How data science and AI-based technologies impact genomics by Jing Lin, Kee Yuan Ngiam

“…Advancements in high-throughput sequencing have yielded vast amounts of genomic data, which are studied using genome-wide association study (GWAS)/phenome-wide association study (PheWAS) methods to identify associations between the genotype and phenotype. The associated findings have contributed to pharmacogenomics and improved clinical decision support at the point of care in many healthcare systems. …”
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In vitro antitumor and immunomodulatory activities of 1,2,4-oxadiazole derivatives by Héverton Mendes Araújo, Gabriel Acácio de Moura, Yasmim Mendes Rocha, Cristian Vicson Pinheiro Gomes, Valentina Nascimento e Melo de Oliveira, Ronaldo Nascimento de Oliveira, Larissa Deadame de Figueiredo Nicolete, Emanuel Paula Magalhães, Ramon R.P.P.B. de Menezes, Roberto Nicolete

“…BMDMs isolated and exposed to 1,2,4-oxadiazole derivative 2 polarize to the M1 phenotype and induce TNF-α at a concentration of 64.34 μM. …”
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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

“…In addition, our findings emphasised the significance of functional analysis of UCVs and genotype–phenotype correlation in ADPKD.…”
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Subclinical systolic dysfunction in children with steroid-resistant nephrotic syndrome identified by speckle tracking echocardiography by Mohamed Hashem Mahgoob, Amr Mostafa Setouhi

“…Abstract Background Steroid resistant nephrotic syndrome (SRNS) is a clinical phenotype of nephrotic syndrome (NS) that does not respond to steroid therapy and usually results in kidney failure. …”
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Recent trends in studying of alcohol-induced liver disease by I. I. Komkova, M. S. Zharkova, M. V. Mayevskaya

“…Application of acidic sphingomyelinase, influence on Kupffer's cells phenotype, cannabinoids receptors as new targets for treatment of alcoholic liver disease is possible. …”
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Role of the Forkhead box family protein FOXF2 in the progression of solid tumor: systematic review by Yuzhen Zheng, Liusheng Wu, Zhenyu Hu, Hongying Liao, Xiaoqiang Li

“…Results In this review, we investigate the underlying impact of FOXF2 on tumor cells, including the transformation of cellular phenotype, capacity for migration, invasion, and proliferation, colonization of circulating cells, and formation of metastatic nodules. …”
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Urinary bacteriophage cooperation with bacterial pathogens during human urinary tract infections supports lysogenic phage therapy by Mahmood Almosuli, Anna Kirtava, Archil Chkhotua, Lia Tsveniashvili, Nina Chanishvili, Sumaiya Safia Irfan, Emily Ng, Hope McIntyre, Adam J. Hockenberry, Robyn P. Araujo, Weidong Zhou, Ngoc Vuong, Barbara Birkaya, Lance Liotta, Alessandra Luchini

“…Using human urine, model organisms, mass spectrometry, gene expression analysis, and the phage phenotype prediction model BACPHLIP, the results corroborated our hypotheses at the functional protein and gene levels. …”
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BIOSKIN: A Protocol for the Copenhagen Translational Skin Immunology Biobank and Research Programme by Lone Skov, Jeanne Duus Johansen, Marianne Bengtson Løvendorf

“…The clinical examination includes dermatological verification of diagnosis, evaluation of disease severity and detailed information on phenotype. The biological samples include blood and when accessible and relevant, skin biopsies, tape strips and skin swabs. …”
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The role of natural products targeting macrophage polarization in sepsis-induced lung injury by Yake Li, Sinan Ai, Yuan Li, Wangyu Ye, Rui Li, Xiaolong Xu, Qingquan Liu

“…As a key component of the innate immune system, macrophages play a vital role in SALI, in which a macrophage phenotype imbalance caused by an increase in M1 macrophages or a decrease in M2 macrophages is common. …”
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The efficacy of an allosteric modulator of the alpha 7 nicotinic acetylcholine receptor in a murine model of stroke by Katherine Hernandez, Nathan Jones, Sterling B. Ortega

“…Additionally, an assessment of neuroinflammation revealed no changes in CD4 T-cell cellularity or phenotype.DiscussionThese findings, alongside prior studies, suggest that the therapeutic efficacy of PNU may be contingent upon the timing of administration, dosage, and pharmacokinetics.…”
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Human microbiome, applied to clinical practice by V. T. Ivashkin, K. V. Ivashkin

