Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases [0.03%]
染色体22q11.2微重复综合征：文献回顾及12例新病例分析
Maria Bisba,Eirini Louizou,Spiros Vittas
Maria Bisba
Background/objectives: 22q11.2 microduplication syndrome is a rare genetic disorder characterized by the presence of one or two additional copies of a segment within the 22q11.2 region of chromosome 22. While much of the ...
Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype-Phenotype Correlations in a Romanian Cohort [0.03%]
向I型神经纤维瘤病更准确的诊断迈进：罗马尼亚队列临床和分子数据的双层次分析以及探索性基因型表型相关性研究
Lăcrămioara Ionela Butnariu,Ecaterina Grigore,Thomas Gabriel Schreiner et al.
Lăcrămioara Ionela Butnariu et al.
Background/objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in the NF1 gene, characterized by high phenotypic variability. ...
Comparative Assessment of Automated and Manual DNA Extraction Methods for the Genetic Analysis of Degraded Bone Samples [0.03%]
自动和手动DNA提取方法在退化骨样品遗传分析中的比较评估
Christina Amory,Walther Parson
Christina Amory
Background: Efficient DNA extraction from degraded skeletal remains is essential for forensic and ancient DNA analysis. The main aim of this study was to compare the performance of an automated DNA extraction system with a manual DNA extrac...
Comparative Study
Genes. 2026 Jul 22;17(7):842. DOI:10.3390/genes17070842 2026
Macrophage-Centered Integration of Single-Cell and Bulk Transcriptomic Data Identifies CCL3, CCL4, and JUNB as Inflammatory Regulatory Signatures in Ulcerative Colitis [0.03%]
基于单细胞和批量转录组数据的巨噬细胞整合分析确定了溃疡性结肠炎中的三种炎症调节标志物CCL3，CCL4和JUNB
Haoyang Meng,Yongliang Chen,Yongchun Chai et al.
Haoyang Meng et al.
Objectives: This study aimed to identify and characterize macrophage-associated inflammatory regulatory signatures in ulcerative colitis (UC) by integrating bulk and single-cell transcriptomic data, and to explore their p...
Multi-Omics Integration Improves Polygenic Risk Prediction for Lipid Traits: A Multi-Ancestry Study in UK Biobank [0.03%]
多组学整合可改善UK Biobank多祖先队列中脂质性状的多基因风险预测能力
Nayang Shan,Yafang Qiu,Lin Hou et al.
Nayang Shan et al.
Background: Polygenic risk scores (PRS) have proven valuable for disease risk prediction, but their predictive utility often remains limited because human traits result from complex interactions between environmental and genetic factors. Bl...
Report of Multilocus Inherited Neoplasia Alleles Syndrome in a Chilean Oncology Institute: New Combinations and Genetic Landscape [0.03%]
智利一家肿瘤学研究所的多基因位点遗传性癌症综合征病例报告：新组合和遗传谱系
Francisca Sepúlveda Bustos,Fernanda Martin Merlez,Danitza Campos Jadrijevic et al.
Francisca Sepúlveda Bustos et al.
Background/Objectives: Multilocus Inherited Neoplasia Alleles Syndrome (MINAS) is defined by the presence of germline pathogenic or likely pathogenic variants in two or more distinct cancer susceptibility genes (CSGs) in the same individual...
Prime Editing-Based Functional Characterization Supports a Likely Pathogenic Interpretation of NF1 c.6394T>C (p.Ser2132Pro) [0.03%]
基于prime编辑的功能表征支持NF1 c.6394T>C（p.Ser2132Pro）的致病性解释
Jiayu Wu,Guangyu Li,Song Liu et al.
Jiayu Wu et al.
Background/Objectives: NF1 encodes neurofibromin, a RAS-GTPase-activating protein (GAP), and heterozygous loss-of-function variants cause neurofibromatosis type 1. Missense variants outside the GAP-related domain (GRD) are difficult to clas...
Transcriptome Dynamics of Terminal Buds During Flower Bud Morphogenesis in Blueberry [0.03%]
蓝莓花芽形态发生的休眠 terminal buds 中 transcriptome 的动态变化
Xingyu Lu,Dongyu Sun,Yinyan Yang et al.
Xingyu Lu et al.
Background/Objectives: Flower bud morphogenesis is a critical developmental phase during which blueberry transitions from vegetative to reproductive growth, yet the transcriptome dynamics and regulatory networks within buds during this proc...
Diabetic Hyperglycemia Induces Region-Specific Transcriptomic Remodeling in the Cochlea [0.03%]
糖尿病性高血糖引起耳蜗转录组重塑具有区域特异性
Ting-Yu Chang,Cheng-Tien Wu,Fong-Ling Chung et al.
Ting-Yu Chang et al.
Background/objectives: Diabetes mellitus is associated with sensorineural hearing loss, but the cochlear molecular alterations related to this complication remain unclear. This pilot study aimed to characterize auditory f...
Phenotypic Changes and Physiological Genetic Responses of Oryza sativa L. Roots Under Stress of Nanoplastics (NPs) and Cadmium (Cd) in Single and Combination Forms [0.03%]
单质和复合纳米塑料及镉胁迫下水稻根系的表型与生理遗传响应分析
Haitao Liu,Hui Wang,Ling Liu et al.
Haitao Liu et al.
Background/Objectives: Both NPs and Cd alone exert adverse effects on plant growth by disrupting physiological processes and gene expression. However, the mechanisms underlying their combined effects on plant genetic responses remain incomp...