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194701por Symonds, Peter, Marcu, Ana, Cook, Katherine W., Metheringham, Rachael L., Durrant, Lindy G., Brentville, Victoria A.“…BACKGROUND: Somatic mutations or post-translational modifications of proteins result in changes that enable immune recognition. …”
Publicado 2021
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194702por Nicolaou, Paschalis, Tanteles, George A., Votsi, Christina, Zamba-Papanicolaou, Eleni, Papacostas, Savvas S., Christodoulou, Kyproula, Christou, Yiolanda-Panayiota“…CLN6 encodes an endoplasmic reticulum non-glycosylated transmembrane protein, which is involved in lysosomal acidification. Mutations in CLN6 cause late-infantile juvenile NCL (JNCL) adult-onset NCL, and Kufs disease. …”
Publicado 2021
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194703por Gatesy, Samuel W, Pincus, Nathan B, Moore, William Justin, Al-Heeti, Omar, Joshi, Tejas, R Bachta, Kelly E“…WGS of VRE_001 revealed a plethora of antimicrobial resistance mechanisms including three mutations that explain high levels of DAP resistance. …”
Publicado 2021
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194704por Tasker, Sybil, Bendel, Daryl, Bevan, Melissa, Mueller, Steffen, Kushnir, Anna, Londt, Brandon, Robert Coleman, J“…COVI-VAC is attenuated through deletion of the furin cleavage site and introduction of 283 silent deoptimizing mutations that maintain viral amino acid sequence but result in significant attenuation due to slow translation in the human host cell. …”
Publicado 2021
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194705“…COVI-VAC is attenuated through removal of the furin cleavage site and introduction of 283 silent, deoptimizing mutations that maintain viral amino acid sequence but slow viral replication in vivo by up to 5 logs. …”
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194706por Hassan, Badrane, Cheng, Shaoji, Liu, Guojun, Clancy, Cornelius J, Nguyen, Minh-Hong“…Finally, comparison of non-synonymous mutations among intra-pt clones showed overwhelming overrepresentation of adhesin and adhesin-like genes, pointing to possible importance in host adaptation. …”
Publicado 2021
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194707por Xiang, Miao, Yang, Xiyue, Ren, Surong, Du, Huan, Geng, Lidan, Yuan, Li, Wen, Yixue, Lin, Binwei, Li, Jie, Zhang, Yu, Feng, Gang, Du, Xiaobo“…The primary endpoint was the objective response rate. Somatic mutations were not required for study enrollment. RESULTS: The median follow‐up time was 11.1 months. …”
Publicado 2021
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194708por Primo, Vincent A., Rezvani, Yasaman, Farrell, Andrew, Murphy, Connor Q., Lou, Jingjing, Vajdi, Amir, Marth, Gabor T., Zarringhalam, Kourosh, Gubbels, Marc-Jan“…Furthermore, lab adaptation was primarily driven by transcriptional reprogramming, which rejected the starting hypothesis that genetic mutations would drive lab adaptation. Overall, the work empirically shows that lab adaptation augments T. gondii’s in vitro virulence by transcriptional reprogramming and that E&R is a powerful new tool to map multigenic traits.…”
Publicado 2021
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194709“…Immunotherapy has a role in the treatment of bladder cancer (BC) due to these tumors’ high tumor mutational burden (TMB) and mostly prominent immune infiltrate. …”
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194710por Bond, Kyle H., Chiba, Takuto, Wynne, Kieran P. H., Vary, Calvin P. H., Sims-Lucas, Sunder, Coburn, Jeannine M., Oxburgh, Leif“…ABSTRACT: Clear cell renal cell carcinoma (ccRCC) is the most common kidney cancer and is often caused by mutations in the oxygen-sensing machinery of kidney epithelial cells. …”
Publicado 2021
