From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI Integration [0.03%]
基于多组学证据链和可解释AI的非小细胞肺癌免疫治疗抵抗变异位点到生物标志物转化研究
Yiqing Jiang,Na Wang,Qin Zeng et al.
Yiqing Jiang et al.
Immune checkpoint inhibitors have become integral to the management of non-small cell lung cancer (NSCLC), yet both primary and acquired resistance remain frequent and are only partially captured by routine biomarkers such as programmed dea...
NDUFA4 Deletion Upregulates VDAC1 to Promote Mitochondrial Damage, Endoplasmic Reticulum Expansion, and Neuronal Apoptosis [0.03%]
NDUFA4缺失通过上调VDAC1促进线粒体损伤、内质网扩张和神经元凋亡
Lushan Li,Fang Fu,Ru Li et al.
Lushan Li et al.
Background: Dandy-Walker malformation (DWM) is a rare congenital brain defect whose mechanism is still not fully understood. Genetic studies have suggested that NADH Dehydrogenase 1 alpha Subcomplex 4 (NDUFA4) may be asso...
A New Wnt1 Mutant Rat Model of Osteogenesis Imperfecta and Its Application in AAV9-Mediated Gene Therapy [0.03%]
一种新的Wnt1突变大鼠成骨不全模型及其在AAV9介导的基因治疗中的应用
Shan Li,Xiumin Chen,Yixuan Cao et al.
Shan Li et al.
Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous bone disorder, with more than 20 genes contributing to OI development. Previously, we identified WNT1 c.620G > A (p.Arg207His) mutation among Chinese patients with a...
Causal Mediation of Immune Cells and Fatty Acids in Coronary Atherosclerosis: Insights From Mendelian Randomization Analysis [0.03%]
基于孟德尔随机化分析的心脏免疫细胞和脂肪酸在冠状动脉粥样硬化中的因果中介作用
Yong Zhang,Jia Xu,Zhihao Deng et al.
Yong Zhang et al.
Observational studies have suggested a link between total fatty acid levels and the development of coronary atherosclerosis. While the involvement of immune cells in the pathogenesis of this condition is well-established, the precise causal...
TRMT10A-Related Neurodevelopmental Disorder Without Metabolic Findings [0.03%]
无代谢表型的TRMT10A相关神经发育障碍
Döndü Ülker Üstebay,İrem Aksu Şahin,Sefer Üstebay et al.
Döndü Ülker Üstebay et al.
TRMT10A is a tRNA methyltransferase gene associated with a rare autosomal recessive disorder characterized by microcephaly, intellectual disability, epilepsy, short stature, and abnormalities in glucose metabolism. Although an increasing nu...
Case Reports
Human mutation. 2026 May 22:2026:8058409. DOI:10.1155/humu/8058409 2026
ENPP2 Dysregulation Defines a Candidate Biomarker Axis Coupling Tumor-Intrinsic cAMP Signaling to Macrophage Polarization in Hepatocellular Carcinoma [0.03%]
ENPP2调控定义了肝细胞癌瘤内cAMP信号与巨噬细胞极化偶联的候选生物标志物轴
Shiyi Chen,Jinli Zheng,Jianwu Long et al.
Shiyi Chen et al.
Hepatocellular carcinoma (HCC) shows substantial biological heterogeneity and commonly develops within an immunosuppressive microenvironment. Tumor-associated macrophages (TAMs), particularly M2-skewed subsets, are repeatedly associated wit...
Multiomics Identification of Radioresistance-Associated Biomarkers and Prognostic Model Construction in Rectal Cancer [0.03%]
直肠癌放疗抵抗相关生物标志物的多组学鉴定及预后模型构建
Zongxueni Deng,Caiyan Lu,Zhenxin Wang
Zongxueni Deng
Background: Radiotherapy remains a cornerstone in the local management of rectal cancer (RC); however, resistance to radiation significantly compromises therapeutic efficacy and adversely affects patient prognosis. Identi...
Bioinformatics Combined With Biological Experiments to Explore the Promotion of Lung Metastasis by CCL18 in the Immune Microenvironment of Colorectal Cancer [0.03%]
结合生物实验探索免疫微环境中CCL18促进结直肠癌肺转移的生物信息学研究
Qingcheng Xia,Shuting Yin,Jiping Chen et al.
Qingcheng Xia et al.
Background: Colorectal cancer (CRC) is one of the most prevalent malignant neoplasms. Tumor metastasis represents a significant contributor to unfavorable prognosis, and lung metastasis is the most common extra-abdominal ...
A Mitoxyperilysis-Related Single-Cell and Machine-Learning Framework Defines an Immune-Cold Melanoma Phenotype and a Robust Prognostic Signature [0.03%]
基于单细胞和机器学习的线粒体氧化损伤相关分析框架确定了免疫“冷”黑色素瘤表型及预后标志物
Yuze Zhou,Jiahong Fang,Lujing Fei et al.
Yuze Zhou et al.
Mitoxyperilysis is a mitochondria-dependent membrane lysis process driven by innate immune and metabolic cues, yet its clinical relevance in melanoma remains unclear. We analyzed single-cell RNA-seq data (GSE215120) to quantify a mitoxyperi...
Bifidobacterium breve Promotes the Pathogenesis of IBS by Downregulating the Expression of Ferroptosis-Related Molecule ERBB1: A Mendelian Randomization Mediation Analysis [0.03%]
双歧杆菌通过下调铁死亡相关分子ERBB1的表达促进肠易激综合征发病：一种孟德尔随机化中介分析方法
Lian Mo,Yue Wu,Yan Zhou et al.
Lian Mo et al.
Objective: Although gut microbiota dysbiosis has been associated with irritable bowel syndrome (IBS), the specific roles of individual bacterial strains in the pathogenesis of IBS remain incompletely elucidated. Additiona...