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4081por Zhou, Qing, Xue, Caiqiang, Man, Jiangwei, Zhang, Peng, Ke, Xiaoai, Zhao, Jun, Zhang, Bin, Zhou, Junlin“…METHODS: Data from 140 in patients with isocitrate dehydrogenase (IDH) wild-type Gb diagnosed via histopathology and molecular diagnosis in the Second Hospital of Lanzhou University from January 2018 to April 2022 were collected in this retrospective, cross-sectional study. …”
Publicado 2023
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4082“…None of the patients were found with elevated metanephrine 100 timesthat of upper reference limit.Genetictesting showed pathogenic variants in SDHB in 22 (52.4%), SDHA in2 (4.7%), NF1 in 2 (4.7%), VHL in 1 (2.3%), IDH1 in 1 (2.3%),and apparently sporadic disease in 12 (28.6%) patients, respectively. …”
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4083por Ma, Ning, Xu, Hao, Zhang, Weihua, Sun, Xiaoke, Guo, Ruiming, Liu, Donghai, Zhang, Liang, Liu, Yang, Zhang, Jian, Qiao, Chenhui, Chen, Dong, Luo, Ailing, Bai, Jingyun“…In addition, nine DE RBP genes were validated, including Eif5, Pdia6, Tagln2, Vasp, Zfp36l2, Grsf1, Idh2, Ndrg2, and Uqcrc1. These nine DE RBPs were correlated with RASGs enriched in translation process, cell growth and division, and endocytosis pathways, highly consistent with the functions of all RASGs. …”
Publicado 2023
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4084por Lee, Jonathan J., Sholl, Lynette M., Lindeman, Neal I., Granter, Scott R., Laga, Alvaro C., Shivdasani, Priyanka, Chin, Gary, Luke, Jason J., Ott, Patrick A., Hodi, F. Stephen, Mihm, Martin C., Lin, Jennifer Y., Werchniak, Andrew E., Haynes, Harley A., Bailey, Nancy, Liu, Robert, Murphy, George F., Lian, Christine G.“…Of the 40 most commonly mutated genes, 12 (30.0 %) encoded epigenetic regulators, including genes encoding enzymes involved in histone modification (MECOM, MLL2, SETD2), chromatin remodeling (ARID1B, ARID2), and DNA methylation and demethylation (TET2, IDH1). Among the 38 patient melanoma samples, 35 (92.1 %) harbored at least one mutation in an epigenetic regulator. …”
Publicado 2015
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4085por Favreau, Amanda J., McGlauflin, Rose E., Duarte, Christine W., Sathyanarayana, Pradeep“…Significant correlations in terms of association and survival outcomes were observed for NPMc and IDH1 mutations. Treatment of THP-1 cells (represents M5-subtype) with HDAC inhibitors AR-42, Panobinostat, or Decitabine showed miR-199b expression was significantly elevated upon AR-42 and Panobinostat treatment. …”
Publicado 2016
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4086por Baumert, Brigitta G., Hegi, Monika E., van den Bent, Martin J., von Deimling, Andreas, Gorlia, Thierry, Hoang-Xuan, Khê, Brandes, Alba A., Kantor, Guy, Taphoorn, Martin J.B., Hassel, Mohamed Ben, Hartmann, Christian, Ryan, Gail, Capper, David, Kros, Johan M., Kurscheid, Sebastian, Wick, Wolfgang, Enting, Roelien, Reni, Michele, Thiessen, Brian, Dhermain, Frederic, Bromberg, Jacoline E., Feuvret, Loic, Reijneveld, Jaap C., Chinot, Olivier, Gijtenbeek, Johanna M. M., Rossiter, John P., Dif, Nicolas, Balana, Carmen, Bravo-Marques, Jose, Clement, Paul M., Marosi, Christine, Tzuk-Shina, Tzahala, Nordal, Robert A., Rees, Jeremy, Lacombe, Denis, Mason, Warren P., Stupp, Roger“…Primary clinical endpoint was progression-free survival (PFS), correlative analyses included molecular markers (1p/19q co-deletion, MGMT methylation status, IDH1+2 mutations). The trial has been registered at the European Trials Registry (EudraCT 2004-002714-11) and at ClinicalTrials.gov (NCT00182819). …”
Publicado 2016
