Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC [0.03%]
结构基因组学定义了PBRM1溴结构域变体在ccRCC中的功能
Karina L Bursch,Salomão D Jorge,Audrey E Catlin et al.
Karina L Bursch et al.
Polybromo-1 (PBRM1) modulates chromatin accessibility and transcription via six bromodomains that bind acetyl-lysine residues on nuclear proteins. PBRM1 variants exist in ~40% of clear cell renal cell carcinoma (ccRCC) cases. PBRM1 loss cor...
Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families [0.03%]
全外显子组测序在未诊断的肌营养不良症中的高诊断率及伊朗族系的新见解
Nasibeh Soltani,Zahra Shahbazi,Mohammad Sadegh Fallah et al.
Nasibeh Soltani et al.
Background: Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, ...
Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family [0.03%]
涉及TBX4启动子的复杂基因组重组并以五代家族中表现不同为特征的现象
Shruti A Pande,Hiuling Chan Joiner,Przemyslaw Szafranski et al.
Shruti A Pande et al.
Variants involving TBX4 are associated with ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; also known as small patella syndrome), pulmonary arterial hypertension (PAH), and lethal lung developmental ...
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