Type B Aortic Dissection Following Abdominal Aortic Aneurysm Repair in Loeys-Dietz Syndrome: A Novel TGFBR1 Variant [0.03%]
LOEYS-DIETZ综合征术后发生B型主动脉夹层的一种新的TGFBR1变异体
Yuchong Zhang,Shouji Qiu,Chengkai Hu et al.
Yuchong Zhang et al.
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by aggressive aortic pathology, primarily caused by pathogenic variants in genes such as TGFBR1. We report a 44-year-old female with a known LDS di...
Case Reports
Human mutation. 2026 May 18:2026:2951304. DOI:10.1155/humu/2951304 2026
Frequent Detection of KRAS-G12C and PIK3CA-Q546K Mutations in MAP Tumors Highlights their Role in MUTYH Variants of Uncertain Significance Reclassification [0.03%]
MAP肿瘤中KRAS-G12C和PIK3CA-Q546K突变的频繁检测强调了它们在不确定意义MUTYH变异重新分类中的作用
Ana Beatriz Deleame Medeiros,Vanessa Nascimento Kozak,Clarissa Gondim Picanço-Albuquerque et al.
Ana Beatriz Deleame Medeiros et al.
Biallelic pathogenic variants in MUTYH cause MUTYH-associated polyposis (MAP), a rare recessive colorectal cancer (CRC) predisposition syndrome characterized by somatic G:C > T:A transversions. The hotspot somatic mutations KRAS-G12C and PI...
Integrative Genomic and Functional Analysis Reveals NF1 Loss as a Modifier of DNA Damage and Replication Stress Responses in Ovarian Cancer [0.03%]
整合基因组和功能分析揭示NF1丢失作为卵巢癌DNA损伤和复制压力反应修饰因子的作用
Shan He,Chengfeng Liu,Zhenyi Li et al.
Shan He et al.
Neurofibromin 1 (NF1) is a tumor suppressor gene frequently altered across diverse cancer types, yet its biological significance in ovarian cancer remains incompletely characterized. Here, we integrated cohort-scale somatic mutation profili...
Decoding the Sphingolipid Landscape of Clear Cell Renal Cell Carcinoma: A Single-Cell-Guided Prognostic Model Built With 101 Machine Learning [0.03%]
单细胞指导的肾透明细胞癌鞘脂预后模型机器学习建立及景观解析（英文）
Jinbang Huang,Shunsheng Wang,Yaojun Zhou et al.
Jinbang Huang et al.
Background: Clear cell renal cell carcinoma (ccRCC) is the most common histological subtype of kidney cancer and shows marked heterogeneity in progression, metastasis, and therapeutic response. Sphingolipid metabolism has...
Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China [0.03%]
中国ALLAN-HERNDON-DUDLEY综合征SLC16A2基因新突变的研究
Wei Li,Zijia Sun,Xiao Wu et al.
Wei Li et al.
Objective: This study is aimed at investigating the genetic defects and clinical features of Chinese children with SLC16A2 variants and at exploring the effects of mutant MCT8 on protein expression and subcellular localiz...
MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level [0.03%]
用于识别低 mosaic 甲基化水平林奇综合征患者 MLH1 家族性表观基因组筛查需要高度灵敏的试验
Cédric Facon,Catherine Vermaut,Lucie Delattre et al.
Cédric Facon et al.
Constitutional epimutations of the MLH1 gene are an alternative cause of Lynch syndrome, in which inactivation of an allele of a mismatch repair (MMR) gene results from MLH1 promoter methylation, rather than a pathogenic genetic variant. Th...
Experimental Validation and Bioinformatics Analysis Elucidate the Role of MTDH-Mediated PTEN Ubiquitination and Degradation in Podocyte Injury in Diabetic Kidney Disease [0.03%]
实验验证和生物信息学分析阐明MTDH介导的PTEN泛素化降解在糖尿病肾脏病系膜细胞损伤中的作用
Zerong Zheng,Danping Tao,Wenting Wu et al.
Zerong Zheng et al.
Diabetic nephropathy (DN) stands as a primary contributor to end-stage renal disease. Podocyte injury is a key factor underlying proteinuria in DN. Metadherin (MTDH) participates in podocyte apoptosis and promotes renal tubular injury in DN...
Cross-Cohort Transcriptomic Integration Identifies IFIT2 as a Translational Diagnostic Biomarker and Functional Driver of Inflammation-Linked Tubular Injury in Chronic Kidney Disease [0.03%]
横断面转录组整合鉴定出IFIT2作为慢性肾脏疾病炎症相关肾小管损伤的诊断生物标志物和功能驱动因子
Xiaoling Zhang,Xueyan Chen,Ya Yang et al.
Xiaoling Zhang et al.
Chronic kidney disease (CKD) is a major global health burden characterized by progressive loss of renal function, persistent inflammation, and tubular epithelial injury, yet reproducible diagnostic biomarkers that also have functional relev...
The miR-146a/ IGSF11 Axis Potentially Mediates the Protective Effect of Dexmedetomidine Against Cigarette Smoke-Induced Chronic Obstructive Pulmonary Disease [0.03%]
miR-146a/IGSF11轴可能介导了 dexmedetomidine 对烟草烟雾诱发的慢性阻塞性肺疾病的保护作用
Xiao Chen,Dan Wang,Jing Du et al.
Xiao Chen et al.
Background: This study comprehensively examined the mechanism of the roles of dexmedetomidine (Dex) and miR-146a in chronic obstructive pulmonary disease (COPD). ...
Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population [0.03%]
加拿大多元民族人群中先天性静止夜盲症的基因型景观拓展
Jennifer Ling,Mustansir Pindwarawala,Cheryl Y Gregory-Evans et al.
Jennifer Ling et al.
Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a ra...