Functional validation of spliceogenic COL4A3 and COL4A4 variants by minigene assays refines molecular diagnosis of Alport syndrome [0.03%]
通过最小基因试验验证Alport综合征致病COL4A3和COL4A4变异的剪接功能以完善分子诊断
Lina Wang,Zhi Wang,Yan Zhao et al.
Lina Wang et al.
Background: Alport syndrome (AS) is a hereditary progressive kidney disease caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Aberrant pre-mRNA splicing represents a major disease mechanism in AS, and...
Lens tissue transcriptome analysis in patients with total congenital cataract [0.03%]
先天性全白内障患者晶状体组织的转录组分析
Xiaolei Lin,Huiyu Chen,Xin Liu et al.
Xiaolei Lin et al.
Background: Total congenital cataract (TCC), a leading cause of childhood visual impairment. We analyzed transcriptome profiles of lens epithelial cells (LECs) and lens fiber cells (LFCs) in pediatric patients with TCC to...
The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024) [0.03%]
偶发性男性不育的基因洞察力：一项关于WES和WGS研究（2014-2024）的系统回顾
Hoda Zahi,Fatima Sfifou,Meriem Slaoui et al.
Hoda Zahi et al.
Male infertility is a complex and heterogeneous disorder. It has a significant genetic component, although some cases remain idiopathic. Next-generation sequencing, particularly whole-exome (WES) and whole-genome sequencing (WGS) has become...
Re: "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review" [0.03%]
有关COL1A1基因剪接改变的移码突变导致成骨不全症Ⅰ型：四代汉族家系的分子分析及文献回顾
Raymond Dalgleish
Raymond Dalgleish
A paper entitled "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review" was recently published in this...
The diabetes exposome: interplay of environmental and genetic determinants in diabetes [0.03%]
糖尿病暴露组学：环境因素和遗传易感性在糖尿病中的交互作用
Bushra Zia,Juma AlKaabi,Adnan Agha et al.
Bushra Zia et al.
Diabetes mellitus arises from complex interactions between biological susceptibility and diverse environmental influences that extend beyond traditional "genes versus lifestyle" models. The exposome is defined as the aggregate of non-geneti...
Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancer [0.03%]
全外显子组测序揭示了一种遗传性乳腺癌的拉丁美洲人 understrepresented 部落中存在的多种种系变异谱型
Sarai Morales-González,Ricardo Fernández-Ramires,Hugo Carlos Bolzon Gonzalez et al.
Sarai Morales-González et al.
Background: Hereditary breast cancer (BC) accounts for a significant proportion of BC cases, yet germline variant interpretation remains limited in underrepresented populations such as those from Latin America. Most avail...
Differences in miRNAs profile in pregnant women with preeclampsia compared with healthy pregnant women [0.03%]
子痫前期孕妇与健康孕妇的miRNAs谱差异分析
Vorapong Phupong,Natthaya Chuaypen,Supawadee Mingmongkol et al.
Vorapong Phupong et al.
Preeclampsia is a hypertensive and multisystemic disorder characterized by mild to severe hypertension during the second half of pregnancy. Circulating microribonucleic acids (miRNAs) have been identified as potential biomarkers for its dia...
Machine learning-driven identification of circulating biomarkers and therapeutic compounds for diabetic retinopathy [0.03%]
基于机器学习的糖尿病视网膜病变循环生物标志物和治疗化合物识别
Di Chen,Guanrong Wu,Shuoxin Liao et al.
Di Chen et al.
Background: Diabetic retinopathy (DR) is a major cause of severe visual impairment, where early diagnosis and intervention are crucial to prevent irreversible damage. Given that obtaining biomarkers from ocular fluids is ...
Transcriptome and plasma proteome analyses identify susceptibility genes and proteins for alcohol-related hepatocellular carcinoma [0.03%]
转录组和血浆蛋白质组分析鉴定出酒精相关肝细胞癌的易感基因和蛋白质
Zhishuang Li,Menghan Liu,Jiacheng Li et al.
Zhishuang Li et al.
Background: Genome-wide association studies (GWAS) have identified loci associated with alcohol-related hepatocellular carcinoma (ALD-HCC); however, most risk variants lie in noncoding regions and the downstream regulator...
MiR-4788 promotes NSCLC progression by targeting DLG5 to enhance mitochondrial function [0.03%]
MiR-4788通过靶向DLG5增强线粒体功能从而促进NSCLC进展
Yanting You,Qifeng Peng,Xiaomei Chen et al.
Yanting You et al.
Background/objectives: Non-small cell lung cancer (NSCLC) is a leading cause of cancer-related deaths worldwide. Although microRNAs (miRNAs) are known to play crucial roles in tumor progression, the biological function an...