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197621por Chiem, Kevin, Morales Vasquez, Desarey, Silvas, Jesus A., Park, Jun-Gyu, Piepenbrink, Michael S., Sourimant, Julien, Lin, Michelle J., Greninger, Alexander L., Plemper, Richard K., Torrelles, Jordi B., Walter, Mark R., de la Torre, Juan C., Kobie, James K., Ye, Chengjin, Martinez-Sobrido, Luis“…Here, we report the generation and use of a recombinant (r)SARS-CoV-2 USA/WA1/2020 (WA-1) strain expressing Venus and an rSARS-CoV-2 strain expressing mCherry and containing mutations K417N, E484K, and N501Y found in the receptor binding domain (RBD) of the spike (S) glycoprotein of the South African (SA) B.1.351 (beta [β]) VoC in bifluorescent-based assays to rapidly and accurately identify human monoclonal antibodies (hMAbs) able to neutralize both viral infections in vitro and in vivo. …”
Publicado 2021
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197622por Ismail, Nabila, Rivière, Emmanuel, Limberis, Jason, Huo, Stella, Metcalfe, John Z, Warren, Rob M, Van Rie, Annelies“…The primary outcome was to identify mutations associated with resistance in four genes of interest (Rv0678, atpE, pepQ, and Rv1979c); for each genomic variant, the odds ratio (OR), 95% CI, and p value were calculated to identify resistance markers associated with bedaquiline resistance. …”
Publicado 2021
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197623“…CONCLUSION: An unprecedented RSV epidemic within the last 10 years caused by a novel ON1 variant has occurred in 2020 (Figure 1), suggesting the sets of mutations may confer fitness advantage. Further studies on viral replication, infectivity and virulence is needed to understand the evolution and spread of RSV. …”
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197624por VanderVeen, Laurie, Margot, Nicolas, Naik, Vidula, Chang, Silvia, Martin, Ross, Dvory-Sobol, Hadas, Rhee, Martin, Callebaut, Christian“…Sequence analysis of baseline samples found 65% of amino acid residues were conserved with < 1% variation across CA overall, and 55% of residues were fully conserved. No mutations were detected at 6 positions in CA associated with reduced susceptibility to LEN in vitro; residues were fully conserved at 5 positions (L56, M66, Q67, K70, N74), and < 2% variation was observed at 1 position (T107). …”
Publicado 2021
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197625por Tarabay, Jessica, Babiker, Ahmed, Adelman, Max W, Stittleburg, Victoria D, Varkey, Jay, Pouch, Stephanie M, Waggoner, Jesse, Piantadosi, Anne“…RESULTS: Analysis of longitudinal SARS-CoV-2 sequence data demonstrated within-patient virus evolution, including mutations in the receptor binding domain and deletions in the N-terminal domain of the spike protein, which have been implicated in antibody escape. …”
Publicado 2021
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197626por Skrzypczyk, Piotr, Wabik, Anna Maria, Szyszka, Michał, Józwiak, Sergiusz, Bombiński, Przemysław, Jakimów-Kostrzewa, Aleksandra, Brzewski, Michał, Pańczyk-Tomaszewska, Małgorzata“…Objectives: Experimental data indicate that activating mutations in the mTOR (mammalian target of rapamycin) pathway may lead to abnormal arterial wall structure. …”
Publicado 2021
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197627“…BACKGROUND: Long-term observations and studies have found that the occurrence and development of lung adenocarcinoma (LUAD) is associated with certain metabolic changes and that metabolic disorders are directly related to carcinogenic gene mutations. We attempted to establish a prognostic model for LUAD based on the expression profiles of metabolic genes. …”
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197628por Rosato, Adriana E., Msiha, Engy, Weng, Bruce, Mesisca, Michael, Gnass, Ronaldo, Gnass, Silvia, Bol, Cedric, Tabuenca, Arnold, Rosato, Roberto R.“…Whole genome sequencing of 46 randomly selected samples validated the strains identified as positive and negative for the B.1.617.2 (Delta) variant and confirmed the S gene deletion in addition to B.1.617.2 characteristic mutations including L452R, T478K, P681R and D950N located in the spike protein. …”
Publicado 2022
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197629“…OBJECTIVES/GOALS: Genetic variation in L-type voltage-gated calcium channels, including Ca(V)1.3, is associated with increased risk for psychiatric disorders including bipolar disorder and schizophrenia. Additionally, rare mutations in Ca(V)1.3 have been linked to epilepsy, developmental delay, and autism. …”
