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196621por Allen, James R., Torres-Acosta, Mario A., Mohan, Naresh, Lye, Gary J., Ward, John M.“…While structural stability refers to the capability of a cell to resist genetic mutations that bring about a loss of gene function in a production pathway, segregational stability refers to the capability of a cell to correctly distribute plasmids into daughter cells to maintain copy number. …”
Publicado 2022
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196622por Foster, Evangeline M., Fernandes, Marco, Dangla-Valls, Adria, Hublitz, Philip, Pangalos, Menelaos, Lovestone, Simon, Ribe, Elena M., Buckley, Noel J.“…Studies have demonstrated that the trafficking and localisation of glycosylated CLU proteins is altered by CLU-AD mutations and amyloid-β (Aβ), which may contribute to AD pathogenesis. …”
Publicado 2022
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196623por Zeng, Zhenhao, He, Wenrui, Jiang, Yi, Jiang, Hao, Cheng, Xiaofeng, Deng, Wen, Zhou, Xiaochen, Zhang, Cheng, Wang, Gongxian“…We also found that CDK12 and TP53 mutations were associated with MAPK8IP2 expression. …”
Publicado 2022
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196624por Lequeue, Sien, Neuckermans, Jessie, Nulmans, Ine, Schwaneberg, Ulrich, Vanhaecke, Tamara, De Kock, Joery“…HGD’s quaternary structure is known to be easily disrupted by missense mutations, which makes them an interesting target for novel treatment strategies that aim to rescue enzyme activity. …”
Publicado 2022
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196625por Jacobsen, Henning, Strengert, Monika, Maaß, Henrike, Ynga Durand, Mario Alberto, Katzmarzyk, Maeva, Kessel, Barbora, Harries, Manuela, Rand, Ulfert, Abassi, Leila, Kim, Yeonsu, Lüddecke, Tatjana, Metzdorf, Kristin, Hernandez, Pilar, Ortmann, Julia, Heise, Jana-Kristin, Castell, Stefanie, Gornyk, Daniela, Glöckner, Stephan, Melhorn, Vanessa, Kemmling, Yvonne, Lange, Berit, Dulovic, Alex, Marsall, Patrick, Häring, Julia, Junker, Daniel, Schneiderhan-Marra, Nicole, Hoffmann, Markus, Pöhlmann, Stefan, Krause, Gérard, Cicin-Sain, Luka“…SARS-CoV-2 variants accumulating immune escape mutations provide a significant risk to vaccine-induced protection against infection. …”
Publicado 2022
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196626por Zheng, Xinlong, Jiang, Kan, Xiao, Weijin, Zeng, Dongqiang, Peng, Wenying, Bai, Jing, Chen, Xiaohui, Li, Pansong, Zhang, Longfeng, Zheng, Xiaobin, Miao, Qian, Wang, Haibo, Wu, Shiwen, Xu, Yiquan, Xu, Haipeng, Li, Chao, Li, Lifeng, Gao, Xuan, Zheng, Suya, Li, Junhui, Wang, Deqiang, Zhou, Zhipeng, Xia, Xuefeng, Yang, Shanshan, Li, Yujing, Cui, Zhaolei, Zhang, Qiuyu, Chen, Ling, Lin, Xiandong, Lin, Gen“…Within most cohorts, there was no clear evidence for an association between CFR and programmed death-ligand 1 (PD-L1) or tumor mutational burden (TMB). Compared with TMB and PD-L1, a higher correlation coefficient was observed between CFR and the ORR following pembrolizumab monotherapy in 20 solid tumor types (Spearman’s r = 0.69 vs. 0.44 and 0.21). …”
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196627por Li, Mei, Zheng, Yanan, Li, Xujun, Shen, Xiaohan, Zhang, Tingxia, Weng, Bowen, Mao, Haijiao, Zhao, Jiyuan“…ATBF1, a large transcription factor, has been considered a tumor suppressor gene with frequent mutations or deletions in multiple cancers. In breast cancer, ATBF1 was reported to function in cell differentiation and mammary development. …”
Publicado 2022