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4087por Greer, Liana, Pannullo, Susan C., Smith, Andrew W, Taube, Shoshana, Yondorf, Menachem Z, Parashar, Bhupesh, Trichter, Samuel, Nedialkova, Lucy, Sabbas, Albert, Christos, Paul, Wernicke, A. Gabriella“…Of the 19 patients tested for isocitrate dehydrogenase-1 (IDH), 100% were negative. Of the eight patients who had MGMT methylation status results, four (50%) were positive for O(6)-methylguanine-DNA methyltransferase (MGMT) methylation. …”
Publicado 2017
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4088“…Compared with the mammary gland of AH-fed cows, the marked expression changes found in the mammary gland of CS group were for genes involved in reduced mammary growth/development (COL4A2, MAPK3, IKBKB, LGALS3), less oxidative phosphorylation (ATPsynGL, ATP6VOA1, ATP5H, ATP6VOD1, NDUFC1), enhanced lipid uptake/metabolism (SLC27A6, FABP4, SOD2, ACADM, ACAT1, IDH1, SCP2, ECHDC1), more active fatty acid beta-oxidation (HMGCS1), less amino acid/protein transport (SLC38A2, SLC7A8, RAB5a, VPS18), reduced protein translation (RPS6, RPS12, RPS16, RPS19, RPS20, RPS27), more proteasome- (PSMC2, PSMC6, PSMD14, PSMA2, PSMA3) and ubiquitin-mediated protein degradation (UBE2B, UBE2H, KLHL9, HSPH1, DNAJA1 and CACYBP), and more protein disassembly-related enzymes (SEC63, DNAJC3, DNAJB1, DNAJB11 and DNAJC12). …”
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4089por Olbryt, Magdalena, Pigłowski, Wojciech, Rajczykowski, Marcin, Pfeifer, Aleksandra, Student, Sebastian, Fiszer-Kierzkowska, Anna“…The AmpliSeq Custom Panel comprised coding sequences or hot spots of 23 melanoma genes: ATM, BRAF, CDK4, CDKN2A, CTNNB1, EGFR, HOXD8, HRAS, IDH1, KIT, KRAS, MAP3K8, MAP2K1, MAP2K2, MITF, MYC, NF1, NRAS, PAX5, PIK3R1, PTEN, RAC1, and RB1. …”
Publicado 2020
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4090por Pierini, Tiziana, Nardelli, Carlotta, Lema Fernandez, Anair Graciela, Pierini, Valentina, Pellanera, Fabrizia, Nofrini, Valeria, Gorello, Paolo, Moretti, Martina, Arniani, Silvia, Roti, Giovanni, Giovenali, Paolo, Lupattelli, Marco, Metro, Giulio, Molica, Carmen, Castrioto, Corrado, Corinaldesi, Rodolfo, Laurenti, Maria Elena, Ascani, Stefano, Mecucci, Cristina, La Starza, Roberta“…The present study provides new insights into TERTp mutational spectrum occurring in central nervous system tumors, with the identification of new recurrent somatic gain-of-function mutations, occurring in 0.8% of glioblastoma IDH-wildtype. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s40478-020-01022-4) contains supplementary material, which is available to authorized users.…”
Publicado 2020
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4091por Lazow, Margot A., Hoffman, Lindsey, Schafer, Austin, Osorio, Diana S., Boué, Daniel R., Rush, Sarah, Wright, Erin, Lane, Adam, DeWire-Schottmiller, Mariko D., Smolarek, Teresa, Sipple, Jared, Taggert, Heather, Reuss, Jaime, Salloum, Ralph, Hummel, Trent R., de Blank, Peter, Pillay-Smiley, Natasha, Sutton, Mary E., Asher, Anthony, Stevenson, Charles B., Drissi, Rachid, Finlay, Jonathan L., Fouladi, Maryam, Fuller, Christine“…Conservation of BRAF fusion, BRAF(V600E) mutation, and FGFR1 rearrangement status was observed in 100%, 98%, and 96% of paired specimens, respectively. No loss or gain of IDH1 mutations or NTRK2, MYB, or MYBL1 rearrangements were detected over time. …”
Publicado 2020
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4092por Zhang, Rui, Li, Qi, Fu, Jialu, Jin, Zhechuan, Su, Jingbo, Zhang, Jian, Chen, Chen, Geng, Zhimin, Zhang, Dong“…RESULTS: The mutation landscape illustrated distributions of mutation frequencies and types in iCCA, and generated a list of most frequently mutated genes (such as Tp53, KRAS, ARID1A, and IDH1). Thirty-two mutated genes associated with overall survival (OS) were identified in iCCA patients. …”
