Convergent Immune-Coagulation Programs Underlie Gastrointestinal Bleeding Risk in Portal Vein Tumor Thrombosis-Associated Hepatocellular Carcinoma and Portal Hypertension [0.03%]
门静脉癌栓相关肝细胞癌和门脉高压性胃肠出血风险下的免疫凝血程序收敛现象
Xu Rutao,Xiong Zhuxiang,Zhao Jichun et al.
Xu Rutao et al.
Background: Portal vein tumor thrombosis (PVTT) and portal hypertension are major contributors to gastrointestinal bleeding in hepatocellular carcinoma (HCC), yet the molecular programs linking vascular pathology, immune ...
Multiomics and Genomic Alteration Characterization Identifies VDAC1 as a Mitochondrial-Associated Biomarker in Pancreatic Cancer [0.03%]
多组学和基因组改变表征将VDAC1识别为胰腺癌中的线粒体相关生物标志物
Wanliang Sun,Yifei Wang,Xuxu Qiao et al.
Wanliang Sun et al.
Pancreatic ductal adenocarcinoma (PDAC) is characterized by aggressive biological behavior and limited therapeutic responsiveness. Identifying genetically and biologically interpretable biomarkers remains critical for improving molecular st...
Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges [0.03%]
Sitosterolemia的新型ABCG5和ABCG8变异：对溶血、钙调节及治疗挑战的新认识
Prashant Warang,Rashmi Dongerdiye,Pradnya Dehadrai et al.
Prashant Warang et al.
Sitosterolemia is a rare autosomal recessive lipid metabolic disorder caused by mutations in ABCG5 or ABCG8, leading to pathological accumulation of dietary plant sterols. The condition is clinically heterogeneous, presenting with xanthomas...
Case Reports
Human mutation. 2026 May 9:2026:9208468. DOI:10.1155/humu/9208468 2026
Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing [0.03%]
全外显子组测序鉴定CRYGD和OCRL基因在中国遗传性先天性白内障患者中的两个新型变异
Jianlong Zhuang,Nan Huang,Yu E Chen et al.
Jianlong Zhuang et al.
Background: Genetic variants are the leading cause of congenital cataract (CC). To date, numerous genes have been implicated in the development of CC. The objective of the present study was to report two previously unreco...
A Cuproptosis-Glycolysis Signature Predicts Prognosis and Highlights AURKA as a Therapeutic Target in ccRCC [0.03%]
铜死亡-糖酵解特征谱预测ccRCC预后并提示AURKA作为治疗靶点
Chang-Yu Ma,Ming-Xiao Zhang,Hao-Tian Tan et al.
Chang-Yu Ma et al.
Cuproptosis, a recently identified form of cell death, is closely linked to glycolysis; however, the mechanistic interplay between these processes in clear cell renal cell carcinoma (ccRCC) remains to be fully elucidated. Utilizing data fro...
Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune-Metabolic Crosstalk in Triple-Negative Breast Cancer [0.03%]
GCSH+巨噬细胞的多组学特征揭示了三阴性乳腺癌中的治疗弱点和免疫-代谢交叉谈话现象
Jiahao Ge,Ting Chen,Yuanyuan Ma et al.
Jiahao Ge et al.
Background: Tumor-associated macrophages (TAMs) are key regulators of immune homeostasis within the tumor microenvironment (TME) and play critical roles in malignant progression. However, the molecular mechanisms linking ...
FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition [0.03%]
FBXW7相关神经发育障碍：临床谱系、分子机制和肿瘤易感性
S Savasta,F F Comisi,E Fiumicelli et al.
S Savasta et al.
F-box and WD repeat domain-containing 7 (FBXW7) encodes the substrate-recognition subunit of the SCF (SKP1-CUL1-F-box) E3 ubiquitin ligase complex, where it regulates proteasome-mediated degradation of key cell cycle and developmental prote...
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES [0.03%]
BPES中FOXL2编码和非编码序列及结构变异的变体解读最大的文库
Charlotte Matton,Julie Van De Velde,Marieke De Bruyne et al.
Charlotte Matton et al.
Heterozygous FOXL2 (non)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid...
A Homozygous Frameshift Mutation in GREB1 Leads to Female Infertility [0.03%]
GREB1基因frameshift突变导致的女性不孕
Jinwei Yang,Linyan Yang,Bo Yan et al.
Jinwei Yang et al.
Primary infertility affects 15% of couples worldwide, yet many genetic causes remain unknown. Through whole-exome sequencing of a woman with primary infertility and repeated embryo implantation failure, we identified a novel homozygous fram...
Case Reports
Human mutation. 2026 May 6:2026:8849136. DOI:10.1155/humu/8849136 2026
Deubiquitination of ETV4 by USP7 Promotes NSCLC Tumorigenesis via MAPK7 Activation [0.03%]
USP7通过MAPK7激活去泛素化ETV4促进NSCLC肿瘤发生
Xue Meng,Jiaxi Zhang,Ning Zhang et al.
Xue Meng et al.
Transcriptional dysregulation in cancer is accompanied by an anabolic transcriptional response driving proliferation and metabolic adaptation. We previously found that oncogenic ETS variant transcription factor 4 (ETV4) overexpression is as...