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195001por Kang, Jiawen, Xiang, Xiaoqing, Chen, Xiaoyan, Jiang, Jingwen, Zhang, Yong, Li, Lesai, Tang, Jie“…Patients in the high-AGS group in both the train, test and the validation sets had a worse prognosis than those in the low-AGS group, had lower expression of most immune checkpoint-associated genes and lower tumor mutational burden as well. Patients in the low-AGS group were more sensitive to AMG.706, Bosutinib, and Lenalidomide while Imatinib, Pazopanib, and Sorafenib were more recommended to patients in the high-AGS group. …”
Publicado 2023
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195002por Wang, Hao, Tian, Ruo-Fei, Liang, Xue, Fan, Jing, Duan, Zi-Chuan, Fan, Xin-Yu, Zhang, Jia-Jia, Yao, Dong-Sheng, Chen, Zhi-Nan, Li, Ling“…The frequency of genetic mutations was also significantly higher in high risk groups than that in low risk groups. …”
Publicado 2023
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195003por Cheng, Nana, Liu, Mingzhu, Li, Wanting, Sun, BingYue, Liu, Dandan, Wang, Guoqing, Shi, Jingwei, Li, Lisha“…On the whole, PTMs have fundamental roles in virus entry, replication, particle assembly, and host immune response. Mutations in various SARS-CoV-2 variants, which lead to changes in PTMs at corresponding sites, cause different biological effects. …”
Publicado 2023
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195004por Rebecca, Vito W., Xiao, Min, Kossenkov, Andrew, Godok, Tetiana, Brown, Gregory Schuyler, Fingerman, Dylan, Alicea, Gretchen M., Wei, Meihan, Ji, Hongkai, Bravo, Jeremy, Chen, Yeqing, Fane, Mitchell E., Villanueva, Jessie, Nathanson, Katherine, Liu, Qin, Gopal, Y. N. Vashisht, Davies, Michael A., Herlyn, Meenhard“…We here test the robustness of the umbrella trial rationale by analyzing relationships between genomic status of a gene and the downstream consequences at the protein level of related pathway, which find poor relationships between mutations, copy number amplification, and protein level. …”
Publicado 2023
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195005por Keyl, Julius, Hosch, René, Berger, Aaron, Ester, Oliver, Greiner, Tobias, Bogner, Simon, Treckmann, Jürgen, Ting, Saskia, Schumacher, Brigitte, Albers, David, Markus, Peter, Wiesweg, Marcel, Forsting, Michael, Nensa, Felix, Schuler, Martin, Kasper, Stefan, Kleesiek, Jens“…Body composition parameters did not correlate with KRAS mutational status or primary tumour sidedness. A prediction model based on MBR, liver metastasis surface area and primary tumour sidedness achieved a concordance index of 0.69. …”
Publicado 2022
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195006por Hanai, Ayako, Kawabata, Ayako, Nakajima, Kenta, Masuda, Kazuhiro, Urakawa, Itaru, Abe, Masahiro, Yamazaki, Yuji, Fukumoto, Seiji“…Furthermore, box-and-whisker plots indicated that Fgf23 expression was observed in osteocytes with higher expression levels of the Fam20c, Dmp1, and Phex genes, whose inactivating mutations have been shown to cause FGF23-related hypophosphatemic diseases. …”
Publicado 2023
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195007por Andrés-Zayas, Cristina, Suárez-González, Julia, Chicano-Lavilla, María, Bastos Oreiro, Mariana, Rodríguez-Macías, Gabriela, Font López, Patricia, Osorio Prendes, Santiago, Oarbeascoa Royuela, Gillen, García Ramírez, Patricia, Nieves Salgado, Rocío, Gómez-Centurión, Ignacio, Carbonell Muñoz, Diego, Muñiz, Paula, Kwon, Mi, Díez-Martín, José Luis, Buño, Ismael, Martínez-Laperche, Carolina“…Overall, whole exome sequencing is a useful approach to achieve a further characterization of these patients and their mutational spectra. Moreover, further investigations may help improve optimization for disease management of affected patients and their families.…”
Publicado 2023
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195008por Hortal, Alejandro, Lacuna, Marta, Cifuentes, Claudia, Alcoceba, Miguel, Bustelo, Xosé R., González, Marcos, Alarcón, Balbino“…ABSTRACT: Unlike classical RAS genes, oncogenic mutations on RRAS2 are seldomly found in human cancer. …”
Publicado 2023
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195009por Opazo-Toro, Valeria, Fortuna, Virginia, Jiménez, Wladimiro, Pazos López, Marta, Royo, María Jesús Muniesa, Ventura-Abreu, Néstor, Brunet, Mercè, Milla, Elena“…Poor response to treatment and more visual field damage may be associated with being a carrier of these mutated alleles.…”
Publicado 2023
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195010por Azizogli, Abdul-Rahman, Pai, Varun, Coppola, Francesco, Jafari, Roya, Dodd-o, Joseph B., Harish, Rohan, Balasubramanian, Bhavani, Kashyap, Jatin, Acevedo-Jake, Amanda M., Král, Petr, Kumar, Vivek A.“…[Image: see text] The human Betacoronavirus SARS-CoV-2 is a novel pathogen claiming millions of lives and causing a global pandemic that has disrupted international healthcare systems, economies, and communities. The virus is fast mutating and presenting more infectious but less lethal versions. …”
Publicado 2023