Publicado 2021
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4093por Lietke, Stefanie, Schmutzer, Michael, Schwartz, Christoph, Weller, Jonathan, Siller, Sebastian, Aumiller, Maximilian, Heckl, Christian, Forbrig, Robert, Niyazi, Maximilian, Egensperger, Rupert, Stepp, Herbert, Sroka, Ronald, Tonn, Jörg-Christian, Rühm, Adrian, Thon, Niklas“…Thirty (68.2%) tumors were O-6-methylguanine-DNA methyltransferase (MGMT)-methylated, 29 (65.9%)—isocitrate dehydrogenase (IDH)-wildtype. Twenty-six (59.1%) patients were treated for their first, 9 (20.5%)—for their second, 9 (20.5%)—for the third or further recurrence. …”
Publicado 2021
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4094“…On multivariate analysis, RT dose (> 54 Gy vs. ≤ 54 Gy) and IDH mutation were independently prognostic markers for OS (HR, 0.47; 95%CI, 0.22–0.98; p = 0.045; and HR, 0.44; 95%CI, 0.21–0.96; p = 0.038, respectively) and PFS (HR, 0.48; 95%CI, 0.26–0.90; p = 0.022; and HR, 0.51; 95%CI, 0.26–0.98; p = 0.044, respectively). …”
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4095por Yin, C. Cameron, Pemmaraju, Naveen, You, M. James, Li, Shaoying, Xu, Jie, Wang, Wei, Tang, Zhenya, Alswailmi, Omar, Bhalla, Kapil N., Qazilbash, Muzaffar H., Konopleva, Marina, Khoury, Joseph D.“…Other recurrent mutations included ZRSR2 (16%), ETV6 (13%), DNMT3A (10%), NRAS (10%), IKZF1 (9%), SRSF2 (9%), IDH2 (8%), JAK2 (6%), KRAS (4%), NOTCH1 (4%), and TP53 (4%). …”
Publicado 2021
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4096por Begna, K. H., Kittur, J., Gangat, N., Alkhateeb, H., Patnaik, M. S., Al-Kali, A., Elliott, M. A., Hogan, W. J., Litzow, M. R., Pardanani, A., Hanson, C. A., Ketterling, R. P., Tefferi, A.“…Administration of any higher-dose (>1 g/m(2)) cytarabine intensive induction (P = 0.50), intensive salvage chemotherapy (P = 0.72), targeted salvage (FLT3 or IDH inhibitors) (P = 0.42), greater than 1 salvage regimen (P = 0.89), age < 60 years (P = 0.30), and de novo AML (P = 0.10) did not enhance response achievement, nor a survival advantage. …”
Publicado 2022
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4097“…We then developed a necroptosis-related prognostic signature including 13 necroptosis-related genes (ATRX, AXL, DDX58, IDH1, ITPK1, MAP3K7, SLC39A7, TARDBP, TNF, TNFRSF1A, TNFRSF1B, TNFSF10, TRIM11) for cervical cancer. …”
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4098por Nie, Yanbo, Shao, Liang, Zhang, Hong, He, Colin K., Li, Hongyu, Zou, Junyan, Chen, Long, Ji, Huaiyue, Tan, Hao, Lin, Yani, Ru, Kun“…In addition, the secondary acute myeloid leukemia (sAML) transformed from CMML often had mutations in DNMT3A, ETV6, FLT3, and NPM1, while the primary AML (pAML) demonstrated more mutations in CEBPA, DNMT3A, FLT3, IDH1/2, NPM1, and WT1. It was of note that a series of clones were emerged during the progression from CMML to AML, including DNMT3A, FLT3, and NPM1. …”
Publicado 2022
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4099por Wee, Liang En, Conceicao, Edwin Philip, Aung, May Kyawt, Aung, Myat Oo, Yang, Yong, Arora, Shalvi, Ko, Karrie Kwan-Ki, Venkatachalam, IndumathiEnlace del recurso
Publicado 2023
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4100por Fernandes, Jyotika, Kaczmar, John, Welsh, Cynthia, Gibbs, Otto, Gannamani, Gowtham“…Germline mutation testing confirmed Next Generation Sequencing: PDL1 5% by CPS, TMB 10 mut/Mb, IDH2, JAK1, KMT2C, NF1, PIK3RI. On the basis of TMB >10 mut/Mb Pembrolizumab was then initiated with good response, noting improvement in symptoms, and normalization of Ca 8.7mg/dL and PTH 35pg/ml. …”
Publicado 2022
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