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196841“…Each V-DOMAIN is fully characterized (gene identification, sequence description, junction analysis, characterization of mutations and amino changes). The functionality is generic and can analyse any IG or TR single chain nucleotide sequence containing two V domains, provided that the corresponding species IMGT reference directory is available. …”
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196842por Salašová, Alena, Yokota, Chika, Potěšil, David, Zdráhal, Zbyněk, Bryja, Vítězslav, Arenas, Ernest“…BACKGROUND: Autosomal-dominant mutations in the Park8 gene encoding Leucine-rich repeat kinase 2 (LRRK2) have been identified to cause up to 40% of the genetic forms of Parkinson’s disease. …”
Publicado 2017
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196843por Racioppi, Claudia, Valoroso, Maria Carmen, Coppola, Ugo, Lowe, Elijah K., Brown, C. Titus, Swalla, Billie J., Christiaen, Lionel, Stolfi, Alberto, Ristoratore, Filomena“…Similarly, M. occulta Tyr allele expression was not rescued in pigmented interspecific M. occulta × M. oculata hybrid embryos, suggesting deleterious mutations also to its cis-regulatory sequences. However, in situ hybridization for transcripts from the M. occulta Tyrp.a pseudogene revealed its expression in vestigial pigment cell precursors in this species. …”
Publicado 2017
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196844por Herrera Sanchez, Maria Beatriz, Previdi, Sara, Bruno, Stefania, Fonsato, Valentina, Deregibus, Maria Chiara, Kholia, Sharad, Petrillo, Sara, Tolosano, Emanuela, Critelli, Rossana, Spada, Marco, Romagnoli, Renato, Salizzoni, Mauro, Tetta, Ciro, Camussi, Giovanni“…BACKGROUND: Argininosuccinate synthase (ASS)1 is a urea cycle enzyme that catalyzes the conversion of citrulline and aspartate to argininosuccinate. Mutations in the ASS1 gene cause citrullinemia type I, a rare autosomal recessive disorder characterized by neonatal hyperammonemia, elevated citrulline levels, and early neonatal death. …”
Publicado 2017
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196845por Oshone, Rediet, Ngom, Mariama, Chu, Feixia, Mansour, Samira, Sy, Mame Ourèye, Champion, Antony, Tisa, Louis S.“…Mechanisms involving transcriptional and translational regulation, cell envelop remodeling, and previously uncharacterized proteins appear to be important for salt tolerance. Physiological and mutational analyses will further shed light on the molecular mechanism of salt tolerance in Casuarina associated Frankia isolates. …”
Publicado 2017
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196846“…Additional endpoints included virologic rebound, re-suppression, and/or failure; VL < 40 cp/mL at last measurement; development of additional mutations. Virologic failure (VF) was defined as failure to achieve a VL < 200 cp/mL or achievement of VL < 200 cp/mL but with rebound to > 200 cp/mL on all successive VLs. …”
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196847“…Post-treatment resistance panel was available for 7/10 patients with the following detected mutations: Q30H/K/E/R, L31 L/M, Q20Q, M28V, Q80K, Y93A/H. 2/8 GT1a/b patients were re-treated with SOF/Elbasvir(EBR)/Grazoprevir(GZR)/RBV, 2 with SOF/ Velpatasvir (VEL)/RBV, 2 with EBR/GZR+/-RBV, and 2 with Viekira/SOF/RBV. 1 patient with GT 3a was retreated with SOF/Daclatasvir (DAC), 1 with SOF/VEL/RBV. …”
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196848por Tran, Truc T, Diaz, Lorena, Rios, Rafael, Dinh, An, Jahanbakhsh, Seyedehameneh, Kebriaei, Razieh, Rybak, Michael J, Arias, Cesar“…RESULTS: We detected a total of 16 proteins exhibiting substitutions consistently in all the DAP-R sequenced isolates; including mobile genetic elements (9), hypothetical proteins (2), a bacteriocin, a cysteine desulfurase, a N-acetylglucosamine-specific PTS system, a N-acetylmannosamine-6-phosphate 2-epimerase and a MurR/RpiR, which is a transcriptional regulator that represses the operon MurPQ involved in the uptake and degradation of N-acetylmuramic acid. Notably, mutations in cardiolipin synthase were present only in isolates recovered under D8 dose. …”
