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197941por Fouad, Aliaa, Nicolau, Samantha, Tamma, Pranita, Simner, Patricia J, Nicolau, David P, Gill, Christian M“…Resistance may be a result of the stress exposure or molecular level mutations conferring cross-resistance. Further in vivo and clinical data are needed to further assess the clinical implications of these findings. …”
Publicado 2023
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197942por Lavoie, Thomas, Daffinee, Katie, Pogue, jason M, Achour, Brahim, LaPlante, Kerry L“…METHODS: An AmpC β-lactamase producing E. cloacae with porin mutations and a meropenem minimum inhibitory concentration (MIC) of 2μg/mL was used to make a starting model inoculum of 6 log(10) CFU/mL. …”
Publicado 2023
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197943por Carvalhaes, Cecilia G, Rhomberg, Paul, Klauer, Abby L, Hatch, Beth, Castanheira, Mariana“…Azole resistance in Aspergillus fumigatus (AFM) is a growing concern, mainly caused by mutations within CYP51 genes. The activity of ISC and other azoles against AFM causing IA worldwide was evaluated by applying the new CLSI ISC clinical breakpoints (BP). …”
Publicado 2023
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197944“…BACKGROUND: Currently circulating Omicron subvariants contain mutations permitting evasion of neutralization with prototype vaccines. …”
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197945por Rodriguez, Lauren, Li, Jiani, Han, Dong, Martin, Ross, Moshiri, Jasmine, Peinovich, Nadine, Bilello, John P, Perry, Jason K, Hedskog, Charlotte“…Evaluation of CH.1.1 and XBF by introducing variant-defining mutations into the replicon showed no change in in vitro susceptibility (< 1.8-fold change). …”
Publicado 2023
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197946“…PURPOSE: Mutations in the CACNA1F gene encoding the L-type calcium channel pore-forming Ca(v)1.4 (α1F) subunit in humans result in an incomplete form of congenital stationary night blindness (CSNB2) with residual photoreceptor function. …”
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197947por Seymour, Matthew T, Brown, Sarah R, Middleton, Gary, Maughan, Timothy, Richman, Susan, Gwyther, Stephen, Lowe, Catherine, Seligmann, Jennifer F, Wadsley, Jonathan, Maisey, Nick, Chau, Ian, Hill, Mark, Dawson, Lesley, Falk, Stephen, O'Callaghan, Ann, Benstead, Kim, Chambers, Philip, Oliver, Alfred, Marshall, Helen, Napp, Vicky, Quirke, Phil“…Tumour DNA was pyrosequenced for KRAS(c.146), BRAF, NRAS, and PIK3CA mutations, and predefined molecular subgroups were analysed for interaction with the effect of panitumumab. …”
Publicado 2013
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197948“…The test data used in this study are IPDATA (Irvine Primate splice- junction DATA set), a subset of HS3D (Homo Sapiens Splice Sites Dataset) and a subset of COSMIC (the Catalogue of Somatic Mutations in Cancer). The execution time and the speed-up on IPDATA reach the best values within about 90 processors. …”
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197949“…Importantly, both miR-29b/c and miR-200b/c strongly decreased steady state levels of ADAM12-L protein in all breast cancer cell lines tested. miR-29b/c and miR-200b/c also significantly decreased the activity of an ADAM12-L 3′UTR reporter, and this effect was abolished when miR-29b/c and miR-200b/c target sequences were mutated. In contrast, miR-30b/d did not elicit consistent and significant effects on ADAM12-L expression. …”
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197950por Abílio, Ana Paula, Marrune, Pelágio, de Deus, Nilsa, Mbofana, Francisco, Muianga, Pedro, Kampango, Ayubo“…The frequency of kdr gene mutations was determined from a random sample of A. gambiaes.s. from both WHO susceptibility and cone bioassay experiments. …”
Publicado 2015
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197951por Feng, Zhong-Ming, Qiu, Jun, Chen, Xie-Wan, Liao, Rong-Xia, Liao, Xing-Yun, Zhang, Lu-Ping, Chen, Xu, Li, Yan, Chen, Zheng-Tang, Sun, Jian-Guo“…BCSCs could be derived from mutated mammary epithelial stem cells (MaSCs). Therefore, comparing the molecular differences between BCSCs and MaSCs may clarify the mechanism underlying breast carcinogenesis and the targets for gene therapy. …”
Publicado 2015
