Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome [0.03%]
两名中国汉族Nance-Horan综合征家系中NHS突变的致病机制分析
Li Li,Jiaxi Song,Meiling Qin et al.
Li Li et al.
Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by congenital cataracts, dental anomalies, and neurodevelopmental impairments, caused by mutations in the NHS gene. In this study, two novel NHS mutations, c.3847C...
Functional Interpretation of Recurrent Genetic Variants in Hepatocellular Carcinoma: Molecular Consequences and Clinical Relevance [0.03%]
肝细胞癌中反复出现的遗传变异的功能性解读：分子后果与临床意义
Yuntao Ye,Zhulin Xu,Jiang Wang et al.
Yuntao Ye et al.
Hepatocellular carcinoma (HCC) is characterized by substantial molecular heterogeneity shaped by recurrent genetic alterations. Large-scale genomic studies have defined the mutational landscape of HCC, but the biological interpretation and ...
Single-Cell Transcriptomic Analysis Suggests That JUN May Regulate BAMBI to Promote Osteosarcoma Cell Migration and Invasion [0.03%]
单细胞转录组分析提示JUN通过调节BAMBI促进骨肉瘤细胞迁移侵袭
Ning Song,Qiang Zhang,Junwei Du et al.
Ning Song et al.
Background: Distant metastasis of osteosarcoma (OS) is one of the major factors contributing to poor patient prognosis, and its underlying mechanisms remain incompletely understood. In this study, we employed single-cell ...
Integrative Multiomics Analysis Reveals Tumor-Associated Macrophage Heterogeneity and a Prognostic Signature in Gastric Cancer [0.03%]
整合多组学分析揭示胃癌肿瘤相关巨噬细胞异质性和预后标志物
Zhaoyan Li,Ming Xu,Yuqing Huang et al.
Zhaoyan Li et al.
Gastric cancer (GC) is characterized by a complex tumor microenvironment (TME) with substantial cellular heterogeneity. Tumor-associated macrophages (TAMs) represent the most abundant immune cell population in the TME and exhibit remarkable...
Integrated Genomic and Single-Cell Analysis Reveals Heterogeneity, Prognosis, and Treatment Vulnerability in Urothelial Carcinoma [0.03%]
集成的基因组和单细胞分析揭示了尿路上皮癌的异质性、预后和治疗脆弱性
Chaozhi Tang,Yifan Liu,Tian-Long Wang et al.
Chaozhi Tang et al.
At the transcriptomic level, several molecular subtyping schemes have been established to elucidate the intrinsic heterogeneity of urothelial carcinoma and to inform prognostic assessment and therapeutic guidance. However, a unified molecul...
A Spatially Constrained Fibroblast-Myeloid Program Associates With Immune Exclusion and Poor Prognosis in Lung Adenocarcinoma [0.03%]
空间受限的成纤维细胞-髓系程序与肺癌腺癌免疫排斥和不良预后相关
Yujun Zhou,Xinyang Ren,Rongxin Li et al.
Yujun Zhou et al.
Background: Although immune checkpoint blockade (ICB) therapy has improved clinical outcomes for some patients with lung adenocarcinoma (LUAD), only a subset of cases can achieve durable benefits, and primary resistance i...
CENPA as a Genome Stability-Associated Biomarker in Hepatocellular Carcinoma: Multiomics Analysis and Experimental Validation [0.03%]
一种新的肝癌基因组稳定性相关生物标志物CENPA：多组学分析及实验验证
Haichao Shi,Litao Sun,Pengyan Zhang et al.
Haichao Shi et al.
Genomic instability is closely involved in hepatocellular carcinoma (HCC) progression, but biomarkers that reflect genome stability-related tumor biology and functional vulnerability remain incompletely defined. In this study, we performed ...
PLSCR3 Deficiency Triggers mtDNA-Driven cGAS-STING Activation to Potentiate Antitumor Immunity in Colorectal Cancer [0.03%]
PLSCR3缺乏通过mtDNA-cGAS-STING激活促进结直肠癌抗肿瘤免疫应答
Limian Ling,Jingyu Wu,Lei Bao et al.
Limian Ling et al.
Background: Immunotherapy efficacy in colorectal cancer (CRC) is largely restricted to microsatellite instability-high (MSI-H) tumors, highlighting an urgent need to overcome resistance in microsatellite-stable (MSS) CRC....
Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study [0.03%]
基于突变的临床可转化生物标志物在升主动脉瘤中的 bibliometric 研究
Fan Yang,Tan Yang,Xiaojun Xie et al.
Fan Yang et al.
Ascending aortic aneurysm is often clinically silent until rupture or acute dissection, and reliance on diameter-based thresholds leaves substantial risk heterogeneity that may be reduced by genetic variant-informed biomarkers. In plain lan...
Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples [0.03%]
中国人孤立性CVID患者CFTR和ADGRG2变异的光谱及分类：一项大规模队列研究及夫妻双方携带CFTR变异风险评估研究
Ping Yuan,Zhongkun Liang,Ling Zhou et al.
Ping Yuan et al.
Congenital absence of the vas deferens (CAVD) is a major cause of obstructive azoospermia and male infertility, with its genetic etiology primarily associated with CFTR (autosomal recessive) and ADGRG2 (X-linked) mutations. However, the gen...