A rare splice site mutation in the gene encoding glucokinase/hexokinase 4 in a patient with MODY type 2 by D. E. Ivanoshchuk, E. V. Shakhtshneider, A. K. Ovsyannikova, S. V. Mikhailova, O. D. Rymar, V. I. Oblaukhova, A. A. Yurchenko, M. I. Voevoda

“…., carriers of identical mutations. This phenotypic variation is due to the interaction of mutations with different genetic backgrounds and the influence of environmental factors (e. g., lifestyle). …”
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Circular RNA RHOT1 Regulates miR-142-5p/CCND1 to Participate in Chondrocyte Autophagy and Proliferation in Osteoarthritis by Gu Man, Haiwen Yang, Kai Shen, Donghong Zhang, Julin Zhang, Hao Wu, Hongyu Zhang, Jinhuan Wang

“…Meanwhile, the apoptosis was induced in OA rats but the depletion of circRHOT1 could block the phenotype in the rats. The articular cartilage degeneration was promoted in OA rats, while the knockdown of circRHOT1 repressed the degeneration. …”
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Exosome-mediated delivery of miR-9 induces cancer-associated fibroblast-like properties in human breast fibroblasts by Sara Baroni, S Romero-Cordoba, I Plantamura, M Dugo, E D’Ippolito, A Cataldo, G Cosentino, V Angeloni, A Rossini, M G Daidone, M V Iorio

“…Here we show that miR-9, upregulated in various breast cancer cell lines and identified as pro-metastatic miRNA, affects the properties of human breast fibroblasts, enhancing the switch to CAF phenotype, thus contributing to tumor growth. Expressed at higher levels in primary triple-negative breast CAFs versus NFs isolated from patients, miR-9 improves indeed migration and invasion capabilities when transfected in immortalized NFs; viceversa, these properties are strongly impaired in CAFs upon miR-9 inhibition. …”
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Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses by Moriel H. Singer-Berk, Kelly E. Knickelbein, Zachary T. Lounsberry, Margo Crausaz, Savanna Vig, Nikhil Joshi, Monica Britton, Matthew L. Settles, Christopher M. Reilly, Ellison Bentley, Catherine Nunnery, Ann Dwyer, Mary E. Lassaline, Rebecca R. Bellone

“…High-throughput sequencing data from six Haflingers were analyzed to ascertain if any other variant from the previously associated 483 kb locus on ECA12 was more concordant with the SCC phenotype than the DDB2 variant. Sixty polymorphisms were prioritized for evaluation, and no other variant from this locus explained the genetic risk better than the DDB2 allele (P=3.39×10−17, n=118). …”
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First genome-scale insights into the virulence of the snow mold causal fungus Microdochium nivale by Ivan Tsers, Ekaterina Marenina, Azat Meshcherov, Olga Petrova, Olga Gogoleva, Alexander Tkachenko, Natalia Gogoleva, Yuri Gogolev, Evgenii Potapenko, Olga Muraeva, Mira Ponomareva, Viktor Korzun, Vladimir Gorshkov

“…The transcriptome analysis combined with the assays for extracellular enzymatic activities (conventional virulence factors of many phytopathogens) was carried out to assess the effect of host plant (rye) metabolites on the M. nivale phenotype. In addition to disclosing plant-metabolite-upregulated M. nivale functional gene groups (including those related to host plant protein destruction and amino acid metabolism, xenobiotic detoxication (including phytoalexins benzoxazinoids), cellulose destruction (cellulose monooxygenases), iron transport, etc.), the performed analysis pointed to a crucial role of host plant lipid destruction and fungal lipid metabolism modulation in plant-M. nivale interactions.…”
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100% oxygen mobilizes stem cells and up-regulates MIF and APRIL in humans: a new point on the hormetic dose curve by Kent J. MacLaughlin, Gregory P. Barton, Julia E. MacLaughlin, Jacob J. Lamers, Matthew D. Marcou, Matthew J. O’Brien, Rudolf K. Braun, Marlowe W. Eldridge

“…Conversely CD45−/CD34+/CD133+, CD45-/CD34+/CD133− and CD45−/CD34−/CD133+ phenotypes were downregulated suggesting differentiation into more mature phenotypes. …”
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Targeting HVEM-GPT2 axis: a novel approach to T cell activation and metabolic reprogramming in non-small cell lung cancer therapy by Yuanshan Yao, Chunji Chen, Bin Li, Wen Gao

“…Co-cultured system and phenotype assays facilitated the examination of Jurkat T cells’ effect on A549 and H1299 lung cancer cells. …”
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The Platelet-Specific Gene Signature in the Immunoglobulin G4-Related Disease Transcriptome by Ali Kemal Oguz, Cagdas Sahap Oygur, Bala Gur Dedeoglu, Irem Dogan Turacli, Sibel Serin Kilicoglu, Ihsan Ergun

“…<i>Conclusions</i>: Patients with IgG4-RD apparently display an activated platelet phenotype with a potential contribution to disease immunopathogenesis. …”
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A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

“…A literature review was conducted to analyze the genotype–phenotype correlations and epilepsy characteristics in related cases. …”
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EPIGENETICS TODAY AND TOMORROW by B. F. Vanyushin