“…The Human Genome Project assumes: development of the human genome variations database (HapMap; Human Variome Project), interpretation of human phenotype differences (Encyclopedia Of DNA Elements), modeling of human phenomenon (RECON), interpretation of epigenetic variants and hereditary changes in phenotypical manifestations. …”
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The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome by Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady

“…Materials and Methods: Fluorescence in situ hybridisation technique was applied to lymphocyte cultures as well as buccal smears using centromeric probes for X and Y chromosomes. Genotype phenotype correlation was also evaluated. Statistical Analysis Used: Descriptive study where categorical variables were described using number and percentage and continuous variables were described using mean and standard deviation. …”
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Insights into CSF-1/CSF-1R signaling: the role of macrophage in radiotherapy by Qingchao Shang, Qingchao Shang, Pei Zhang, Xiao Lei, Lehui Du, Baolin Qu

“…In addition, cumulative evidence demonstrated that M2 phenotype macrophage is dominant in tissue fibrosis and the inhibition of CSF-1/CSF-1R signaling pathway ameliorated pulmonary fibrosis, including radiation-induced lung fibrosis. …”
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Natural selection and adaptive traits in the Maniq, a nomadic hunter-gatherer society from Mainland Southeast Asia by Tobias Herzog, Maximilian Larena, Wibhu Kutanan, Helmut Lukas, Martin Fieder, Helmut Schaschl

“…Several genes associated with the Southeast Asian ‘negrito-like’ phenotype were also under positive selection. Balancing selection was primarily detected in immune-related genes, particularly within the HLA region, underscoring the critical role of genetic diversity in surviving pathogen-rich environments. …”
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Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

“…The clinical manifestations of hereditary spherocytosis (HS) are often heterogeneous, spanning from asymptomatic to severe symptoms that may pose life-threatening risks. Genotype-phenotype correlations remain controversial in clinical research. …”
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Low-density SNP marker sets for genetic variation analysis and variety identification in cultivated citrus by Phuong Linh Nguyen, Jin-Kee Jung, Jee-Soo Park, Sung-Chur Sim

“…The resulting SNP sets are a resource to enhance the phenotype-based DUS testing by developing a DNA barcode system and thus facilitate new variety breeding and protection in citrus.…”
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Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants by Si-Hua Chang, Jie-Yuan Jin, Yi-Qiao Hu, Run-Yan Wang, Rong Xiang, Xia Wang

“…However, the genotype-phenotype correlation and variants characteristics of CNKSR2 need further investigation and improvement. …”
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The external validity of machine learning-based prediction scores from hematological parameters of COVID-19: A study using hospital records from Brazil, Italy, and Western Europe. by Ali Safdari, Chanda Sai Keshav, Deepanshu Mody, Kshitij Verma, Utsav Kaushal, Vaadeendra Kumar Burra, Sibnath Ray, Debashree Bandyopadhyay

“…The external performance was reduced when the model was trained on datasets from Italy and tested on Brazil (AUC score 69%) and Western Europe (AUC score 65%); presumably affected by factors, like, ethnicity, phenotype, immunity, reference ranges, across the populations. …”
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Lower urinary dysfunction as a long-term effect of childhood vincristine treatment, with potential influences by sex and dose by Nao Iguchi, Ali Teimouri, Duncan T. Wilcox, Anna P. Malykhina, Nicholas G. Cost

“…These findings suggest that VCR exposure during childhood, particularly in males, triggers neuroimmune responses in the bladder and Ls-DRG, amplifying responsiveness to neurotransmitters in the bladder, thereby contributing to LUT dysfunction characterized by a mixed bladder phenotype as a late effect during survivorship.…”
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Platycodon grandiflorum-derived extracellular vesicles suppress triple-negative breast cancer growth by reversing the immunosuppressive tumor microenvironment and modulating the gu... by Min Yang, Jia Guo, Jinxian Li, Shuyue Wang, Yuan Sun, Ying Liu, Yinghua Peng

“…Additionally, PGEVs facilitated the polarization of tumor-associated macrophages (TAMs) toward M1 phenotype and increased the secretion of pro-inflammatory cytokines. …”
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