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196628por Stubbs, Felicity E., Flynn, Benjamin P., Rivers, Caroline A., Birnie, Matthew T., Herman, Andrew, Swinstead, Erin E., Baek, Songjoon, Fang, Hai, Temple, Jillian, Carroll, Jason S., Hager, Gordon L., Lightman, Stafford L., Conway-Campbell, Becky L.“…ARID1a (BAF250), a component of human SWI/SNF chromatin remodeling complexes, is frequently mutated across numerous cancers, and its loss of function has been putatively linked to glucocorticoid resistance. …”
Publicado 2022
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196629por Staudt, Dilana E., Murray, Heather C., Skerrett-Byrne, David A., Smith, Nathan D., Jamaluddin, M. Fairuz B., Kahl, Richard G. S., Duchatel, Ryan J., Germon, Zacary P., McLachlan, Tabitha, Jackson, Evangeline R., Findlay, Izac J., Kearney, Padraic S., Mannan, Abdul, McEwen, Holly P., Douglas, Alicia M., Nixon, Brett, Verrills, Nicole M., Dun, Matthew D.“…Bioinformatic analysis identified differential activation of the serine/threonine protein kinase ataxia-telangiectasia mutated (ATM) pathway, responsible for sensing and repairing DNA damage in sorafenib-resistant AML cell line models, thereby uncovering a potential therapeutic opportunity. …”
Publicado 2022
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196630por Jarred, Ellen G., Qu, Zhipeng, Tsai, Tesha, Oberin, Ruby, Petautschnig, Sigrid, Bildsoe, Heidi, Pederson, Stephen, Zhang, Qing-hua, Stringer, Jessica M., Carroll, John, Gardner, David K., Van den Buuse, Maarten, Sims, Natalie A., Gibson, William T., Adelson, David L., Western, Patrick S.“…In addition, de novo germline mutations in genes encoding PRC2 lead to overgrowth syndromes in human patients, but the extent to which PRC2 activity is conserved in human oocytes is poorly understood. …”
Publicado 2022
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196631por Ghorbani, Atefeh, Khataeipour, S. Javad, Solbakken, Monica H., Huebert, David N. G., Khoddami, Minasadat, Eslamloo, Khalil, Collins, Cassandra, Hori, Tiago, Jentoft, Sissel, Rise, Matthew L., Larijani, Mani“…BACKGROUND: Antibody affinity maturation in vertebrates requires the enzyme activation-induced cytidine deaminase (AID) which initiates secondary antibody diversification by mutating the immunoglobulin loci. AID-driven antibody diversification is conserved across jawed vertebrates since bony and cartilaginous fish. …”
Publicado 2022
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196632por Dai, Jie, Bai, Xue, Gao, Xuan, Tang, Lirui, Chen, Yu, Sun, Linzi, Wei, Xiaoting, Li, Caili, Qi, Zhonghui, Kong, Yan, Cui, Chuanliang, Chi, Zhihong, Sheng, Xinan, Xu, Zelong, Lian, Bin, Li, Siming, Yan, Xieqiao, Tang, Bixia, Zhou, Li, Wang, Xuan, Xia, Xuefeng, Guo, Jun, Mao, Lili, Si, Lu“…Genomic sequencing analysis revealed that the genomic aberration landscape of PMME predominated in classical cancer driver genes, with approximately half of PMME cases harboring mutations in BRAF, N/KRAS, and NF1. In contrast, most NEMM cases were triple wild-type. …”
Publicado 2023
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196633por El Dika, Imane, Shia, Jinru, Chen, Carol L., Paroder, Viktoriya, Carver, Alan, Shamseddine, Ali, Mukherji, Deborah, Sirohi, Bhawna, Makondi, Precious Takondwa, Asseily, Clara, Matar, Charbel F., Elias, Rawad, Slater, Emily, Rosenbaum, Marlon Steven, Paramesawaran, Rekha, Breitbart, William, Abou-Alfa, Ghassan K.“…Next generation sequencing of the tumor revealed TP53 and FGFR2 mutations. By then patient was also found to have lung metastasis. …”
