Endoplasmic reticulum stress and the unfolded protein response in lung diseases: molecular pathways and therapeutic interventions [0.03%]
肺部疾病的内质网应激和未折叠蛋白反应：分子通路及治疗干预措施
Lanlan Song,Yichen Liu,Chen Xu et al.
Lanlan Song et al.
Endoplasmic reticulum stress (ERS) occurs when the protein-folding capacity of the endoplasmic reticulum (ER) is overwhelmed, triggering the unfolded protein response (UPR) to restore homeostasis. However, severe or persistent ERS can shift...
Yukako Suzuki,Maolin Ge
Yukako Suzuki
Non-small cell lung cancer (NSCLC) remains a leading cause of cancer mortality, and many patients derive limited benefit from current systemic therapies. Until now, clinical and translational efforts have largely focused on recurrent genomi...
Tissue-level heterogeneity in FECD: Descemet's membrane phenotypes and association with TCF4 CTG18.1 expansion† [0.03%]
FECD的组织异质性：Descemet膜表型与TCF4 CTG18.1扩张的相关性
Sayo Maeno,Yoshinori Oie,Chifune Kai et al.
Sayo Maeno et al.
Late-onset Fuchs endothelial corneal dystrophy (FECD) is commonly framed as a corneal endothelial disease characterised by guttae accumulation and progressive thickening of Descemet's membrane (DM). However, clinical forms and evolutionary ...
Sangita P Patel
Sangita P Patel
Late-onset Fuchs endothelial corneal dystrophy (FECD) is characterized by distinct extracellular matrix deposits (guttae) within the basement membrane (Descemet's membrane) of the corneal endothelium. In a recent study published in The Jour...
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...