Identification of Three Novel MAGED2 Variants Causing Antenatal Bartter Syndrome in Three Chinese Families [0.03%]
三种MAGED2新变异导致三个中国家族胎儿期巴特氏综合征的鉴定研究
Shufa Yang,Xiaojuan Li,Haili Jiang et al.
Shufa Yang et al.
Background/Objectives: We aimed to report three novel MAGED2 variants associated with transient antenatal Bartter syndrome (TABS) and to summarize the prenatal and postnatal features of MAGED2-related TABS through case analysis and literatu...
Case Reports
Genes. 2026 Apr 3;17(4):424. DOI:10.3390/genes17040424 2026
A Mini Narrative Review on Human DNA Transfer Involving Dogs and Cats and Their Role in Forensic Investigation [0.03%]
有关用于法医鉴定的人类DNA转导涉及犬和猫的微型叙述性评论摘要
Carla Bini,Alessia Trasatti,Arianna Giorgetti et al.
Carla Bini et al.
Background/objectives: The potential role of domestic animals in DNA transfer, persistence, prevalence and recovery (TPPR) warrants careful consideration in forensic contexts. This mini narrative review aims to provide an...
Population Genetic Data for 23 STR Loci of the Pech Ethnic Group in Honduras [0.03%]
洪都拉斯佩奇族23个STR基因座遗传多态性分布研究
Antonieta Zuniga,Yolly Molina,Karen Amaya et al.
Antonieta Zuniga et al.
Background: The Pech ethnic group, comprising approximately 6024 individuals in northeastern Honduras, represents one of the country's smallest indigenous communities with a rich cultural heritage extending to pre-Columbian times. Despite t...
NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory Disorders [0.03%]
NLRP12作为炎症调控因子的证据及其与自身炎症性疾病的关联性研究
Beatrice Rosa,Elisabetta Tabolacci,Roberta Pietrobono et al.
Beatrice Rosa et al.
Background: Dysregulation of the innate immune system is a key feature of autoinflammatory disorders, characterized by recurrent or chronic inflammation in the absence of high-titer autoantibodies and antigen-specific T cells. Among regulat...
The Effect of Wildfire Exposure: Neurological Outcomes, Mental Health, and Epigenetic Insights [0.03%]
野火暴露的影响:神经结果、心理健康和表观遗传学视角
Haneen Abou El Khair,Venika Toor,Lei Cao-Lei
Haneen Abou El Khair
Background/Objectives: Wildfires are increasing in frequency and intensity worldwide, leading to widespread exposure to wildfire smoke and associated environmental stressors. While the respiratory and cardiovascular effects of wildfire smok...
Gene Targeted Therapies for Neurodegenerative Disorders: Strategies and Implications in ALS and SMA [0.03%]
基因靶向治疗在神经退行性疾病中的策略及意义——聚焦肌萎缩侧索硬化症与脊髓性肌肉萎缩症
Ayse Yesbek Kaymaz,Gamze Bora-Akoğlu,Hayat Erdem Yurter et al.
Ayse Yesbek Kaymaz et al.
Advances in technology have provided a better understanding of the genetic basis of neurodegenerative disorders and their underlying molecular pathophysiology. However, treating these disorders with conventional strategies is a major challe...
Genotoxicity Assessment in Occupational Health Personnel Exposed to Cytostatic Drugs in a Peruvian Hospital [0.03%]
秘鲁医院职业健康人员接触细胞毒性药物的基因毒理学评估
Luis Miguel Serquén López,Greta Milagros Mendoza Cornejo,Viviana Brigith Torres Merino et al.
Luis Miguel Serquén López et al.
The use of cytostatic drugs for cancer treatment is currently the main weapon in the fight against cancer; however, prolonged exposure of healthcare personnel can cause adverse toxic effects. Objective: To determine the genotoxicity caused ...
Buffy Coat Enrichment Improves the Success Rate of Conventional Cytogenetics in Hypocellular Specimens: A Prospective Quality Improvement Study [0.03%]
Buffy coat富集技术可提高低细胞量标本传统细胞遗传学成功率的一项前瞻性质量改进研究
Gokce A Toruner,Nawal Imtiaz,Andrew M McCoy et al.
Gokce A Toruner et al.
Background: Specimens with low cell counts may fail to yield sufficient analyzable metaphases or are rejected for chromosomal analysis. Buffy coat enrichment (BCE) concentrates nucleated cells prior to culture; however, its impact on routin...
Can Cell-Free DNA in the Culture Medium Predict the Chromosomal Constitution of Preimplantation Embryos? Final Results from a Multicenter Study with 2539 Blastocysts [0.03%]
培养液中的游离DNA能预测囊胚的染色体组成吗?来自2539个囊胚的多中心最终结果
Luis Navarro-Sánchez,Denny Sakkas,Nilo Frantz et al.
Luis Navarro-Sánchez et al.
Background/objectives: In the last decade, non-invasive methods for aneuploidy detection have been explored. The most successful approach involves analyzing the cell-free DNA (cfDNA) released by the embryo into the cultur...
Multicenter Study
Genes. 2026 Mar 31;17(4):416. DOI:10.3390/genes17040416 2026
Lineage-Specific Sex-Biased Transcriptional Programs in Healthy Human Truncal Skin Revealed by Single-Cell Transcriptomics [0.03%]
健康人类躯干皮肤单细胞转录组揭示谱系特异性性别偏向性 transcriptional programs 翻译为:转录程序;revealed by 翻译为:揭示了
Yu Yang,Honghao Yu,Binbin Lai
Yu Yang
Background/Objectives: Sex differences influence skin physiology, immune regulation, and disease susceptibility, but the cellular organization of sex-biased transcriptional programs in healthy human skin remains incompletely defined. We aim...