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181“…Given this degree of conservation, it was long thought that mutations in CaM were incompatible with life. It was therefore a big surprise when the first CaM mutations in humans were identified six years ago. …”
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182por Sedwick, Caitlin“…JGP study examines how a mutation in KCNQ3 affects channel behavior.…”
Publicado 2019
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183Publicado 2003“…Viruses such as HIV and those that cause influenza have often been described as 'wily' because they mutate rapidly, a trait that helps them to evade drugs or the human immune system. …”
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184por Lee, Jong-KooEnlace del recurso
Publicado 2021
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185“…The toxins that some bacteria secrete to kill off rival species can also generate mutations that help toxin-resistant populations adapt to new environments.…”
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186“…Data from a long time evolution experiment with Escherichia Coli and from a large study on copy number variations in subjects with European ancestry are analyzed in order to argue that mutations can be described as Levy flights in the mutation space. …”
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187por Steinhaus, Robin, Proft, Sebastian, Schuelke, Markus, Cooper, David N, Schwarz, Jana Marie, Seelow, Dominik“…Here we present an update to MutationTaster, our DNA variant effect prediction tool. …”
Publicado 2021
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188“…Here, we discuss genomic regions prone to mutation, mechanisms contributing to mutation susceptibility, and the processes leading to their accumulation in normal and somatic genomes. …”
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189“…Somatic mutations are stochastic, de novo, non-inherited mutations. …”
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190“…We present a new method for model-based mutation-driven test case generation. Mutants are generated by making small syntactical modifications to the model or source code of the system under test. …”
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191“…We are rapidly discovering a growing number of mutations that occur in targetable pathways, and thus tumor genetic testing has become an important component in the choice of appropriate therapies. …”
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192“…Recent studies, however, have highlighted the impact of tubulin mutations on microtubule-associated proteins (MAPs). …”
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193por Pan, Minggui, Jiang, Chen, Zhang, Zheyang, Achacoso, Ninah, Solorzano-Pinto, Aleyda V., Tse, Pam, Chung, Elaine, Suga, Jennifer Marie, Thomas, Sachdev, Habel, Laurel A.“…SIMPLE SUMMARY: SMARCA4-mutated tumors are associated with poor prognosis. …”
Publicado 2023
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194por Pandey, Preeti, Panday, Shailesh Kumar, Rimal, Prawin, Ancona, Nicolas, Alexov, Emil“…Furthermore, it is demonstrated that some methods are sensitive to the chemical nature of the mutations, resulting in PCCs that differ by a factor of four across chemically different mutations. …”
Publicado 2023
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195por Yousef, Abdelrahman, Yousef, Mahmoud, Chowdhury, Saikat, Abdilleh, Kawther, Knafl, Mark, Edelkamp, Paul, Alfaro-Munoz, Kristin, Chacko, Ray, Peterson, Jennifer, Smaglo, Brandon G., Wolff, Robert A., Pant, Shubham, Lee, Michael S., Willis, Jason, Overman, Michael, Doss, Sudheer, Matrisian, Lynn, Hurd, Mark W., Snyder, Rebecca, Katz, Matthew H.G., Wang, Huamin, Maitra, Anirban, Shen, John Paul, Zhao, Dan“…The relevance of KRAS mutation alleles to clinical outcome remains inconclusive in pancreatic adenocarcinoma (PDAC). …”
Publicado 2023
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196“…Gorlin syndrome is a skeletal and tumorigenic disorder caused by gain-of-function mutations in Hh signaling. In this review, we first present the phenotype of Gorlin syndrome and the relationship between genotype and phenotype in bone and craniofacial tissues, including the causative gene as well as other Hh-related genes. …”
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197por Chen, Geng, Peng, Fang, Dong, Xiuqing, Cai, Zhixiong, Li, Zhenli, He, Lei, Hu, Jinpan, Deng, Xiaoxu, Guo, Yutong, Qiu, Liman, Zhou, Yang, Liu, Jingfeng, Zhang, Huqin, Liu, Xiaolong“…In the exploration dataset, we observed that plasma mutations with MVFC < 0.2 were enriched for tumor mutations identified in tumor tissues and had frequency changes that correlated with tumor burden; these plasma mutations were therefore defined as MVFC‐identified tumor mutations. …”
Publicado 2023
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198por Falcone, Rosa, Filetti, Marco, Lombardi, Pasquale, Altamura, Valeria, Paroni Sterbini, Francesco, Scambia, Giovanni, Daniele, Gennaro“…The median number of mutations in ARID1A(+) population was higher compared to ARID1A(–) population (6 vs. 4), as well as tumor mutational burden (TMB) [20 mutations/megabase (mut/Mb) vs. 1.26 mut/Mb]. …”
Publicado 2023
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199por Shi, Jin, Liu, Yuanyuan, Wu, Tuoya, Li, Lu, Han, Shujing, Peng, Xiao, Shang, Yuanyuan, Guo, Yongli, Pang, Yu, Gao, Mengqiu, Lu, Jie“…Notably, mmpR and pepQ mutations accounted for 83% and 17% of BDQ-induced spontaneous gene mutations, respectively, and 86% and 14% of CFZ-induced spontaneous gene mutations, respectively. …”
Publicado 2023
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200por Vokes, Natalie I., Galan Cobo, Ana, Fernandez-Chas, Margarita, Molkentine, David, Treviño, Santiago, Druker, Vitaly, Qian, Yu, Patel, Sonia, Schmidt, Stephanie, Hong, Lingzhi, Lewis, Jeff, Rinsurongkawong, Waree, Rinsurongkawong, Vadeerat, Lee, J. Jack, Negrao, Marcelo V., Gibbons, Don L., Vaporciyan, Ara, Le, Xiuning, Wu, Jia, Zhang, Jianjun, Rigney, Una, Iyer, Sonia, Dean, Emma, Heymach, John V.“…PURPOSE: Ataxia-telangiectasia mutated (ATM) is the most frequently mutated DNA damage repair gene in non–small cell lung cancer (NSCLC). …”
Publicado 2023
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