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195011por Timoshina, Olga Y., Kasimova, Anastasiya A., Shneider, Mikhail M., Arbatsky, Nikolay P., Shashkov, Alexander S., Shelenkov, Andrey A., Mikhailova, Yuliya V., Popova, Anastasiya V., Hall, Ruth M., Knirel, Yuriy A., Kenyon, Johanna J.“…However, resistance can arise via mutations in CPS genes that abolish this phage receptor. …”
Publicado 2023
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195012por Qian, Changrui, Zhang, Siqin, Xu, Mengxin, Zeng, Weiliang, Chen, Lijiang, Zhao, Yining, Zhou, Cui, Zhang, Ying, Cao, Jianming, Zhou, Tieli“…We also detected the loss of mucoviscosity mediated by mutations and ISKpn14 insertion in rmpA, and the latter representing a novel mechanism by which bacteria regulate RmpA system. …”
Publicado 2023
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195013por Thapaliya, Bishal, Ray, Bhaskar, Farahdel, Britny, Suresh, Pranav, Sapkota, Ram, Holla, Bharath, Mahadevan, Jayant, Chen, Jiayu, Vaidya, Nilakshi, Perrone-Bizzozero, Nora, Benegal, Vivek, Schumann, Gunter, Calhoun, Vince D., Liu, Jingyu“…Our findings provide evidence of consistent environmental impact from early life stress and school risks on anxiety and depression during development and also highlight the genetic association between mutations in potassium channels along with the potential role of the cerebellum region, which are worthy of further investigation.…”
Publicado 2023
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195014por Miranda Baleiras, Mafalda, Dias Domingues, Tiago, Severino, Eduardo, Vasques, Carolina, Neves, Maria Teresa, Ferreira, André, Vasconcelos de Matos, Leonor, Ferreira, Filipa, Miranda, Helena, Martins, Ana“…Additionally, T2DM patients had more high-risk pathological features, including G3 grading tumors (27.7% vs. 12.0%; p = 0.01), lymph node involvement (p < 0.01), BRAF-mutated (35.1% vs. 6.8%; p < 0.01), and right-sided CRC (63.0% vs. 30.1%; p < 0.01). …”
Publicado 2023
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195015por Nuvunga, Samuel, Langa, Denise Chitsondzo, Baltazar, Cynthia Semá, Sacarlal, Jahit, Rossetto, Erika, Vubil, Adolfo“…World Health Organization (WHO) recommended that countries implement and routinely evaluate representative HIV drug resistance (HIVDR) research to monitor the emergency and transmission of HIV drug resistance mutations. This study aimed to describe the functioning of the system and also to identify gaps in the sensitivity, representativeness and quality of the data using the WHO methodology for Pre-Treatment and Acquired Approaches. …”
Publicado 2022
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195016por Sinha, Mayank Kumar, Aski, Muraleedhar S., Mishra, Gyan Prakash, Kumar, M. B. Arun, Yadav, Prachi S., Tokas, Jayanti P., Gupta, Sanjeev, Pratap, Aditya, Kumar, Shiv, Nair, Ramakrishnan M., Schafleitner, Roland, Dikshit, Harsh Kumar“…Moreover, two genes Vradi07g15310 and Vradi09g05480 showed significant variation in protein structure between native and mutated versions. The identified SNPs and candidate genes are potential powerful tools to provide the essential information for genetic studies and marker-assisted breeding program for nutritional improvement in mungbean.…”
Publicado 2023
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195017por Block, Alisha M., Namugenyi, Sarah B., Palani, Nagendra P., Brokaw, Alyssa M., Zhang, Leanne, Beckman, Kenneth B., Tischler, Anna D.“…One factor that contributes to the length of TB treatment is M. tuberculosis phenotypic antibiotic tolerance, which allows the bacteria to survive prolonged drug exposure even in the absence of genetic mutations causing drug resistance. Here, we report a genetic screen to identify M. tuberculosis genes that promote drug tolerance during nutrient starvation. …”
Publicado 2023
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195018por Wen, Peizhen, Wang, Rui, Xing, Yiqun, Ouyang, Wanxin, Yuan, Yixin, Zhang, Shuaishuai, Liu, Yuan, Peng, Zhihai“…In addition, we comprehensively analyzed immune cell infiltration (using seven algorithms), response to immune checkpoint blockade, clinical relevance, survival, mutations, mRNA expression-based stemness index, signaling pathways, and interacting proteins related to the three core genes of the prognostic model (AGPAT5, LCLAT1, and LPCAT1). …”
Publicado 2023
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195019por Urwanisch, Laura, Unger, Michael Stefan, Sieberer, Helene, Dang, Hieu-Hoa, Neuper, Theresa, Regl, Christof, Vetter, Julia, Schaller, Susanne, Winkler, Stephan M., Kerschbamer, Emanuela, Weichenberger, Christian X., Krenn, Peter W., Luciano, Michela, Pleyer, Lisa, Greil, Richard, Huber, Christian G., Aberger, Fritz, Horejs-Hoeck, Jutta“…SIMPLE SUMMARY: Epigenetic alterations strongly contribute to the development of various types of cancer, including blood cancers such as acute myeloid leukemia (AML). Unlike genetic mutations, epigenetic changes in cancer are reversible. …”
Publicado 2023
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195020“…Patients carrying inactivating mutations in the Von Hippel-Lindau (VHL) gene have an increased proclivity to develop several types of tumors including ccRCC. …”
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