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194401por Le Rhun, Emilie, Wolpert, Fabian, Fialek, Maud, Devos, Patrick, Andratschke, Nicolaus, Reyns, Nicolas, Dummer, Reinhard, Mortier, Laurent, Weller, Michael“…Response was assessed using RECIST 1.1, RANO or iRANO criteria. RESULTS: BRAF mutations were noted in 26 patients. 54 patients (87%) had 1–3 metastases. …”
Publicado 2019
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194402por Ikuta, Soko, Maruyama, Takashi, Saito, Taiichi, Nitta, Masayuki, Tsuzuki, Syunsuke, Fukui, Atsushi, Kawamata, Takakazu, Muragaki, Yoshihiro“…In 193 cases (82%) histopathology of the tumor was re-classified based on evaluation of IDH1 mutational status and 1p/19q co-deletion according to criteria of WHO classification 2016. …”
Publicado 2019
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194403por Fukai, Junya, Arita, Hideyuki, Umehara, Toru, Yoshioka, Ema, Shofuda, Tomoko, Kodama, Yoshinori, Kinoshita, Manabu, Okita, Yoshiko, Nonaka, Masahiro, Uda, Takehiro, Sakamoto, Daisuke, Mori, Kanji, Kanemura, Yonehiro“…MGMT promoter was methylated in 50 (54.3%) (≥70 years)/14 (42.4%) (≤50 years) tumors in Kansai Network and 34 (48.6%) (≥70 years)/16 (36.4%) (≤50 years) tumors in TCGA. TERT promoter was mutated in 51 (55.4%) (≥70 years)/13 (39.4%) (≤50 years) tumors in Kansai Network and unknown in TCGA. …”
Publicado 2019
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194404por Heumann, Thatcher, Ye, Rebecca, Wu, Peter, Habibi, Akram, Sansosti, Alexandra, Beaudreault, Cameron, Kryger, Marc, Bernstein, Kenneth, Pavlick, Anna, Kondziolka, Douglas“…RESULTS: Among 123 newly diagnosed MBM patients: 65% were male, 24% were 50 years old or less, 50% were BRAF mutated, 63% had multiple intracranial lesions at diagnosis. …”
Publicado 2019
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194405por Biotteau, Maëlle, Déjean, Sébastien, Lelong, Sandrine, Iannuzzi, Stéphanie, Faure-Marie, Nathalie, Castelnau, Pierre, Rivier, François, Lauwers-Cancès, Valérie, Baudou, Eloïse, Chaix, Yves“…While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). …”
Publicado 2020
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194406por Myat, Tin Ohn, Oo, Khine Mar, Mone, Hla Kye, Htike, Wah Win, Biswas, Ambarish, Hannaway, Rachel F., Murdoch, David R., Ussher, James E., Crump, John A.“…Fluoroquinolone resistance was associated predominantly with mutations in the quinolone resistance-determining region. bla(CTX-M-15) expression was common among ESBL-producers. …”
Publicado 2020
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194407“…RATIONALE: Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are progressive neuromuscular disorders caused by mutations in the dystrophin gene. The management of anesthesia in patients with BMD is complicated because they are highly sensitive to the conventional anesthetics such as volatile anesthetics and muscle relaxants. …”
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194408“…Most cancer cases are due to genetic mutations, which affect metabolism and result in facial changes. …”
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194409por Zakka, Katerina, Nagy, Rebecca, Drusbosky, Leylah, Akce, Mehmet, Wu, Christina, Alese, Olatunji B., El-Rayes, Bassel F., Kasi, Pashtoon Murtaza, Mody, Kabir, Starr, Jason, Shaib, Walid L.“…Genomic alterations were defined in 280 (87.5%) samples with a total of 1,012 alterations identified after excluding variants of uncertain significance (VUSs) and synonymous mutations. Of the 280 samples with alterations, TP53 associated genes were most commonly altered (N = 145, 52%), followed by KRAS (N = 61, 22%), EGFR (N = 33, 12%), PIK3CA (N = 30, 11%), BRAF (N = 28, 10%), MYC (N = 28, 10%), CCNE1 (N = 28, 10%), CDK6 (N = 22, 8%), RB1 (N = 19, 7%), NF1 (N = 19, 7%), MET (N = 19, 7%), FGFR1 (N = 19, 7%), APC (N = 19, 7%), ERBB2 (N = 16, 6%) and PTEN (N = 14, 5%). …”
Publicado 2020
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194410por Farrelly, Lorna, Zhang, Shuangping, Flaherty, Erin, Topol, Aaron, Schrode, Nadine, Bastle, Ryan, Bhanu, Natarajan, Garcia, Benjamin, Li, Haitao, Brennand, Kristen, Maze, Ian“…It is largely heritable with genetic risk reflected by a combination of common variants of small effect and highly penetrant rare mutations. Chromatin modifications are known to play critical roles in the mediation of many neurodevelopmental processes, and, when disturbed, may also contribute to the precipitation of psychiatric disorders, such as SCZ. …”
Publicado 2020
