21;17(6):722. DOI:10.3390/genes17060722 2026
Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia [0.03%]
遗传因素对LDL胆固醇水平的影响：非单基因高胆固醇血症的多基因风险评分和Lp（a）的作用
Martina Ferrandino,Ylenia Cerrato,Gabriella Iannuzzo et al.
Martina Ferrandino et al.
High levels of low-density lipoprotein cholesterol (LDL-c) have been recognized as the main causal factor of atherosclerotic cardiovascular disease (ASCVD) and are influenced by both genetic and environmental factors. Among genetic determin...
THBS1 as a Key Regulator of Myoblasts: Validation of Its Inhibitory Roles in Skeletal Muscle Development [0.03%]
THBS1作为调控肌管细胞分化和骨骼肌生长的关键因子及其作用机制的研究
Ji Qi,Xinlin Jin,Jing Wang et al.
Ji Qi et al.
Background: Thromboxane B2 Synthase 1 (THBS1), also known as TSP-1, is a multifunctional glycoprotein involved in various cellular processes that plays a crucial role in skeletal muscle development and repair. It acts as ...
DNA Yield and Degradation in Skeletal Remains from Two Slovenian Second World War Mass Graves: A Comparative Study of Different Bone Types [0.03%]
Slovenia第二次世界大战集体墓地中不同骨骼类型中DNA的提取和降解：比较研究
Irena Zupanič Pajnič,Tomaž Zupanc,Eva Podovšovnik
Irena Zupanič Pajnič
Background: The genetic identification of Second World War (WWII) victims in Slovenia is a significant forensic challenge due to the varying taphonomic conditions of mass graves and the high degradation of skeletal remains. While recent stu...
Comparative Study
Genes. 2026 Jun 21;17(6):719. DOI:10.3390/genes17060719 2026
Genetic Polymorphisms as Key Modulators of Cardiovascular Risk from Endocrine-Disrupting Chemicals [0.03%]
内分泌干扰素的心血管风险遗传多态性关键调节因子
Mariangela Palazzo,Francesca Gorini,Ludovica Simonini et al.
Mariangela Palazzo et al.
Environmental exposure to persistent and non-persistent endocrine-disrupting chemicals (EDCs), including per- and polyfluoroalkyl substances (PFAS), polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), polycyclic aromat...
Preliminary Evidence for Sex Differences in CYP2C19 Metabolic Capacity During Psychotropic Drug Treatment [0.03%]
精神药物治疗期间CYP2C19代谢能力的性别差异的初步证据
Janina Eiberger,Heike Weber,Andreas Reif et al.
Janina Eiberger et al.
Background/Objectives: Sex-specific differences in the pharmacokinetics of psychotropic drugs are gaining increasing clinical relevance, but only limited data are currently available on sex-specific effects within genetically defined metabo...
Synaptic and Circuit Mechanisms Shaping Neurodevelopmental and Psychiatric Outcomes Associated with 16p11.2 Copy Number Variation [0.03%]
与16p11. 2拷贝数变异相关的神经发育和精神疾病表型的突触和回路机制
Alžbeta Námešná,Jasmine Pickford,Jeremy Hall et al.
Alžbeta Námešná et al.
Copy number variants (CNVs) are genomic rearrangements that carry a substantial risk for neurodevelopmental and neuropsychiatric disorders. Among these, recurrent deletions and duplications at the 16p11.2 locus are robustly associated with ...