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197952por Heckel, Tobias, Schmucki, Roland, Berrera, Marco, Ringshandl, Stephan, Badi, Laura, Steiner, Guido, Ravon, Morgane, Küng, Erich, Kuhn, Bernd, Kratochwil, Nicole A., Schmitt, Georg, Kiialainen, Anna, Nowaczyk, Corinne, Daff, Hamina, Khan, Azinwi Phina, Lekolool, Isaac, Pelle, Roger, Okoth, Edward, Bishop, Richard, Daubenberger, Claudia, Ebeling, Martin, Certa, Ulrich“…The genomes of Sus scrofa, the Tibetan boar, the African Bushpig, and the Warthog show sequence conservation of all inactivating HEPN1 mutations suggesting disruption before the evolutionary split of these pig species. …”
Publicado 2015
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197953por Cortez, Maria Angelica, Ivan, Cristina, Valdecanas, David, Wang, Xiaohong, Peltier, Heidi J., Ye, Yuping, Araujo, Luiz, Carbone, David P., Shilo, Konstantin, Giri, Dipak K, Kelnar, Kevin, Martin, Desiree, Komaki, Ritsuko, Gomez, Daniel R., Krishnan, Sunil, Calin, George A., Bader, Andreas G., Welsh, James W.“…PDL1 and miR-34a expression were analyzed in samples from patients with NSCLC and mutated p53 vs wild-type p53 tumors from The Cancer Genome Atlas for Lung Adenocarcinoma (TCGA LUAD). …”
Publicado 2015
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197954por Li, Cong, Sun, Dongxiao, Zhang, Shengli, Yang, Shaohua, Alim, M. A., Zhang, Qin, Li, Yanhua, Liu, Lin“…RESULTS: Nine SNPs were identified in FASN, among which SNP rs41919985 was predicted to result in an amino acid substitution from threonine (ACC) to alanine (GCC), five SNPs (rs136947640, rs134340637, rs41919992, rs41919984 and rs41919986) were synonymous mutations, and the remaining three (rs41919999, rs132865003 and rs133498277) were found in FASN introns. …”
Publicado 2016
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197955“…One subject in the R/F/TAF group had 2 blips prior to experiencing virologic rebound with mutations also detected at baseline (determined by retrospective proviral DNA sequencing). …”
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197956“…METHODS: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. …”
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197957por Srivatsa, Sriram, Paul, Mariel C., Cardone, Claudia, Holcmann, Martin, Amberg, Nicole, Pathria, Paulina, Diamanti, Michaela A., Linder, Markus, Timelthaler, Gerald, Dienes, Hans P., Kenner, Lukas, Wrba, Fritz, Prager, Gerald W., Rose-John, Stefan, Eferl, Robert, Liguori, Giuseppina, Botti, Gerardo, Martinelli, Erika, Greten, Florian R., Ciardiello, Fortunato, Sibilia, Maria“…BACKGROUND & AIMS: Inhibitors of the epidermal growth factor receptor (EGFR) are the first-line therapy for patients with metastatic colorectal tumors without RAS mutations. However, EGFR inhibitors are ineffective in these patients, and tumor level of EGFR does not associate with response to therapy. …”
Publicado 2017
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197958por Yu, Honghao, Long, Weihu, Zhang, Xuezeng, Xu, Kaixiang, Guo, Jianxiong, Zhao, Heng, Li, Honghui, Qing, Yubo, Pan, Weirong, Jia, Baoyu, Zhao, Hong-Ye, Huang, Xingxu, Wei, Hong-Jiang“…BACKGROUND: Laron syndrome is an autosomal disease resulting from mutations in the growth hormone receptor (GHR) gene. …”
Publicado 2018
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197959por Mauhin, Wladimir, Lidove, Olivier, Amelin, Damien, Lamari, Foudil, Caillaud, Catherine, Mingozzi, Federico, Dzangué-Tchoupou, Gaëlle, Arouche-Delaperche, Louiza, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D’Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Froissart, Roseline, Lacombe, Didier, Ziza, Jean Marc, Hachulla, Eric, Benveniste, Olivier“…Antibodies developed preferentially in men with non-missense GLA mutations (relative risk 2.88, p = 0.006) and classic phenotype (58.6% (17/29) vs 6.7% (1/16), p = 0.0005). …”
Publicado 2018
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197960por Kebriaei, Razieh, Rice, Seth, Singh, Kavindra, Stamper, Kyle, Dinh, An, Rios, Rafael, Diaz, Lorena, Murray, Barbara, Munita, Jose M, Tran, Truc T, Arias, Cesar, Rybak, Michael J“…METHODS: E. faecium R497 harboring liaSFR mutations (DAP MIC of 16 mg/L) was evaluated in a simulated endocardial vegetation (SEV) pharmacokinetic and pharmacodynamic model over 336 hours at a starting inoculum of 10(9) log10 CFU/g of SEV. …”
Publicado 2018
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