Publicado 2022
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196634por Leboulanger, Nicolas, Bisdorff, Annouk, Boccara, Olivia, Dompmartin, Anne, Guibaud, Laurent, Labreze, Christine, Lagier, Jacques, Lebrun-Vignes, Bénédicte, Herbreteau, Denis, Joly, Aline, Malloizel-Delaunay, Julie, Martel, Arnaud, Munck, Stéphane, Saint-Aubin, Frédérique, Maruani, Annabel“…A biopsy, coupled to a blood sample, can also be used for molecular biology analyses, to search for activating mutations of the PIK3CA gene, particularly with LM integrating in a syndromic form (CLOVES or Klippel-Trenaunay syndrome) but also in certain isolated (or common) LMs. …”
Publicado 2023
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196635por Liu, Hongbo, Lin, Xiuqin, Li, Xujuan, Luo, Ziliang, Lu, Xin, You, Qian, Yang, Xiping, Xu, Chaohua, Liu, Xinlong, Liu, Jiayong, Wu, Caiwen, Wang, Jianping“…Haplotypes potentially associated with high sucrose synthesis efficiency were identified. The mutations of SPSB haplotypes in HS were favorable and tended to be selected and fixed. …”
Publicado 2023
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196636por Gao, Lingling, Ying, Feiquan, Cai, Jing, Peng, Minggang, Xiao, Man, Sun, Si, Zeng, Ya, Xiong, Zhoufang, Cai, Liqiong, Gao, Rui, Wang, Zehua“…RESULTS: The somatic mutations and copy number variation (CNV) of 51 PYRGs in OC samples were clarified. …”
Publicado 2023
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196637por Hsieh, Chang-Heng, Chou, Chia-Cheng, Fang, Ya-Ching, Hsu, Po-Hao, Chiu, Yi-Hung, Yang, Chi-Sheng, Jow, Guey-Mei, Tang, Chih-Yung, Jeng, Chung-Jiuan“…BACKGROUND: Mutations in the human gene encoding the neuron-specific Eag1 (K(V)10.1; KCNH1) potassium channel are linked to congenital neurodevelopmental diseases. …”
Publicado 2023
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196638por Kampmeier, Antje, Leitão, Elsa, Parenti, Ilaria, Beygo, Jasmin, Depienne, Christel, Bramswig, Nuria C, Hsieh, Tzung-Chien, Afenjar, Alexandra, Beck-Wödl, Stefanie, Grasshoff, Ute, Haack, Tobias B, Bijlsma, Emilia K, Ruivenkamp, Claudia, Lausberg, Eva, Elbracht, Miriam, Haanpää, Maria K, Koillinen, Hannele, Heinrich, Uwe, Rost, Imma, Jamra, Rami Abou, Popp, Denny, Koch-Hogrebe, Margarete, Rostasy, Kevin, López-González, Vanesa, Sanchez-Soler, María José, Macedo, Catarina, Schmetz, Ariane, Steinborn, Carmen, Weidensee, Sabine, Lesmann, Hellen, Marbach, Felix, Caro, Pilar, Schaaf, Christian P., Krawitz, Peter, Wieczorek, Dagmar, Kaiser, Frank J, Kuechler, Alma“…Our findings expand the mutational and clinical spectrum of CHUJANS. We discuss the molecular and clinical features in comparison to the published individuals. …”
Publicado 2023
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196639“…The combined biological process, cellular components and molecular function ontology are reflected in the GO analysis and six functional enrichments in KEGG annotation, suggesting advantageous mutations during species evolution. CONCLUSIONS: Our study gives a comparative characterization of the genomes of microsatellites composition in the two bat species. …”
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196640“…Experiments were conducted on a public drug response data set with multiple omics data (somatic point mutations, somatic copy number profiles and gene expression profiles) that was obtained from cell lines, patient-derived xenografts, and patient samples. …”
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