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194661por Kang, Yoon-Koo, George, Suzanne, Jones, Robin L., Rutkowski, Piotr, Shen, Lin, Mir, Olivier, Patel, Shreyaskumar, Zhou, Yongjian, von Mehren, Margaret, Hohenberger, Peter, Villalobos, Victor, Brahmi, Mehdi, Tap, William D., Trent, Jonathan, Pantaleo, Maria A., Schöffski, Patrick, He, Kevin, Hew, Paggy, Newberry, Kate, Roche, Maria, Heinrich, Michael C., Bauer, Sebastian“…Primary or secondary mutations in KIT or platelet-derived growth factor receptor alpha (PDGFRA) underlie tyrosine kinase inhibitor resistance in most GI stromal tumors (GISTs). …”
Publicado 2021
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194662“…RESULTS: Four overexpressed and mutated tumor antigens associated with poor prognosis and infiltration of antigen presenting cells were identified in glioma, including TP53, IDH1, C3, and TCF12. …”
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194663“…The most common genetic mutations were SPG4 and SPG3A. Of the patients with positive genetic tests, 40% had no family history of HSP. …”
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194664por Attia, Doaa HS, Dorgham, Dalia AH, El Maghraby, Ahmed A., Alkaffas, Marwa, Abdel Kawy, Mahitab A., Sherif, Mai M., Abdel Halim, Radwa M.“…The autoimmune regulator (AIRE) is a master regulator of self-tolerance development. AIRE mutations lead to the development of autoimmune polyglandular syndrome type 1 while AIRE polymorphisms have been linked to organ-specific autoimmunity. …”
Publicado 2021
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194665por Shibad, Varuna, Bootwala, Ali, Mao, Changchuin, Bader, Hanna, Vo, Hung, Landesman-Bollag, Esther, Guo, Conrad, Rubio, Angel, Near, Richard, Gao, Wenda, Challa, Sreekar, Chukka, Vennela, Gao, Jeffrey, Kelly, Avery, Landesman, Tamar, VanHelene, Tyler, Zhong, Xuemei“…Taken together, because of their ability to recognize common features of tumors that are independent of genetic mutations, L2pB1 cells and their nIgM could be potential candidates for cancer treatment that can overcome tumor heterogeneity-associated drug resistance.…”
Publicado 2021
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194666por Zhang, Rutan, Barreras Beltran, Ismael A., Ashford, Nathaniel K., Penewit, Kelsi, Waalkes, Adam, Holmes, Elizabeth A., Hines, Kelly M., Salipante, Stephen J., Xu, Libin, Werth, Brian J.“…Interestingly N315-D1 and N315-DAL0.5 both had mutations in vraTSR and walKR despite their differences in the seesaw effect. …”
Publicado 2021
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194667por Usman, Saima, Waseem, Naushin H., Nguyen, Thuan Khanh Ngoc, Mohsin, Sahar, Jamal, Ahmad, Teh, Muy-Teck, Waseem, Ahmad“…Several missense and frameshift mutations reported in vimentin in human cancers may also contribute towards the metastatic spread. …”
Publicado 2021
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194668por Smith, Stephanie, Salvato, Fernanda, Garikipati, Aditi, Kleiner, Manuel, Septer, Alecia N.“…A transposon screen identified seven mutants that could not activate the reporter. These mutations mapped exclusively to three genes on the T6SS-containing GI that encode two essential structural proteins (a TssA-like protein and TssM) and a transcriptional regulator (TasR). …”
Publicado 2021
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194669por Janssens, Julie, Blokken, Jolien, Lampi, Yulia, De Wit, Flore, Zurnic Bonisch, Irena, Nombela, Ivan, Van de Velde, Paulien, Van Remoortel, Barbara, Gijsbers, Rik, Christ, Frauke, Debyser, Zeger“…Although this approach failed to generate full knockouts, monoallelic knockout clones were generated with indel mutations. HIV-1 replication was hampered in those clones at the level of HIV-1 nuclear import without an effect on the cellular distribution of the TRN-SR2 cargoes CPSF6 or alternative splicing factor1/pre-mRNA splicing factor SF2 (ASF/SF2). …”
Publicado 2021
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194670por Chai, Dongqi, Zhang, Lilong, Guan, Yongjun, Yuan, Jingping, Li, Man, Wang, Weixing“…Analysis of the association between MRGBP and prognosis using Kaplan-Meier survival curve and COX analysis. The data of Tumor mutational burden (TMB), microsatellite instability (MSI) from TCGA. …”
Publicado 2021
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194671por Li, Shan, Hanlon, Regina, Wise, Hua, Pal, Narinder, Brar, Hargeet, Liao, Chunyu, Gao, Hongyu, Perez, Eli, Zhou, Lecong, Tyler, Brett M., Bhattacharyya, Madan K.“…GmPUB1-1, and a homeologous copy GmPUB1-2, are induced by infection and encode 403 amino acid proteins with U-Box domains at their N-termini. Non-synonymous mutations in the Avr1b C-terminus that abolish suppression of cell death also abolished the interaction of Avr1b with GmPUB1-1, while deletion of the GmPUB1-1 C-terminus, but not the U box, abolished the interaction. …”
Publicado 2021
