ESR1 and PIK3CA Polymorphisms as Potential Genetic Susceptibility Markers for Breast Cancer Risk in Bangladeshi Women: A Case-Control Study [0.03%]
雌激素受体1和PIK3CA多态性作为乳腺癌遗传易感标志物在孟加拉国女性中的病例对照研究
Mahim Hassan Chowdhury,Faria Billal Shaolin,Nishat Tabassum Khusbu et al.
Mahim Hassan Chowdhury et al.
Breast cancer (BC) is one of the most common and deadly cancers affecting women worldwide. This study is aimed at investigating the association between BC risk and two single nucleotide polymorphisms (SNPs): ESR1 (rs2234693) and PIK3CA (rs6...
Mining Chemotherapy Resistance Related Genes in Breast Cancer to Construct a New Prognosis Prediction Model-Based on GEO Database and Real-World Study [0.03%]
基于GEO数据库和真实世界研究的乳腺癌化疗耐药相关基因挖掘及其预后预测模型构建
Zhaozhen Qiu,Xiaodong Dai,Jianfeng Zeng
Zhaozhen Qiu
Objective: The chemotherapy resistance genes in breast cancer are closely related to prognosis. This study is aimed at exploring the key genes that may be involved in chemotherapy resistance of breast cancer and establish...
Integrative Mendelian Randomization and Single-Cell Pseudotime Analysis Reveal DKK3 as a PI3K-AKT-Modulated Driver of Esophageal Squamous Cell Carcinoma [0.03%]
整合性孟德尔随机化和单细胞伪时间分析揭示DKK3是食管鳞癌PI3K-AKT调控的驱动基因
Zhanghao Huang,Tiegang Cao,You Lang Zhou et al.
Zhanghao Huang et al.
Background: Esophageal squamous cell carcinoma (ESCC) remains a highly lethal malignancy, and the molecular drivers of its progression are not fully defined. Dickkopf-3 (DKK3), a context-dependent modulator of oncogenic s...
Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype-Phenotype Correlations [0.03%]
新型ALG13变异及扩展的神经发育谱系：基因型-表型相关性
Song Su,Wandong Hu,Ying Ren et al.
Song Su et al.
Background: The ALG13 gene is implicated in congenital disorders of glycosylation (CDG) and developmental and epileptic encephalopathy (DEE), yet genotype-phenotype correlations remain incompletely understood. ...
Single-Cell and Machine Learning Analyses Identify MYDGF as an Immune-Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell Carcinoma [0.03%]
单细胞和机器学习分析识别出MYDGF作为与透明细胞肾细胞癌肿瘤微环境相关的免疫相关生物标志物
Yingkun Xu,Guandu Li,Xinxiu Ren et al.
Yingkun Xu et al.
Single-cell transcriptomics and machine learning methods are increasingly used to identify immune-related biomarkers in solid tumors, yet their combined application to microenvironment-related drivers of therapeutic resistance in clear cell...
UBTD1 Drives Ovarian Cancer Progression via Mutation-Associated Alterations, Stromal Microenvironment Remodeling, and TNF/AP-1 Signaling [0.03%]
UBTD1通过突变相关改变、间质微环境重塑和TNF/AP-1信号传导驱动卵巢癌进展
Aixin Liu,Yanxia Chen,Xian Zhao et al.
Aixin Liu et al.
Background: The ubiquitin domain-containing protein 1 (UBTD1) is involved in protein homeostasis and cell cycle regulation, and emerging evidence suggests its role in tumor biology. However, its function in ovarian cancer...
Correction to "Vimentin Regulates Alternative Polyadenylation and mTOR Signaling via ARVCF to Promote B Cell Lymphoma Progression" [0.03%]
关于“波形蛋白通过ARVCF调节替代聚腺苷酸化和mTOR信号促进B细胞淋巴瘤进展”的更正通知
[This corrects the article DOI: 10.1155/humu/1463685.]. Copyright © 2026 . Human Mutation published by John Wiley & Sons Ltd.
Published Erratum
Human mutation. 2026 Jul 21:2026:9814094. DOI:10.1155/humu/9814094 2026
From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases [0.03%]
从变异解读到生物标志物转化：遗传性神经肌肉病的多组学整合研究
Suming Zhang,Xiaoling Lang,Lunxin Liu
Suming Zhang
Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi-omics technologies ...
Multiomics Analysis Reveals CTHRC1+ CAFs Drive Immunosuppressive Niches and Predict Immunotherapy Resistance in Gastric Cancer [0.03%]
多组学分析揭示CTHRC1+Caf驱动免疫抑制生态位并预测胃癌免疫治疗抵抗
Yingxin Wu,Ling-Han Tang,Ping Li et al.
Yingxin Wu et al.
Cancer-associated fibroblasts (CAFs) orchestrate immune-excluded tumor microenvironment (TME), but the CAF heterogeneity remains incompletely understood in gastric cancer (GC). In this study, we integrated multicohort single-cell RNA sequen...
Rare Variants in Purinergic P2X Receptor Genes (P2RX4, P2RX5, P2RX7) in Individuals With Autism Spectrum Disorder: An Exploratory Study [0.03%]
自闭症谱系障碍患者中嘌呤能P2X受体基因（P2RX4，P2RX5，P2RX7）罕见变异的探索性研究
Gül Ünsel-Bolat,Hilmi Bolat
Gül Ünsel-Bolat
Background: Purinergic P2X receptors (P2RX) play key roles in neuroinflammatory processes through ATP-gated ion channel signaling. Dysregulation of P2RX receptor activity has been implicated in maternal immune activation,...