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194411por Pustovalova, Margarita, Alhaddad, Lina, Smetanina, Nadezhda, Chigasova, Anna, Blokhina, Taisia, Chuprov-Netochin, Roman, Osipov, Andreyan N., Leonov, Sergey“…The additional 2 Gy exposure led to significant changes in the kinetics of γH2AX and phosphorylated ataxia telangiectasia mutated (pATM) foci numbers in A549IR and H1299IR compared to parental NSCLC cells. …”
Publicado 2020
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194412por O’Brien, Henrik, Alvin, Joseph W., Menghani, Sanjay V., Sanchez-Rosario, Yamil, Van Doorslaer, Koenraad, Johnson, Michael D. L.“…Here, using several recombinant proteins and mutations in various DNA fragments, we define those 10 bases as necessary but not sufficient for binding and in doing so, refine the cop operon operator to the 16-base sequence RNYKACANNTGTMRNY. …”
Publicado 2020
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194413por He, Xiaokun, Song, Jiagui, Cai, Zeyu, Chi, Xiaochun, Wang, Zhenbin, Yang, Decao, Xie, Sian, Zhou, Jing, Fu, Yi, Li, Wei, Kong, Wei, Zhan, Jun, Zhang, Hongquan“…Some of these cases are caused by genetic mutations of smooth muscle genes ACTA2, ACTG2, MYH11, MYLK and LMOD1. …”
Publicado 2020
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194414por AbuOun, Manal, O’Connor, Heather M., Stubberfield, Emma J., Nunez-Garcia, Javier, Sayers, Ellie, Crook, Derick W., Smith, Richard P., Anjum, Muna F.“…Approximately 72.6% of E. coli from ciprofloxacin plates and only 8.5% from the other plates harbored fluoroquinolone resistance due to topoisomerase mutations; the majority were MDR. In fact, multivariable analysis confirmed E. coli purified from CIP enrichment plates were more likely to be MDR, and suggested MDR isolates were also more probable from farms with high antibiotic usage, specialist finisher farms, and farms emptying their manure pits only after each batch. …”
Publicado 2020
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194415por Millar, Jane R., Bengu, Nomonde, Fillis, Rowena, Sprenger, Ken, Ntlantsana, Vuyokazi, Vieira, Vinicius A., Khambati, Nisreen, Archary, Moherndran, Muenchhoff, Maximilian, Groll, Andreas, Grayson, Nicholas, Adamson, John, Govender, Katya, Dong, Krista, Kiepiela, Photini, Walker, Bruce D., Bonsall, David, Connor, Thomas, Bull, Matthew J., Nxele, Nelisiwe, Roider, Julia, Ismail, Nasreen, Adland, Emily, Puertas, Maria C., Martinez-Picado, Javier, Matthews, Philippa C., Ndung'u, Thumbi, Goulder, Philip“…The high-frequency virological failure in IU-infected infants was associated not with transmitted or acquired drug-resistant mutations but with cART non-adherence (plasma cART undetectable/subtherapeutic, p<0.0001) and with concurrent maternal cART failure (OR 15.0, 95%CI 5.6–39.6; p<0.0001). …”
Publicado 2020
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194416“…Expressing wild type Syt7 in Syt7 KO lymphocytes reversed this deficit, confirming its Syt7-dependence. Mutations of Syt7 which disrupt calcium binding to its C2A domain reduced the efficacy of this rescue. …”
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194417“…Based on previous genome-wide analyses, we selected SGK1 and TAP1 as candidate genes for resilience, and genotyped three mutations, including a 3′UTR variant SGK1_rs338508371 and two synonymous variants TAP1_rs1109026889 and TAP1_rs80928141 in 305 Landrace × Large White sows. …”
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194418por Modi, Shanu, Park, Haeseong, Murthy, Rashmi K., Iwata, Hiroji, Tamura, Kenji, Tsurutani, Junji, Moreno-Aspitia, Alvaro, Doi, Toshihiko, Sagara, Yasuaki, Redfern, Charles, Krop, Ian E., Lee, Caleb, Fujisaki, Yoshihiko, Sugihara, Masahiro, Zhang, Lin, Shahidi, Javad, Takahashi, Shunji“…A dose escalation and expansion phase I study evaluated the safety and activity of T-DXd in patients with advanced HER2-expressing/mutated solid tumors. Here, results for T-DXd at the recommended doses for expansion (RDE) in patients with HER2-low (immunohistochemistry [IHC] 1+ or IHC 2+/in situ hybridization−) breast cancer (ClinicalTrials.gov identifier: NCT02564900) are reported. …”
Publicado 2020
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194419por Musonda, Taonga, Zulu, Mildred, Samutela, Mulemba, Kalonda, Annie, Mantina, Hamakwa, Okuku, Pauline, Sinkala, Musalula, Nkhoma, Panji“…Sickle cell anaemia (SCA) is an inherited disease resulting from mutations in the β-globin chain of adult haemoglobin that results in the formation of homozygous sickle haemoglobin. …”
Publicado 2020
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194420“…BACKGROUND: Nonsense-mediated mRNA decay (NMD) can degrade mRNAs with a premature termination codon (PTC), and undegraded mRNAs with PTC mutations can induce a genetic compensation response (GCR) by upregulating its compensatory genes. …”
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