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196561por Kuwabara, Hiroshi, Katayanagi, Sou, Koganezawa, Itsuki, Nakagawa, Masashi, Katsumata, Kenji, Tsuchida, Akihiko, Kawachi, Shigeyuki“…Their etiology may include genetic mutations, estrogen-associated changes after childbirth, and mechanical factors such as a history of abdominal surgery. …”
Publicado 2021
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196562por Herviou, Laurie, Ovejero, Sara, Izard, Fanny, Karmous-Gadacha, Ouissem, Gourzones, Claire, Bellanger, Celine, De Smedt, Eva, Ma, Anqi, Vincent, Laure, Cartron, Guillaume, Jin, Jian, De Bruyne, Elke, Grimaud, Charlotte, Julien, Eric, Moreaux, Jérôme“…In addition to a wide panel of genetic mutations, epigenetic alterations also appear as important players in the development of this cancer, thereby offering the possibility to reveal novel approaches and targets for effective therapeutic intervention. …”
Publicado 2021
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196563por Bajpai, Jyoti, Abraham, George, Saklani, Avanish P., Agarwal, Anshul, Das, Sashanka, Chatterjee, Ambarish, Kapoor, Akhil, Eaga, Prathyusha, Mondal, Pradip Kumar, Chandrasekharan, Arun, Bhargava, Prabhat Ghanshyam, Srinivas, Sujay, Turkar, Siddharth, Rekhi, Bharat, Khanna, Nehal, Janu, Amit Kumar, Bal, Munita, Ostwal, Vikas Sureshchand, Ramaswamy, Anant, Rohila, Jitender, Desouza, Ashwin L., Guha, Amrita, Kumar, Rajiv, Menon, Nandini Sharrel, Rath, Sushmita, Patil, Vijay Maruti, Noronha, Vanita Maria, Joshi, Amit Prakashchandra, Laskar, Siddhartha, Rangarajan, Venkatesh, Prabhash, Kumar, Gupta, Sudeep, Banavali, Shripad“…Nearly 10.8% of the metastatic cohort were BRAF mutated. Among 368 non-metastatic patients (172 prior treated, 185 de novo, and 11 unresectable), with a median follow-up of 26 months (0–83 months), median EFS and OS were 29.5 (95% CI: 22–40) and 33.3 (95% CI: 29.5–41.2) months, respectively. …”
Publicado 2021
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196564por Du, Fei, Liu, Yun-Qi, Xu, Ying-Shuang, Li, Zi-Jia, Wang, Yu-Zhou, Zhang, Zi-Xu, Sun, Xiao-Man“…Moreover, in non-inducing or inducing period, high expression of T7 RNAP production leads to the high-production of hard-to-express proteins, which may all lead to loss of the expression plasmid or the occurrence of mutations in the expressed gene. Therefore, more BL21 (DE3)-derived variant strains with rigorous expression and different expression level of T7 RNAP should be developed. …”
Publicado 2021
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196565por Sicklick, Jason K., Kato, Shumei, Okamura, Ryosuke, Patel, Hitendra, Nikanjam, Mina, Fanta, Paul T., Hahn, Michael E., De, Pradip, Williams, Casey, Guido, Jessica, Solomon, Benjamin M., McKay, Rana R., Krie, Amy, Boles, Sarah G., Ross, Jeffrey S., Lee, J. Jack, Leyland-Jones, Brian, Lippman, Scott M., Kurzrock, Razelle“…Genomic profiling (tissue and/or circulating tumor DNA) was performed in all patients, and PD-L1 immunohistochemistry, tumor mutational burden, and microsatellite status assessment were performed in a subset of patients. …”
Publicado 2021
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196566por Tsou, Amy M., Goettel, Jeremy A., Bao, Bin, Biswas, Amlan, Kang, Yu Hui, Redhu, Naresh S., Peng, Kaiyue, Putzel, Gregory G., Saltzman, Jeffrey, Kelly, Ryan, Gringauz, Jordan, Barends, Jared, Hatazaki, Mai, Frei, Sandra M., Emani, Rohini, Huang, Ying, Shen, Zeli, Fox, James G., Glickman, Jonathan N., Horwitz, Bruce H., Snapper, Scott B.“…We have previously shown that Wiskott-Aldrich syndrome protein (WASP)-deficient mice (Was(−/−)) develop spontaneous colitis, similar to human patients with loss-of-function mutations in WAS. Furthermore, we showed that the development of colitis in Was(−/−) mice is Helicobacter dependent. …”
Publicado 2021
