A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

“…Methods Genetic diagnosis was performed using trio‐whole exome sequencing, followed by bioinformatics predictions of pathogenicity. Structural modeling assessed the potential impact of the variant. …”
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Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome by Li Huang, Limei Sun, Zhirong Wang, Songshan Li, Chonglin Chen, Xiaoling Luo, Xiaoyan Ding

“…Whole exome sequencing was performed in the two families, followed by a multistep bioinformatics analysis. Sanger sequencing was used to verify the variants and to perform a segregation analysis. …”
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Multi-omics analysis reveals novel causal pathways in psoriasis pathogenesis by Hua Guo, Jinyang Gao, Liping Gong, Yanqing Wang

“…Publicly available datasets were utilized, including psoriasis GWAS data from the European Molecular Biology Laboratory–European Bioinformatics Institute and the UK Biobank. Heterogeneity in dependent instruments (HEIDI) test and colocalization analyses were performed to identify shared causal variants, and multi-omics integration was employed to construct potential regulatory pathways. …”
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The MIR181A2HG/miR‐5680/VCAN‐CD44 Axis Regulates Gastric Cancer Lymph Node Metastasis by Promoting M2 Macrophage Polarization by Weijie Zang, Yongpu Yang, Junjie Chen, Qinsheng Mao, Wanjiang Xue, Yilin Hu

“…Methods The expression of MIR181A2HG in GC was identified through bioinformatics screening analysis and qRT‐PCR validation. …”
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The key role of the NUDT3 gene in lung adenocarcinoma progression and its association with the manganese ion metabolism family by Deyong Ge, Xinyu Xu, Liyi Fang, Huihui Tao

“…GAPDH was used as the reference gene for normalization, and the relative expression levels of NUDT3 in these cell lines were analyzed to confirm bioinformatics findings. Results NUDT3 was found to be significantly upregulated in lung adenocarcinoma and highly correlated with tumor mutation burden (TMB) and mutation enrichment (MEs). …”
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EZH2 Mediates miR-146a-5p/HIF-1α to Alleviate Inflammation and Glycolysis after Acute Spinal Cord Injury by Shuangfei Ni, Bo Yang, Lei Xia, Huafeng Zhang

“…ChIP verified the enrichment of H3K27me3 in the miR-146a-5p promoter region. Bioinformatics predicted the binding sites of HIF-1α and miR-146a-5p, and dual-luciferase reporter assay verified the binding of HIF-1α and miR-146a-5p. …”
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Proteomic Identification and Functional Analysis of Babesia microti Reveals Heparin-Binding Proteins by Yu Chun Cai, Bin Xu, Yan Hong Chu, Ying Fang Yu, Jia Hui Sun, Zi Ran Mo, Han Yin Yang, Shu Ning Yan, Mu Xin Chen, Jia Xu Chen

“…This study aims to use proteomics to identify Babesia microti proteins with high binding affinity to heparin. Bioinformatics was utilized to analyze the subcellular localization and biological functions of these proteins. …”
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Scrutinizing the evidence of anthracene toxicity on adrenergic receptor beta-2 and its bioremediation by fungal manganese peroxidase via in silico approaches by Muhammad Naveed, Khadija Khatoon, Tariq Aziz, Rida Naveed, Muhammad Nouman Majeed, Maida Salah Ud Din, Tayyab Javed, Ayaz Ali Khan, Abdullah F. Alasmari

“…This study aims to alleviate the adverse environmental effects of anthracene through fungal degradation, focusing on bioremediation approaches using bioinformatics. Toxicity prediction using Pro-Tox 3.0 identified anthracene as a compound of toxicity class 4 with a LD50 of 316 mg/kg. …”
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PLCG2 and IFNAR1: The Potential Biomarkers Mediated by Immune Infiltration and Osteoclast Differentiation of Ankylosing Spondylitis in the Peripheral Blood by Bo Han, Qiaobo Xie, Weishi Liang, Peng Yin, Xianjun Qu, Yong Hai

“…We performed bioinformatics analysis using R software to validate different expression levels. …”
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Atrial Arrhythmias in Patients with Severe COVID-19 by Kai-Yue Han, Qi Qiao, Ye-Qian Zhu, Xin-Guang Chen, Xing-Xing Kang, Gao-Feng Zhang, Xun-Chao Cai, Yong Du, Jing Jin, Ruo-Min Di, Chen-Xi Yang, Feng-Xiang Zhang, Ying-Jia Xu

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In Silico Screening of Putative Corynebacterium pseudotuberculosis Antigens and Serological Diagnosis for Caseous Lymphadenitis in Sheep by Enzyme-Linked Immunosorbent Assay by Daniela Droppa-Almeida, Caroline de Santana Ferreira, Ioná Brito, Sibele Borsuk, Jorge Alberto López Rodríguez, Isabel Bezerra Lima-Verde, Francine Ferreira Padilha