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194672por Bajpai, Jyoti, Ventrapati, Pradeep, Joshi, Shalaka, Wadasadawala, Tabassum, Rath, Sushmita, Pathak, Rima, Nandhana, Ravindra, Mohanty, Samarpita, Chougle, Qurratulain, Engineer, Mitchelle, Abraham, Nissie, Ghosh, Jaya, Nair, Nita, Gulia, Seema, Popat, Palak, A, Patil, Sheth, Tanuja, Desai, Sangeeta, Thakur, Meenakshi, Rangrajan, Venkatesh, Parmar, Vani, Sarin, R., Gupta, S., Badwe, R.A.“…On multivariate analysis, TNBC and HER-2+ subgroups had poorer survival (p = 0.0035). 25 patients had BRCA mutations with a 5-year DFS of 65.1% (95% CI:43.6–86.6). …”
Publicado 2021
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194673por Pelloquin, Bethanie, Kristan, Mojca, Edi, Constant, Meiwald, Anne, Clark, Emma, Jeffries, Claire L., Walker, Thomas, Dada, Nsa, Messenger, Louisa A.“…IMPORTANCE Control of insecticide-resistant vector populations remains a significant challenge to global malaria control and while substantial progress has been made elucidating key target site mutations, overexpressed detoxification enzymes and alternate gene families, the contribution of the mosquito microbiota to phenotypic insecticide resistance has been largely overlooked. …”
Publicado 2021
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194674por Umviligihozo, Gisele, Muok, Erick, Nyirimihigo Gisa, Emmanuel, Xu, Rui, Dilernia, Dario, Herard, Kimberley, Song, Heeyah, Qin, Qianhong, Bizimana, Jean, Farmer, Paul, Hare, Jonathan, Gilmour, Jill, Allen, Susan, Karita, Etienne, Hunter, Eric, Yue, Ling“…While major drug resistance mutations were absent from Protocol C viruses, 4/21 of recent isolates exhibited transmitted nevirapine resistance. …”
Publicado 2021
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194675por Diociaiuti, Andrea, Paolantonio, Guglielmo, Zama, Mario, Alaggio, Rita, Carnevale, Claudia, Conforti, Andrea, Cesario, Claudia, Dentici, Maria Lisa, Buonuomo, Paola Sabrina, Rollo, Massimo, El Hachem, May“…Complex vascular malformations are mostly mosaicism due to early somatic mutations. Genetic advances have led to identify the main pathogenic pathways involved in this disease group. …”
Publicado 2021
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194676por Shuai, Huiping, Chan, Jasper Fuk-Woo, Yuen, Terrence Tsz-Tai, Yoon, Chaemin, Hu, Jing-Chu, Wen, Lei, Hu, Bingjie, Yang, Dong, Wang, Yixin, Hou, Yuxin, Huang, Xiner, Chai, Yue, Chan, Chris Chung-Sing, Poon, Vincent Kwok-Man, Lu, Lu, Zhang, Rui-Qi, Chan, Wan-Mui, Ip, Jonathan Daniel, Chu, Allen Wing-Ho, Hu, Ye-Fan, Cai, Jian-Piao, Chan, Kwok-Hung, Zhou, Jie, Sridhar, Siddharth, Zhang, Bao-Zhong, Yuan, Shuofeng, Zhang, Anna Jinxia, Huang, Jian-Dong, To, Kelvin Kai-Wang, Yuen, Kwok-Yung, Chu, Hin“…Emerging SARS-CoV-2 variants, including B.1.1.7, B.1.351, P.1, and P.3, contain mutations in spike that has been suggested to associate with an increased recognition of mouse ACE2, raising the postulation that these SARS-CoV-2 variants may have evolved to expand species tropism to wildtype mouse and potentially other murines. …”
Publicado 2021
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194677por Prakash, Amol, Taylor, Lorne, Varkey, Manu, Hoxie, Nate, Mohammed, Yassene, Goo, Young Ah, Peterman, Scott, Moghekar, Abhay, Yuan, Yuting, Glaros, Trevor, Steele, Joel R., Faridi, Pouya, Parihari, Shashwati, Srivastava, Sanjeeva, Otto, Joseph J., Nyalwidhe, Julius O., Semmes, O. John, Moran, Michael F., Madugundu, Anil, Mun, Dong Gi, Pandey, Akhilesh, Mahoney, Keira E., Shabanowitz, Jeffrey, Saxena, Satya, Orsburn, Benjamin C.“…Finally, we report fivefold more somatic and germline variants that have an independent evidence at the peptide level, including mutations in ERRB2 and BCAS1. In this reanalysis of CPTAC proteomic data with cloud computing, we present an openly available and searchable web resource of the highest-coverage proteomic profiling of human tumors described to date.…”
Publicado 2021
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194678por Zhou, Sitong, Han, Yuanyuan, Li, Jiehua, Pi, Xiaobing, Lyu, Jin, Xiang, Shijian, Zhou, Xinzhu, Chen, Xiaodong, Wang, Zhengguang, Yang, Ronghua“…All 10 hub genes had mutations in skin tissue. Furthermore, CMap analysis identified cefamandole, ursolic acid, podophyllotoxin, and Gly-His-Lys as four targeted therapy drugs that may be effective treatments for SKCM. …”
Publicado 2021
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194679“…Current molecular diagnostic tools detect the most common antibiotic-resistance-conferring mutations in the form of single nucleotide changes, small deletions, or insertions. …”
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194680por Lorencik, Katarzyna, Ekiert, Robert, Zhu, Yongtao, McBride, Mark J., Gennis, Robert B., Sarewicz, Marcin, Osyczka, Artur“…To understand how ACIII interacts functionally with its protein partners, we developed a genetic system to mutate the Flavobacterium johnsoniae genes encoding ACIII subunits. …”
Publicado 2021
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