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196567por Deb, Paroma, Molla, Md. Maruf Ahmed, Saif-Ur-Rahman, KM, Das, Manik Chandra, Das, Debashish“…Unfortunately like any RNA viruses, SARS CoV-2 has also gone through the accumulation of hundreds and thousands of mutations in their genome lead to the development of several variants of concerns (VOC) and variants of interests (VOI), resulting in increased transmissibility and virulence of the virus, along with their capacity to escape cross-protection. …”
Publicado 2021
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196568por Mariotti, Sabrina, Capocefalo, Antonio, Chiantore, Maria Vincenza, Iacobino, Angelo, Teloni, Raffaela, De Angelis, Maria Laura, Gallinaro, Alessandra, Pirillo, Maria Franca, Borghi, Martina, Canitano, Andrea, Michelini, Zuleika, Baggieri, Melissa, Marchi, Antonella, Bucci, Paola, McKay, Paul F., Acchioni, Chiara, Sandini, Silvia, Sgarbanti, Marco, Tosini, Fabio, Di Virgilio, Antonio, Venturi, Giulietta, Marino, Francesco, Esposito, Valeria, Di Bonito, Paola, Magurano, Fabio, Cara, Andrea, Negri, Donatella, Nisini, Roberto“…The variants of concern (VOC) B.1.1.7 (Alpha), B.1.351 (Beta), P.1 (Gamma) and B.1.167.2 (Delta) showed mutations in the SARS-CoV-2 spike protein potentially able to cause escape from nAb responses with a consequent reduction of efficacy of vaccines and mAbs-based therapy. …”
Publicado 2021
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196569por Hong, Xiaozhen, Ying, Yanling, Zhang, Jingjing, Chen, Shu, Xu, Xianguo, He, Ji, Zhu, Faming“…BACKGROUND: Nucleotide mutations in the ABO gene may reduce the activity of glycosyltransferase, resulting in lower levels of A or B antigen expression in red blood cells. …”
Publicado 2021
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196570por Auer, Timo Alexander, Fehrenbach, Uli, Grieser, Christian, Penzkofer, Tobias, Geisel, Dominik, Schmelzle, Moritz, Müller, Tobias, Bläker, Hendrik, Seehofer, Daniel, Denecke, Timm“…RESULTS: Overall, there were 19 (24%) hepatocyte nuclear factor (HNF)-1a-mutated (HHCAs), 37 (47%) inflammatory (IHCAs), 5 (6.5%) b-catenin-activated (bHCA), and 18 (22.5%) unclassified (UHCAs) adenomas. …”
Publicado 2020
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196571por Menck, Kerstin, Heinrichs, Saskia, Wlochowitz, Darius, Sitte, Maren, Noeding, Helen, Janshoff, Andreas, Treiber, Hannes, Ruhwedel, Torben, Schatlo, Bawarjan, von der Brelie, Christian, Wiemann, Stefan, Pukrop, Tobias, Beißbarth, Tim, Binder, Claudia, Bleckmann, Annalen“…BACKGROUND: Breast cancer has been associated with activation of the WNT signaling pathway, although no driver mutations in WNT genes have been found yet. Instead, a high expression of the alternative WNT receptor ROR2 was observed, in particular in breast cancer brain metastases. …”
Publicado 2021
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196572por Liu, Alvin Y.“…PENK can induce differentiation to counter de-differentiation caused by scTF activation. The many mutations and aneuploidy characteristic of cancer cells appear not to hinder these two processes. …”
Publicado 2021
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196573por Wang, Xidi, Sipila, Patrick, Si, Zizhen, Rosales, Jesusa L., Gao, Xu, Lee, Ki-Young“…Developmental disorders characterized by small body size have been linked to CDK5RAP2 loss-of-function mutations, but the mechanisms underlying which remain obscure. …”
Publicado 2021
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196574por Solé, Emma, González-Prendes, Rayner, Oliinychenko, Yelyzaveta, Tor, Marc, Ros-Freixedes, Roger, Estany, Joan, Pena, Ramona N.“…In pigs, we identified a haplotype of three SNP mutations in the stearoyl-coA desaturase (SCD) gene promoter associated with higher content of monounsaturated fatty acids in intramuscular fat. …”
Publicado 2022
