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...
Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale [0.03%]
应用基因组学预后量表评估遗传性乳腺癌、卵巢癌及林奇综合征高危对象肿瘤遗传咨询的疗效和结局
Elena Maccaroni,Rebecca Chiariotti,Riccardo Giampieri et al.
Elena Maccaroni et al.
Background: Validated tools assessing oncological genetic counseling (OGC) quality are lacking. Methods: We assessed OCG effectiveness ...
GGPS1 Promoter Variant (rs3806394) Is Associated With Larger Simple Renal Cysts via Reduced GGPPS Expression [0.03%]
GGPS1启动子多态性（rs3806394）通过减少GGPPS表达与单纯性肾囊肿增大相关
Kai Wang,Tianzhen Tang,Tao Xu et al.
Kai Wang et al.
Objective: We are aimed at investigating the association between the size of simple renal cyst (SRC) and the expression of geranylgeranyl pyrophosphate synthase (GGPPS), which can induce renal cyst formation after its del...
Assessment of In-Frame Indel Variants in an Unsolved Cohort of Inherited Retinal Diseases Using Machine Learning [0.03%]
应用机器学习评估遗传性视网膜疾病未解群体中框内缩放变异
David E Rauch,Meng Wang,Muhammad Jafar Hussain Hafiz et al.
David E Rauch et al.
The standard for in silico pathogenicity prediction of in-frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML...
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics [0.03%]
ATP7B mRNA在鼻咽拭子样本中的分析可提高威尔森病分子遗传学诊断率
Lenka Steiner Mrázová,Alena Vrbacká,Filip Majer et al.
Lenka Steiner Mrázová et al.
Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by bi-allelic pathogenic variants in the ATPase copper transporting beta gene (ATP7B). Results of standard genetic diagnostics remain inconclusive in 3%-20% o...
In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases [0.03%]
CHIP组蛋白脱乙酰酶互作域突变导致罕见病患者的先天性心血管畸形：计算机分析研究
Apolonia Novillo,Marta Ysbert,Rocío Brea et al.
Apolonia Novillo et al.
Chromodomain-helicase-DNA-binding protein 4 (CHD4) is a critical ATP-dependent chromatin remodeler that plays fundamental roles in transcriptional repression, DNA damage repair, and lineage specification, making it indispensable for cardiov...
P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance [0.03%]
P4HA2通过调节胶原蛋白翻译后修饰和细胞外基质平衡参与屈光不正的发病机制
Yanling Liu,Shanshan Dong,Furong Huang et al.
Yanling Liu et al.
Myopia represents a refractive anomaly characterized by impaired vision resulting from a misfocused image in front of the fovea. Although numerous genes linked to high myopia (HM) have been identified, the exact etiology and pathogenesis me...
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal Cancer [0.03%]
解开免疫微环境互作的信号通路以克服结直肠癌免疫治疗抵抗性
Hui Zhang,Jingjing Shao,Tianye Zhao et al.
Hui Zhang et al.
As a major cause of cancer-related death globally, colorectal cancer (CRC) remains largely refractory to immunotherapy outside the context of microsatellite instability-high (MSI-H). This limited efficacy stems largely from the complex cros...
TMEM106C, BSG, COPE, CDCA8, KPNA2, LIG1, UQCRH, and CCT5: Predictive of Survival and Immunotherapy Resistance in Hepatocellular Carcinoma [0.03%]
TMEM106C、BSG、COPE、CDCA8、KPNA2、LIG1、UQCRH和CCT5：在肝细胞癌中预后及免疫治疗抗性的预测标志物
Kai Yu,Minqi Chen,Wanchao Hou et al.
Kai Yu et al.
Introduction: Hepatocellular carcinoma (HCC) remains a leading cause of cancer-related mortality worldwide, with cellular senescence playing a context-dependent role in tumor progression and the immunosuppressive microenv...