Identification of C4BPA as a genetically informed drug target in NSCLC: an integrative single-cell and multi-omics study based on the druggable genes [0.03%]
基于可成药基因的整合单细胞和多组学研究将C4BPA识别为NSCLC的遗传信息药物靶点
Zhihan Xiao,Xinji Liu,Wei Tang et al.
Zhihan Xiao et al.
Background: Non-small cell lung cancer (NSCLC) remains a leading cause of cancer-related mortality worldwide. Despite advancements in treatment, drug resistance and limited therapeutic efficacy persist, underscoring the u...
High-order single-nucleotide polymorphism interactions between selected anti-oxidant and protease genes influence North Indians' propensity for chronic obstructive pulmonary disease (COPD) and lung function parameters [0.03%]
抗氧化和蛋白酶基因的单核苷酸多态性互作影响印度北部人群慢性阻塞性肺疾病易感性和肺功能参数
Heena Kansal,Vishal Chopra,Kranti Garg et al.
Heena Kansal et al.
Background: COPD causes persistent airflow restriction, oxidative stress, and inflammation. Proteins like MMP9, MMP12, and ADAM33, and antioxidant enzymes such as Glutathione Peroxidase, Superoxide Dismutase, and Catalase...
Ramil R Salakhov,Rita I Khusainova,Olga V Vasyukova et al.
Ramil R Salakhov et al.
Background: Hereditary forms of obesity are characterized by early severe heterogeneous manifestations of the phenotype along with a rapid progression to morbid obesity, primary due to pathogenic variants of certain genes...
Investigating the demographic history of Sindhi population inhabited in West Coast India [0.03%]
印度西海岸居民的信德人人口历史研究
Lomous Kumar,Suraj Nongmaithem,Sachin Kumar et al.
Lomous Kumar et al.
Background: South Asian populations are genetically well stratified due to multiple waves of migration, admixture events, and endogamy. India remains a rich resource for population genomics studies with many small and soc...
Katie Huang,Panagiotis Nikolaos Lalagkas,Beftu Sultan et al.
Katie Huang et al.
Background: Using large data to propose new uses of drugs has potential to rapidly prioritize new treatments for major diseases of public health importance. One comprehensive data set, LINCS L1000 Connectivity Map, profil...
Decoding the lactylation-immune link in calcific aortic valve disease: a comprehensive bioinformatics approach [0.03%]
乳酰化-免疫在主动脉瓣钙化疾病中联系的解码：一种全面的生物信息学方法
Gaofeng Li,Jinchi Zhang,Xiang Qiu et al.
Gaofeng Li et al.
Background: Calcific aortic valve disease is a progressive disorder characterized by pathological leaflet thickening and calcification. Early disease features include immune cell infiltration and metabolic dysregulation, ...
Emanuele Bonetti,Serena Pellegatta,Nayma Rosati et al.
Emanuele Bonetti et al.
Identification of a pathogenic variant in NF1 is diagnostic for neurofibromatosis, but is often impossible at the moment of variant detection due to many factors including allelic heterogeneity, sequence homology, and the lack of functional...
Carrying APOL1 G1 allele is associated with cardiovascular complications during COVID-19 in an admixed population [0.03%]
APOL1 G1基因与混合人群中COVID-19患者的心血管并发症相关
Nathan A Cadore,Bibiana S de O Fam,Giovanna C Giudicelli et al.
Nathan A Cadore et al.
Machine learning-based transcriptomic analysis identifies candidate genes in sepsis-induced coagulopathy and explores the immunomodulatory potential of baicalein [0.03%]
基于机器学习的转录组分析识别脓毒症凝血病候选基因并探讨黄芩素免疫调节潜力
Lifang Mu,Yuxue Zhang,Tingting Yuan et al.
Lifang Mu et al.
Background: Sepsis is a major contributor to high morbidity and mortality, often leading to coagulation disorders (CD) in affected individuals. Baicalein, a natural compound with well-established anti-inflammatory propert...
A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review [0.03%]
COL1A1基因新型剪切改变的移码突变导致I型成骨不全：四代汉族家系的分子特征及文献综述
Dongye He,Yanan Luo,Shuoshuo Wei et al.
Dongye He et al.
Backgroud: Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous group of inherited connective tissue disorder. This investigation aims to elucidate the molecular etiology underlying a four-genera...