BioSTEM: A modern educational tool for research and innovation in the field of molecular biology and personalized medicine [0.03%]
BioSTEM：分子生物学和个性化医学研究与创新的现代教育工具
George P Patrinos,Stavroula Siamoglou,Konstantinos Lazaros et al.
George P Patrinos et al.
Personalized Medicine has the potential to transform modern healthcare by tailoring medical decisions to an individual's unique genomic profile. However, its integration into routine clinical practice is hindered by limited genomics educati...
A scRNA-seq reference contrasting living and early post-mortem human retina across diverse donor states [0.03%]
一种scRNAseq参考，对比活体和早期死亡人视网膜在不同供者状态下的差异
Luning Yang,Yiwen Tao,Qi Pan et al.
Luning Yang et al.
Background: Current human retina studies predominantly utilize post-mortem tissue, and the sample accessibility constraints make the characterization of the living human retina at single-cell resolution a challenge. Altho...
Donrich Thaldar,Diya Uberoi,Adrian Thorogood et al.
Donrich Thaldar et al.
In the field of genomics, the secure and responsible sharing of data across institutions and borders is critical for advancing research and improving healthcare. However, challenges such as inconsistent terminology, data localization requir...
miR-144-3p targeting FLRT3 in osteogenic differentiation of mandibular bone marrow mesenchymal stem cells [0.03%]
靶向FLRT3的miR-144-3p在下颌骨髓间充质干细胞成骨分化的功能和机制研究
Jingjun Tian,Chen Lv,Tao Xie et al.
Jingjun Tian et al.
Background: Fibronectin Leucine-Rich Transmembrane Protein 3 (FLRT3) plays a crucial role in craniofacial development and osteogenic differentiation, yet the regulatory mechanisms of microRNAs (miRNAs) on FLRT3 remain lar...
Integrating gut microbiome and neuroplasticity genomics in alcohol use disorder therapy [0.03%]
整合肠道微生物组和神经可塑性基因组以治疗酒精使用障碍
Ilias Koutromanos,Evangelia Legaki,Nikolas Dovrolis et al.
Ilias Koutromanos et al.
Background: Alcohol Use Disorder (AUD) is a chronic neuropsychiatric condition with substantial public health impact. The interplay between gut microbiota and neuroplasticity-related genes presents a novel approach to und...
Observational Study
Human genomics. 2025 Jul 11;19(1):78. DOI:10.1186/s40246-025-00793-y 2025
Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer [0.03%]
全表型组关联分析识别出多项与结直肠癌多基因风险评分相关的性状
Elisabeth A Rosenthal,Wei-Qi Wei,Yuan Luo et al.
Elisabeth A Rosenthal et al.
Background: Many factors, including environmental and genetic variables, contribute to Colorectal Cancer (CRC) risk. The genetic components of risk can be divided into monogenic and polygenic factors. Just as monogenic fa...
HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer [0.03%]
HerediVar和HerediClassify：简化遗传性乳腺癌和卵巢癌基因变异分类的工具
Anna-Lena Katzke,Marvin Doebel,Jan Hauke et al.
Anna-Lena Katzke et al.
Background: Multiple different evidence types as well as gene-specific variant classification guidelines need to be considered during the classification of variants, making the process complex. Therefore, tools that suppo...
Shared genetic architecture between stroke and blood lipids: a large-scale genome-wide cross-trait analysis [0.03%]
基于大规模全基因组跨国性分析的卒中与血脂水平间的共有遗传基础研究
Wenya Bai,Guilin Zhou,Huan Jiang et al.
Wenya Bai et al.
Background: Blood lipid levels are linked to stroke risk, but the genetic correlation between blood lipids and stroke is not well understood. We investigated the shared genetic architecture between blood lipids and stroke...
Identification and experimental validation of ulcerative colitis-associated hub genes through integrated WGCNA and lysosomal autophagy analysis [0.03%]
通过整合加权基因共表达网络分析和溶酶体自噬分析鉴定及实验验证溃疡性结肠炎相关核心基因
Yuanpei Zhao,Yijun Li,Qingwen Xu et al.
Yuanpei Zhao et al.
Objective: This study aims to systematically identify differentially expressed genes associated with lysosomal autophagy in ulcerative colitis (UC) and validate key candidate genes in an animal model, thereby providing no...
Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia [0.03%]
TBC1D23新致病突变在中国Pontocerebellarhypoplasia家系中的鉴定及功能分析
Kangyu Liu,Yu Chen,Yunlong Meng et al.
Kangyu Liu et al.
Background: Pontocerebellar hypoplasia type 11 (PCH11) is an autosomal recessive disorder caused by variants in TBC1D23. The molecular basis for its clinical heterogeneity remains poorly understood. Here, we identified a ...