Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2-skewed immune polarization [0.03%]
Mariko Takada,Miho Sashikawa-Kimura,Yusuke Ohno et al.
Mariko Takada et al.
Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water-holding functions and in initiating AD-like skin sy...
Novel genomic risk stratification model for primary high-grade malignant peripheral nerve sheath tumor (MPNST) [0.03%]
Hsin-Yi Chang,Josephine K Dermawan,William Tap et al.
Hsin-Yi Chang et al.
Risk stratification across the three main clinical subsets of malignant peripheral nerve sheath tumor (MPNST), neurofibromatosis type I (NF1-related), sporadic, and prior radiation therapy (RT), is based mainly on clinicopathologic paramete...
Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome [0.03%]
Tao Shi,Yu Huang,Xiaohuan Su et al.
Tao Shi et al.
MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non-syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in a...
Could the naked mole-rat become the new standard for studying human gut health and probiotics?† [0.03%]
Andrew C Pearson,Odei Barreñada,Miguel Angel Brieño-Enríquez
Andrew C Pearson
The naked mole-rat (NMR; Heterocephalus glaber) is a subterranean rodent native to the arid regions of the Horn of Africa. The NMR is the longest-lived rodent and is known for its distinctive physiological and social traits. This species ha...
Genomic landscape and homologous recombination deficiency in malignant germ cell tumors reveals sex-specific therapeutic opportunities [0.03%]
恶性生殖细胞肿瘤的基因组景观和同源重组缺陷显示了性别特异性的治疗机会
Boheng Xu,Jiahong Chen,Huiting Peng et al.
Boheng Xu et al.
Malignant germ cell tumors (GCTs) are relatively rare tumors with limited therapeutic options. This study examined the homologous recombination deficiency (HRD) status and genomic characteristics in 14 patients with GCT who underwent next-g...
Neutrophil extracellular traps aggravate lung injury by inducing pyroptosis of alveolar macrophages [0.03%]
中性粒细胞胞外诱捕网通过诱导肺泡巨噬细胞焦亡加重肺损伤
Junjuan Lu,Rouxi Song,Honghui Yang et al.
Junjuan Lu et al.
Neutrophil extracellular traps (NETs) contribute to chronic obstructive pulmonary disease (COPD) pathogenesis by amplifying airway inflammation. Gasdermin D (GSDMD)-mediated pyroptosis is a critical driver of COPD progression. This study pr...
Clinicopathological characteristics of patients with inoperable non-small cell lung cancer harboring circulating NRF2 pathway mutations [0.03%]
不可手术非小细胞肺癌患者中携带循环NRF2通路突变的临床病理特征分析
Jouni Härkönen,Satu Tiainen,Jouni Kujala et al.
Jouni Härkönen et al.
Lung cancer is the leading cause of global cancer-related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2-related factor 2 (NRF2) is a redox-regulated transcription factor frequently dy...
Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats [0.03%]
Fuchs角膜内皮营养不良的病理分类及其与CTG18.1扩增重复序列的关系
Hanielle Vaitinadapoulé,Daria Onitiu,Corantin Maurin et al.
Hanielle Vaitinadapoulé et al.
Late-onset Fuchs endothelial corneal dystrophy (FECD) is the most common primary disease of the corneal endothelium and the leading indication for corneal transplantation in Western countries. It is characterized by progressive accumulation...
What practicing pathologists and oncologists should know about the new computational pathology-based companion diagnostic tools [0.03%]
病理学家和肿瘤学家应该了解的基于计算病理学的新型伴随诊断工具的相关知识
Diana Montezuma,Sara P Oliveira,Inti Zlobec et al.
Diana Montezuma et al.
The integration of artificial intelligence into pathology is transforming the assessment of histological and immunohistochemical (IHC) slides, offering opportunities to reduce variability and streamline diagnostics. In practical terms, most...
Deep learning-based H&E-derived risk scores in colorectal cancer: associations with tumour morphology, biology, and predicted drug response [0.03%]
基于深度学习的结直肠癌H&E衍生风险评分与其肿瘤形态、生物学和预测药物反应的相关性
Nic G Reitsam,Xiaofeng Jiang,Junhao Liang et al.
Nic G Reitsam et al.
Over recent years, several deep learning (DL) models have been presented to predict colorectal cancer (CRC) patient survival directly from haematoxylin and eosin (H&E)-stained routine whole-slide images (WSIs). Unlike traditional studies th...