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196575por Ganz, Tal, Fainstein, Nina, Elad, Amit, Lachish, Marva, Goldfarb, Smadar, Einstein, Ofira, Ben-Hur, Tamir“…METHODS: We examined the effect of an infectious environment and of microbial Toll-like receptor (TLR) agonists on cortical neuronal loss and on microglial phenotype in wild type versus 5xFAD transgenic mice, carrying mutated genes associated with familial AD. RESULTS: We examined the effect of a naturally bred environment on the neurodegenerative process. …”
Publicado 2022
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196576por Wachholz, Vanessa, Mustafa, Al-Hassan M., Zeyn, Yanira, Henninger, Sven J., Beyer, Mandy, Dzulko, Melanie, Piée-Staffa, Andrea, Brachetti, Christina, Haehnel, Patricia S., Sellmer, Andreas, Mahboobi, Siavosh, Kindler, Thomas, Brenner, Walburgis, Nikolova, Teodora, Krämer, Oliver H.“…Acute myeloid leukemia (AML) with mutations in the FMS-like tyrosine kinase (FLT3) is a clinically unresolved problem. …”
Publicado 2021
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196577por Bonazzi, Vanessa F., Kondrashova, Olga, Smith, Deborah, Nones, Katia, Sengal, Asmerom T., Ju, Robert, Packer, Leisl M., Koufariotis, Lambros T., Kazakoff, Stephen H., Davidson, Aimee L., Ramarao-Milne, Priya, Lakis, Vanessa, Newell, Felicity, Rogers, Rebecca, Davies, Claire, Nicklin, James, Garrett, Andrea, Chetty, Naven, Perrin, Lewis, Pearson, John V., Patch, Ann-Marie, Waddell, Nicola, Pollock, Pamela M.“…Based on recent reports of frequent defects in the homologous recombination (HR) pathway in EC, we assessed mutational signatures and HR deficiency scores and correlated these with in vivo responses to the PARP inhibitor (PARPi) talazoparib in six PDXs representing the copy number high/p53-mutant and mismatch-repair deficient molecular subtypes of EC. …”
Publicado 2022
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196578por Smith, Tara C., Vasilakos, Georgios, Shaffer, Scott A., Puglise, Jason M., Chou, Chih-Hsuan, Barton, Elisabeth R., Luna, Elizabeth J.“…The SC coordinates changes in phosphorylation and Ca(++)-flux during mechanical deformation, and these processes are disrupted with loss-of-function mutations in gamma-sarcoglycan (Sgcg) that cause Limb girdle muscular dystrophy 2C/R5. …”
Publicado 2022
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196579por Italiano, Antoine, Cassier, Philippe A., Lin, Chia-Chi, Alanko, Tuomo, Peltola, Katriina J., Gazzah, Anas, Shiah, Her-Shyong, Calvo, Emiliano, Cervantes, Andrés, Roda, Desamparados, Tosi, Diego, Gao, Bo, Millward, Michael, Warburton, Lydia, Tanner, Minna, Englert, Stefan, Lambert, Stacie, Parikh, Apurvasena, Afar, Daniel E., Vosganian, Gregory, Moreno, Victor“…PATIENTS AND METHODS: Patients with recurrent/metastatic HNSCC or locally advanced/metastatic NSCLC naive to PD-1/PD-1-ligand inhibitors were enrolled; patients were not selected on the basis of oncogene driver mutations or PD-L1 status. Budigalimab was administered at 250 mg intravenously Q2W or 500 mg intravenously Q4W until disease progression/unacceptable toxicity. …”
Publicado 2021
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196580por Colavita, Francesca, Meschi, Silvia, Gruber, Cesare Ernesto Maria, Rueca, Martina, Vairo, Francesco, Matusali, Giulia, Lapa, Daniele, Giombini, Emanuela, De Carli, Gabriella, Spaziante, Martina, Messina, Francesco, Bonfiglio, Giulia, Carletti, Fabrizio, Lalle, Eleonora, Fabeni, Lavinia, Berno, Giulia, Puro, Vincenzo, Bartolini, Barbara, Di Caro, Antonino, Ippolito, Giuseppe, Capobianchi, Maria Rosaria, Castilletti, Concetta“…Finally, the proportion of post-vaccine infections attributed either to Alpha and Gamma variants was similar to the proportion observed in the contemporary unvaccinated population in the Lazio region, and mutational analysis did not reveal enrichment of a defined set of Spike protein substitutions depending on the vaccination status. …”
Publicado 2022
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