Distantly metastatic differentiated thyroid carcinoma is kinase-driven and enriched for DNA repair and DNA methylation gene alterations [0.03%]
远处转移的分化型甲状腺癌发生激酶重排且富含DNA修复及甲基化基因改变
Weimao Kong,Longnv Bao,Jianxia Hu et al.
Weimao Kong et al.
Although distant metastasis is uncommon in differentiated thyroid carcinoma (DTC), it remains the leading cause of thyroid cancer-related mortality. The genetic landscape of distantly metastatic DTC (DMDTC) has not been well characterized i...
Multinodular and vacuolating neuronal tumor: molecular genetics and DNA methylation analysis of 12 cases [0.03%]
多结节性血管细胞瘤和空泡化神经元肿瘤的分子遗传及DNA甲基化研究(12例报道)
Fang Lian,Dan-Dan Wang,Jing Gong et al.
Fang Lian et al.
Multinodular and vacuolating neuronal tumor (MVNT) was recognized as a distinct neuronal tumor entity in the revision of the 2021 World Health Organization (WHO) Classification of Tumors of the CNS. In this study, we retrospectively analyze...
Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2-skewed immune polarization [0.03%]
酸性卵磷脂酶活性过高导致鞘氨醇脂肪酸减少从而引发特应性干皮症及T辅助细胞2型偏移免疫反应
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%]
原发高级别恶性外周神经鞘瘤(MPNST)的新型基因组风险分层模型
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%]
带有听力损失和Usher综合征的MYO7A外显子剪切区变异的功能再评估
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%]
裸鼹鼠会成为研究人类肠道健康和益生菌的新标准吗？
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...