“…Therefore, this study aimed to use bioinformatics software to evaluate the critical chemical characteristics of unknown proteins of C. pseudotuberculosis by selecting them for heterologous expression in Escherichia coli. …”
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Embracing Generative Artificial Intelligence in Clinical Research and Beyond by Henry P. Foote, MD, Chuan Hong, PhD, Mohd Anwar, PhD, Maria Borentain, MD, Kevin Bugin, PhD, Nancy Dreyer, PhD, MPH, Josh Fessel, MD, PhD, Nitender Goyal, MD, Morgan Hanger, MPP, Adrian F. Hernandez, MD, Christoph P. Hornik, MD, PhD, MPH, Jennifer G. Jackman, PhD, MBA, Alistair C. Lindsay, MD, MPH, DPhil, Michael E. Matheny, MD, Kerem Ozer, MD, Jan Seidel, PhD, Norman Stockbridge, MD, PhD, Peter J. Embi, MD, Christopher J. Lindsell, PhD

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Lymphatic-derived oxysterols promote anti-tumor immunity and response to immunotherapy in melanoma by Mengzhu Sun, Laure Garnier, Romane Chevalier, Martin Roumain, Chen Wang, Julien Angelillo, Julien Montorfani, Robert Pick, Dale Brighouse, Nadine Fournier, David Tarussio, Stéphanie Tissot, Jean-Marc Lobaccaro, Tatiana V. Petrova, Camilla Jandus, Daniel E. Speiser, Manfred Kopf, Caroline Pot, Christoph Scheiermann, Krisztian Homicsko, Giulio G. Muccioli, Abhishek D. Garg, Stéphanie Hugues

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From Natural Hosts to Agricultural Threats: The Evolutionary Journey of Phytopathogenic Fungi by Asanka Madhushan, Dulan Bhanuka Weerasingha, Evgeny Ilyukhin, Paul W. J. Taylor, Amila Sandaruwan Ratnayake, Jian-Kui Liu, Sajeewa S. N. Maharachchikumbura

“…The study of pathogen evolution has been transformed by advancements in molecular biology, genomics, and bioinformatics, utilizing methods like next-generation sequencing, comparative genomics, transcriptomics and population genomics. …”
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12 Weeks of Combined Endurance and Resistance Training Reduces Innate Markers of Inflammation in a Randomized Controlled Clinical Trial in Patients with Multiple Sclerosis by Nathalie Deckx, Inez Wens, Amber H. Nuyts, Niel Hens, Benedicte Y. De Winter, Gudrun Koppen, Herman Goossens, Pierre Van Damme, Zwi N. Berneman, Bert O. Eijnde, Nathalie Cools

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Observational research in epidemic settings: a roadmap to reform by Marc Lipsitch, Nicholas Evans, Alexandra L Phelan, Stephany N Duda, Annette Rid, Colin J Carlson, Jennifer B Rosen, Natalie E Dean, John Barugahare, Maya B Mathur, Emily E Ricotta, Fausto A Bustos Carrillo, Samuel Angelli-Nichols, Adia Benton, Emma Chang-Rabley, Lisa Federer, Mary-Margaret A Fill, Elizabeth C LeRoy, Natalie M Linton, Lauren Sauer, Sheena G Sullivan, Mackenzie Zendt

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Exploring and Verifying the Mechanism and Targets of Shenqi Pill in the Treatment of Nonalcoholic Steatohepatitis via Network Pharmacology and Experiments by Beihui He, Zheng Chen, Yunmeng Nie, Minmin Luo, Sumei Xu, Junbin Yan, Zhiyun Chen

“…Network pharmacology analysis and bioinformatics analysis showed that PTGS2, JUN, MYC, and CDKN1A might be crucial target genes in the primary mechanism of SQP in treating NASH and improving the inflammatory response. …”
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Backtranslation of human RNA biosignatures of tuberculosis disease risk into the preclinical pipeline is condition dependent by Hannah Painter, Sasha E. Larsen, Brittany D. Williams, Hazem F. M. Abdelaal, Susan L. Baldwin, Helen A. Fletcher, Andrew Fiore-Gartland, Rhea N. Coler

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The Geographical Distribution of Global Biobanks by Farzad Parvizpour, Sarvenaz Salahi, Mohammad Amin Mahmanzar, Karim Rahimian, Neda Esfandiari, Zahra Fatahi, Niousha Khoshdast, Reyhaneh Yarmohammadi, Mohamad Amir Amirkhani, Arefeh Jafarian

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The First Harmonic of Radial Pulse as an Early Predictor of Silent Coronary Artery Disease and Adverse Cardiac Events in Type 2 Diabetic Patients by Chi-Wei Chang, Kuo-meng Liao, Yi-Ting Chang, Sheng-Hung Wang, Ying-chun Chen, Gin-Chung Wang

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