“…The therapeutic action of many known small biologically active peptides seems to be expressed mainly at the epigenetic level. Thus, a phenotype is a product of combined expression of the genome and epigenome. …”
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MSC-Derived Exosome Promotes M2 Polarization and Enhances Cutaneous Wound Healing by Xiaoning He, Zhiwei Dong, Yina Cao, Han Wang, Shiyu Liu, Li Liao, Yan Jin, Lin Yuan, Bei Li

“…Mechanistically, we found that exosomes derived from MSCs induced macrophage polarization and depletion of exosomes of MSCs reduced the M2 phenotype of macrophages. Infusing MSCs without exosomes led to lower number of M2 macrophages at the wound site along with delayed wound repair. …”
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Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis by E. V. Antontseva, A. O. Degtyareva, E. E. Korbolina, I. S. Damarov, T. I. Merkulova

“…The vast majority of SNPs identified in the human genome do not have any effect on the phenotype; however, some can lead to changes in the function of a gene or the level of its expression. …”
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March1 E3 Ubiquitin Ligase Modulates Features of Allergic Asthma in an Ovalbumin-Induced Mouse Model of Lung Inflammation by Osama A. Kishta, Antoine Sabourin, Leora Simon, Toby McGovern, Maxime Raymond, Tristan Galbas, Abdelilah Majdoubi, Satoshi Ishido, James G. Martin, Jacques Thibodeau

“…Herein, we used an acute model of allergy to compare the asthmatic phenotype of March1-deficient and -sufficient mice immunized with ovalbumin (OVA) and later challenged by intranasal instillation of OVA in the lungs. …”
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Designing host-associated microbiomes using the consumer/resource model by Germán Plata, Karthik Srinivasan, Madan Krishnamurthy, Lukas Herron, Purushottam Dixit

“…ABSTRACT A key step toward rational microbiome engineering is in silico sampling of realistic microbial communities that correspond to desired host phenotypes, and vice versa. This remains challenging due to a lack of generative models that simultaneously capture compositions of host-associated microbiomes and host phenotypes. …”
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The APOE∗3-Leiden Heterozygous Glucokinase Knockout Mouse as Novel Translational Disease Model for Type 2 Diabetes, Dyslipidemia, and Diabetic Atherosclerosis by Marianne G. Pouwer, Suvi E. Heinonen, Margareta Behrendt, Anne-Christine Andréasson, Arianne van Koppen, Aswin L. Menke, Elsbet J. Pieterman, Anita M. van den Hoek, J. Wouter Jukema, Brendan Leighton, Ann-Cathrine Jönsson-Rylander, Hans M. G. Princen

“…E3L and E3L.GK+/− mice developed NASH with severe inflammation and fibrosis which, however, was not altered by introduction of the defective GK phenotype, whereas mild kidney pathology with tubular vacuolization was present in all three phenotypes. …”
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Yunvjian decoction attenuates lipopolysaccharide-induced acute lung injury by inhibiting NF-κB/NLRP3 pathway and pyroptosis by Fanxuan Zhang, Fang Wang, Lisha Zhao, Leqian Wang, Wenjing Li, Feihua Huang, Feihua Huang, Nani Wang, Nani Wang

“…YNJ-containing serum also decreased the secretion of tumor necrosis factor-α, IL-6, and IL-1β in LPS-stimulated RAW264.7 macrophages, and promoted macrophage polarization toward an M2 phenotype. A total of 23 absorbed components were identified in YNJ-containing serum. …”
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BeatProfiler: Multimodal In Vitro Analysis of Cardiac Function Enables Machine Learning Classification of Diseases and Drugs by Youngbin Kim, Kunlun Wang, Roberta I. Lock, Trevor R. Nash, Sharon Fleischer, Bryan Z. Wang, Barry M. Fine, Gordana Vunjak-Novakovic

“…We then demonstrate that the data acquired by our automatic acquisition pipeline can be further harnessed for machine learning (ML) analysis to phenotype a disease model of restrictive cardiomyopathy and profile cardioactive drug functional response. …”
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Cellular and immune landscape of chronic liver diseases: insights from immunophenotyping by Shaghayegh Soleimani, Shaghayegh Soleimani, Ozgur Albayrak, Kayra Somay, Hong Yang, Buket Yigit, Burge Ulukan, Dila Atak, Murat Akyildiz, Metehan Gursoy, Elif Demirtas, Adil Mardinoglu, Adil Mardinoglu, Atay Vural, Atay Vural, Murat Dayangac, Mujdat Zeybel

“…Differential expression analysis identified several genes associated with immune regulation, including downregulation of CD27 and upregulation of granzyme B in ARLD, consistent with a highly differentiated phenotype. LAG3 and PDCD1 were upregulated in peri-tumor samples. …”
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Multi-targeted nanogel drug delivery system alleviates neuroinflammation and promotes spinal cord injury repair by Penghui Wang, Zaifeng Chen, Ping Li, Abdullah Al Mamun, Shaoxia Ning, Jinjing Zhang, Chonghui Tang, Tianmiao Sun, Jian Xiao, Xiaojie Wei, Fenzan Wu

“…Crucially, our findings reveal that QLipTC@HDM induces M2 phenotype transformation in glial cells and in mice with SCI, thereby mitigating inflammation. …”
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Clinical features and genetic analysis of 15 Chinese children with dent disease by Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun

“…There was no significant difference in age or clinical phenotype among patients with different mutation types (p > 0.05). …”
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