Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients [0.03%]
ARX基因变异的细胞功能分析揭示了男性和女性神经发育障碍患者基因型与表型相关性的新见解
Rasha Faraj,Audrey Farrugia,Anna C E Hurst et al.
Rasha Faraj et al.
Neurodevelopmental disorders (NDDs) encompass a wide range of conditions often linked to genetic causes, with mutations in the X-linked ARX gene representing a recurrent contributor. ARX encodes a transcription factor critical for GABAergic...
SIRT3 Regulates HMGCS2 Deacetylation and Influences Cholangiocarcinoma Progression via the Metabolism of Ketone Bodies [0.03%]
SIRT3通过酮体代谢调节HMGCS2去乙酰化并影响胆管癌进展
Sihua Liu,Xiao You,Dongdong Wang et al.
Sihua Liu et al.
Cholangiocarcinoma (CCA) is a highly aggressive malignancy. 3-Hydroxy-3-methylglutaryl-CoA synthase 2 (HMGCS2), a mitochondrial enzyme involved in ketogenesis, has been linked to tumor progression, but its role in CCA remains unclear. HMGCS...
Integrated Radiomics Model Combining Diffusion Kurtosis Imaging and Dynamic Contrast-Enhanced MRI for Predicting TERT Promoter Mutation Status in Gliomas [0.03%]
结合扩散张量成像和动态对比增强MRI的综合影像组学模型在胶质瘤中用于预测TERT启动子突变状态
Song Gao,Shenao Zhang,Yinjiao Wang et al.
Song Gao et al.
Purpose: The purpose of this study is to investigate the value of a radiomics model based on diffusion kurtosis imaging (DKI) and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) for preoperative prediction ...
FCGR2B + Macrophages as a Critical Node Linking Ferroptosis and Immunosuppression: A Multiomics Framework for Prognosis and Therapy in High-Grade Serous Ovarian Cancer [0.03%]
补体受体FCGR2B＋巨噬细胞是连接铁死亡与免疫抑制的关键节点：用于预测和治疗高级别浆液性卵巢癌的多组学框架
Jialu Zhou,Tao Zeng,Yi Liu et al.
Jialu Zhou et al.
Background: High-grade serous ovarian cancer (HGSOC) is characterized by a complex tumor microenvironment and poor prognosis, yet the roles of specific tumor-associated macrophages (TAMs) subpopulations in driving disease...
Peripheral Immune and Metabolic Dysregulation in Migraine, Ménière's Disease, and Vestibular Migraine: A Single-Cell Atlas Study [0.03%]
偏头痛、梅尼埃病和眩晕型偏头痛的外周免疫和代谢失调：单细胞图谱研究
Mika Pan,Liyan Lu,Wenyi Song et al.
Mika Pan et al.
Background: Migraine (MI), Ménière's disease (MD), and vestibular migraine (VM) share significant clinical and pathological similarities, particularly their link to neurological dysfunction and immune cell activity, tho...
Immunomodulatory Roles and Clinical Significance of GZMM and DDX24 in Sepsis: A Multiomics Integrative Analysis With Experimental Validation [0.03%]
GZMM和DDX24在脓毒症中的免疫调节作用及临床意义：多组学整合分析与实验验证
Yi Zhang,Liang Tang,Juan Wu et al.
Yi Zhang et al.
Sepsis is a systemic inflammatory response syndrome caused by an infection featuring high morbidity and mortality due to complex mechanisms underlying immune dysfunction. In this study, based on the sepsis transcriptome profiles from the GE...
SELL Marks an Effector-Deficient CD8+ T Cell Subset That Promotes Intracerebral Hemorrhage and Responds to Rutin Therapy [0.03%]
SELL分子标记的效应子功能缺陷CD8+T细胞亚群促进脑出血并响应 rutin 治疗
Yan Huang,Haochen Xu,Congxia Bai et al.
Yan Huang et al.
Background: Intracerebral hemorrhage (ICH) is a devastating stroke subtype with high mortality and limited therapeutic options. While neuroinflammation contributes to secondary brain injury, the role of peripheral CD8+ T ...
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population [0.03%]
沙特人群中遗传性血液疾病基因突变的全面回顾
Nancy S Younis,Rahma M Alkabsh,Shahad M Nasser Alqahtani et al.
Nancy S Younis et al.
Background: Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. ...
ALOX5 Expression and Pathomics Features Reveal New Insights Into Lung Adenocarcinoma Prognosis: Model Construction and Functional Validation [0.03%]
ALOX5表达及肺腺癌病理组学特征构建并验证预后模型以揭示肺腺癌新特性及新分子标志物
Peihong Hu,Chun Huang,Xin Liu et al.
Peihong Hu et al.
Background: Arachidonic acid 5-lipoxygenase (ALOX5) is a biomarker of lung adenocarcinoma (LUAD). This research seeks to establish a prognostic model for LUAD by examining ALOX5 expression. ...
Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools [0.03%]
利用在线工具鉴定PHOX2B突变体的关键功能区域并改善错义突变的解释能力
Andy Drackley,Andrew D Skol,Casey M Rand et al.
Andy Drackley et al.
Pathogenic heterozygous variants in PHOX2B are associated with congenital central hypoventilation syndrome (CCHS), which is characterized by autonomic nervous system dysregulation severely affecting respiratory control. The interpretation o...