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197630por Chen, Ru, Zhang, Zhicheng, Hu, Bing, Jiang, Ming, Zheng, Ping, Deng, Wen, Fu, Bin, Sun, Ting“…Univariate and multivariate analyses illustrated that the expressions of E2F4/5/7 were independent factors associated with the OSs and PFSs of patients with ccRCC. Meanwhile, the mutations in E2Fs were also significantly related to poor OSs and PFSs of patients with ccRCC. …”
Publicado 2022
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197631por Mancini, Manuela, Monaldi, Cecilia, De Santis, Sara, Rondoni, Michela, Papayannidis, Cristina, Sartor, Chiara, Curti, Antonio, Bruno, Samantha, Cavo, Michele, Soverini, Simona“…Although midostaurin, a multikinase inhibitor active against both wild-type and D816V-mutated KIT, improves organ damage and symptoms, a proportion of patients relapse or have resistant disease. …”
Publicado 2022
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197632por Tzukerman, Maty, Shamai, Yeela, Abramovich, Ifat, Gottlieb, Eyal, Selig, Sara, Skorecki, Karl“…Most studies have compared the effects of ectopic overexpression of the parental non-risk APOL1 with the mutated risk variants in cellular and organismal platforms. …”
Publicado 2022
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197633“…India accounts almost 10% of the total mortality. The mutated Variants of Concern (VoC) and Variants of Interest (VoI) has acquired non-synonymous amino acid substitutions in Spike (S), ORF1a, ORF1b, Nucleocapsid (N), Membrane (M), Envelope (E), ORF6, ORF7a, ORF3a and ORF8 regions exhibiting more virulence and higher transmission rate. …”
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197634por Cano-Gómez, C., Pérez-Ramírez, E., Aguilera-Sepúlveda, P., Llorente, F., Villalba, A., Jiménez-Clavero, M.A., Fernández-Pinero, J.“…Cats and owner sequences of the spike protein were homologous with two mutations (A222V and D614G) that classify the virus within the 20A.EU1 clade. …”
Publicado 2022
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197635por Rack, Samuel, Feeney, Laura, Hapuarachi, Brindley, Adderley, Helen, Woodhouse, Laura, Betts, Guy, Burghel, George J., Harrington, Kevin J., Metcalf, Robert“…Alterations were most frequent in salivary duct carcinoma (88%) characterized by TP53 and/or PIK3CA mutations, with matched trials available for 63% (10/16). …”
Publicado 2022
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197636por Oturkar, Chetan C., Gandhi, Nishant, Rao, Pramod, Eng, Kevin H., Miller, Austin, Singh, Prashant K., Zsiros, Emese, Odunsi, Kunle O., Das, Gokul M.“…The high prevalence of mutations (~96%) in tumor suppressor p53 is a hallmark of HGSOC. …”
Publicado 2022
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197637por Granata, Vincenza, Fusco, Roberta, De Muzio, Federica, Cutolo, Carmen, Setola, Sergio Venanzio, dell’ Aversana, Federica, Ottaiano, Alessandro, Avallone, Antonio, Nasti, Guglielmo, Grassi, Francesca, Pilone, Vincenzo, Miele, Vittorio, Brunese, Luca, Izzo, Francesco, Petrillo, Antonella“…ABSTRACT: Purpose: To assess radiomics features efficacy obtained by arterial and portal MRI phase in the prediction of clinical outcomes in the colorectal liver metastases patients, evaluating recurrence, mutational status, pathological characteristic (mucinous and tumor budding) and surgical resection margin. …”
Publicado 2022
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197638por McNeel, Douglas G, Eickhoff, Jens C, Wargowski, Ellen, Johnson, Laura E, Kyriakopoulos, Christos E, Emamekhoo, Hamid, Lang, Joshua M, Brennan, Mary Jane, Liu, Glenn“…Baseline DNA homologous recombination repair mutations were not associated with longer time to progression. …”
Publicado 2022
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197639por Zhang, Tingting, Liu, Hengqi, Jiao, Lei, Zhang, Zhenzhen, He, Jin, Li, Lanfang, Qiu, Lihua, Qian, Zhengzi, Zhou, Shiyong, Gong, Wenchen, Meng, Bin, Ren, Xiubao, Zhang, Huilai, Wang, Xianhuo“…RESULTS: SP140 was identified as a novel translocation partner for PD-L1, and a new inversion was detected between PD-L1 and PD-L2, both leading to the upregulation of PD-L1 expression. CD73 genetic mutations did not increase mRNA and protein expression. …”
Publicado 2022
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197640por Lotsberg, Maria L., Røsland, Gro V., Rayford, Austin J., Dyrstad, Sissel E., Ekanger, Camilla T., Lu, Ning, Frantz, Kirstine, Stuhr, Linda E. B., Ditzel, Henrik J., Thiery, Jean Paul, Akslen, Lars A., Lorens, James B., Engelsen, Agnete S. T.“…Epidermal growth factor receptor (EGFR) mutations are prevalent in non-small cell lung cancer (NSCLC), yet various mechanisms of acquired resistance, including epithelial-to-mesenchymal transition (EMT), limit the clinical benefit of EGFR tyrosine kinase inhibitors (EGFRi). …”
Publicado 2022
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