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194711por Li, Wan-Chen, Lin, Ting-Chan, Chen, Chia-Ling, Liu, Hou-Cheng, Lin, Hisn-Nan, Chao, Ju-Lan, Hsieh, Cheng-Hsilin, Ni, Hui-Fang, Chen, Ruey-Shyang, Wang, Ting-Fang“…Substantial intraspecies and intragenus diversities are also discovered, including single nucleotide polymorphisms, chromosome shuffling, as well as genomic relics derived from historical transposition events and repeat-induced point (RIP) mutations.…”
Publicado 2021
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194712por Ruan, Dan-Yun, Chen, Yan-Xing, Wei, Xiao-Li, Wang, Ying-Nan, Wang, Zi-Xian, Wu, Hao-Xiang, Xu, Rui-Hua, Yuan, Shu-Qiang, Wang, Feng-Hua“…In multivariate analysis, bNLR and tumour mutational burden were independent prognostic factors of OS. …”
Publicado 2021
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194713por Liu, Xuzhong, Liu, Kun, Gui, Zeping, Feng, Dengyuan, Wang, Zijie, Zheng, Ming, Fei, Shuang, Chen, Hao, Sun, Li, Han, Zhijian, Ju, Xiaobing, Zhang, Hengcheng, Tan, Ruoyun, Gu, Min“…Furthermore, HK2 cells transfected with mutated plasmid of rs10975519 showed stronger mobility and migration ability. …”
Publicado 2021
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194714por Dauvergne, Maxime, Buob, David, Rafat, Cédric, Hennino, Marie-Flore, Lemoine, Mathilde, Audard, Vincent, Chauveau, Dominique, Ribes, David, Cornec-Le Gall, Emilie, Daugas, Eric, Pillebout, Evangéline, Vuiblet, Vincent, Boffa, Jean-Jacques“…An exploration of the alternative complement pathway performed in 10 cases (63%) did not identify mutations in genes that regulate the complement system. …”
Publicado 2021
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194715por Nietert, Manuel Manfred, Vinhoven, Liza, Auer, Florian, Hafkemeyer, Sylvia, Stanke, Frauke“…Background: Cystic fibrosis (CF) is a genetic disease caused by mutations in CFTR, which encodes a chloride and bicarbonate transporter expressed in exocrine epithelia throughout the body. …”
Publicado 2021
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194716por Abad, Cybele L., Bello, Jia An G., Cruz, Angela Beatriz, Danilovic, Aleksandra, Elias, Juan, Bremer, James W., Huang, Diana D.“…The ViroSeq HIV-1 Genotyping System v.3 and HIV-1 Integrase Genotyping Kit identified protease-reverse transcriptase and integrase drug resistance mutations (DRM). Sequence subtyping followed using the Stanford University Drug Resistance Database and the REGA HIV-1 Subtyping Tool v.3. …”
Publicado 2021
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194717por Snowdon, Jane L., Weeraratne, Dilhan, Huang, Hu, Brotman, David, Xue, Shang, Willis, Van C., Lee, Young Kyung, Jeon, Kibum, Zang, Dae Young, Kim, Hyo Jung, Kim, Ho Young, Han, Boram, Kim, Miyoung“…In those with AML, FLT3-internal tandem duplications or tyrosine kinase domain mutations were less frequent among Koreans than among Caucasians (6.7% vs 30.2%, P < .001) or Hispanics (6.7% vs 28.3%, P = .005), suggesting ethnic differences. …”
Publicado 2021
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194718“…Amino acid (aa) sequences of immunodominant epitopes in CA protein were well conserved while Major Homology Region (MHR) had more alteration showing unique mutations in sequences of subtypes A5 and A17. In contrast, aa sequences of surface glycoprotein exhibited higher variability confirming type-specific variation in the SU5 epitope. …”
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194719por Habibi, Nazima, Uddin, Saif, Behbehani, Montaha, Abdul Razzack, Nasreem, Zakir, Farhana, Shajan, Anisha“…These variations were predicted to create missense (16), synonymous (15), frameshift (1) and stop-gained (1) mutations with a high (2), low (15), and moderate (16) impact. …”
Publicado 2021
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194720“…Changes in clock control genes may be regulated through methylation, copy number, and mutations. Five rhythmic genes, including PER2, DBP, PER3, CRY2, and RORA, have significant prognostic role in patient survival in at least two types of kidney cancer. …”
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