Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in ca... by Ghazi Elamin, Ghazi Elamin, Zhichao Zhang, Depika Dwarka, Kabange Kasumbwe, John Mellem, Nompumelelo P. Mkhwanazi, Paradise Madlala, Paradise Madlala, Mahmoud E. S. Soliman

“…Multiple sequence, genetic, structural and disease phenotype analyses were applied in this study.ResultsAnalysis revealed that out of 130 mutations, approximately 8.5% of these mutations were classified as pathogenic. …”
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Transcription factors MhyFIL1 and MhyFIL3 <i>(Monotropa hypopitys)</i> determine the asymmetric development of above-ground lateral organs in plants by A. V. Shchennikova, A. M. Kamionskaya, A. V. Nezhdanova, K. S. Gavrilova, M. A. Filyushin, E. Z. Kochieva, K. G. Skryabin

“…The effect of heterologous ectopic expression of the MhyFIL1 and MhyFIL3 genes on the phenotype of transgenic tobacco Nicotiana tabacum is evaluated. …”
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Overexpression of miR-124 enhances the therapeutic benefit of TMZ treatment in the orthotopic GBM mice model by inhibition of DNA damage repair by Yuchen Wei, Peng Wang, Jianhui Zhao, Xin Fan, Jun Jiang, Xiuli Mu, Yuzhou Wang, Angang Yang, Rui Zhang, Shijie Hu, Zhangyan Guo

“…Among them, a high level of miR-124 is closely associated with a favorable survival rate in the clinical patients. In the phenotype experiment, we demonstrated that miR-124 overexpression increases responsiveness of GBM cells to TMZ-induced cell death, and vice versa. …”
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USC-Derived Small Extracellular Vesicles-Functionalized Scaffolds Promote Scarless Vaginal Defect Repair via Delivery of Decorin and DUSP3 Proteins by Xu Y, Li J, Qiu Y, Wu F, Xue Z, Liu B, Fan H, Zhou Y, Wu Q

“…In vitro experiments revealed that USC-sEVs significantly inhibited the proliferation, collagen production, and activation of fibroblasts with a fibrotic phenotype, indicating the antifibrotic properties of USC-sEVs. …”
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Diabetic Ephrin-B2-Stimulated Peripheral Blood Mononuclear Cells Enhance Poststroke Recovery in Mice by Rose Hilal, Marine Poittevin, Adrien Pasteur-Rousseau, Adrien Cogo, Gabrielle Mangin, Marie Chevauché, Yasmine Ziat, José Vilar, Jean-Marie Launay, Jean-François Gautier, Dong Broquères-You, Bernard I. Levy, Tatyana Merkulova-Rainon, Nathalie Kubis

“…Cell transcriptional analysis showed that ephrin-B2 induced phenotype switching of PB-MNC by upregulating genes controlling cell proliferation, inflammation, and angiogenesis, as confirmed by adhesion and Matrigel assays. …”
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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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Liver sinusoidal endothelial cells regulate the balance between hepatic immunosuppression and immunosurveillance by Kimberly N. Kremer, Hadeel A. Khammash, Anjelica M. Miranda, Lauren N. Rutt, Shannon M. Twardy, Paige E. Anton, Margaret L. Campbell, Christian Garza-Ortiz, David J. Orlicky, Roberta Pelanda, Rebecca L. McCullough, Raul M. Torres

“…LSEC compete with dendritic cells presenting the same antigen to naïve CD8 T cells resulting in a unique T cell phenotype. Furthermore, LSEC abrogate killing of target cells, in an antigen-dependent manner, by previously activated effector CD8 T cells, and LSEC change the effector cell cytokine profile. …”
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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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ColMA‐based bioprinted 3D scaffold allowed to study tenogenic events in human tendon stem cells by Giacomo Cortella, Erwin Pavel Lamparelli, Maria Camilla Ciardulli, Joseph Lovecchio, Emanuele Giordano, Nicola Maffulli, Giovanna Della Porta

“…These results indicate a progressive over‐expression of type I collagen, reflecting cell differentiation towards a proper tenogenic phenotype. Cytokines, such as IL‐8 and IL‐6, levels peaked at 8566 and 7636 pg/mL, respectively, on day 7, before decreasing to 54 and 46 pg/mL by day 21. …”
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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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Gut dysbiosis-induced vitamin B6 metabolic disorder contributes to chronic stress-related abnormal behaviors in a cortisol-independent manner by Wenxiang Qing, Huimin Chen, Xin Ma, Jie Chen, Yuan Le, Hui Chen, Jianhua Tong, Kaiming Duan, Daqing Ma, Wen Ouyang, Jianbin Tong

“…This core phenotypic development was effectively inhibited with probiotic supplement. …”
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