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196849“…O16-B2-ST131 isolates were shown to have a lower resistance to quinolones than O25b-B2-ST131 isolates. 5 nonsynonymous mutations (GyrA S83 L, D87N, ParC S80I, E84V and ParE I529L) were strongly associated with ST131 H30 and O25b isolates. …”
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196850por Sen, Arko, Gurdziel, Katherine, Liu, Jenney, Qu, Wen, Nuga, Oluwademi O., Burl, Rayanne B., Hüttemann, Maik, Pique-Regi, Roger, Ruden, Douglas. M.“…H3K36me3 is a histone mark that demarcates exons in genes by interacting with the mRNA splicing machinery. Mutating sm (sm(4)/Df) resulted in loss of both basal and induced levels of RI in many of the same long-intron containing genes. …”
Publicado 2017
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196851por Guo, Weina, Jelocnik, Martina, Li, Jing, Sachse, Konrad, Polkinghorne, Adam, Pannekoek, Yvonne, Kaltenboeck, Bernhard, Gong, Jiansen, You, Jinfeng, Wang, Chengming“…In addition, a plasmid designated pJX-1, almost identical to p1274 of the type strain, except for two point mutations, was only found in field strains from chicken, but not in other hosts. …”
Publicado 2017
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196852por Snijder, Berend, Vladimer, Gregory I, Krall, Nikolaus, Miura, Katsuhiro, Schmolke, Ann-Sofie, Kornauth, Christoph, Lopez de la Fuente, Oscar, Choi, Hye-Soo, van der Kouwe, Emiel, Gültekin, Sinan, Kazianka, Lukas, Bigenzahn, Johannes W, Hoermann, Gregor, Prutsch, Nicole, Merkel, Olaf, Ringler, Anna, Sabler, Monika, Jeryczynski, Georg, Mayerhoefer, Marius E, Simonitsch-Klupp, Ingrid, Ocko, Katharina, Felberbauer, Franz, Müllauer, Leonhard, Prager, Gerald W, Korkmaz, Belgin, Kenner, Lukas, Sperr, Wolfgang R, Kralovics, Robert, Gisslinger, Heinz, Valent, Peter, Kubicek, Stefan, Jäger, Ulrich, Staber, Philipp B, Superti-Furga, Giulio“…Identification of effective therapies with genomic-based precision medicine is hampered by intratumour heterogeneity and incomplete understanding of the contribution of various mutations within specific cancer phenotypes. Ex-vivo drug-response profiling in patient biopsies might aid effective treatment identification; however, proof of its clinical utility is limited. …”
Publicado 2017
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196853por Yalvac, Mehmet E., Amornvit, Jakkrit, Braganza, Cilwyn, Chen, Lei, Hussain, Syed-Rehan A., Shontz, Kimberly M., Montgomery, Chrystal L., Flanigan, Kevin M., Lewis, Sarah, Sahenk, Zarife“…BACKGROUND: Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle. …”
Publicado 2017
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196854por Li, Lili, Xu, Juan, Qiu, Guohua, Ying, Jianming, Du, Zhenfang, Xiang, Tingxiu, Wong, Kai Yau, Srivastava, Gopesh, Zhu, Xiao-Feng, Mok, Tony S, Chan, Anthony TC, Chan, Francis KL, Ambinder, Richard F, Tao, Qian“…DLEC1 was frequently downregulated in ESCC, lung and NPC cell lines and primary tumors, but was readily expressed in normal tissues and immortalized normal epithelial cells, with mutations rarely detected. DLEC1 methylation was frequently detected in ESCC tumors and correlated with lymph node metastasis, tumor recurrence and progression, with DLEC1 as the most frequently methylated among the established 3p22.2 tumor suppressors (RASSF1A, PLCD1 and ZMYND10/BLU). …”
Publicado 2018
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196855por Li, Na, Rowley, Simone M., Thompson, Ella R., McInerny, Simone, Devereux, Lisa, Amarasinghe, Kaushalya C., Zethoven, Magnus, Lupat, Richard, Goode, David, Li, Jason, Trainer, Alison H., Gorringe, Kylie L., James, Paul A., Campbell, Ian G.“…METHODS: The coding regions and exon-intron boundaries of 56 genes that have either been proposed by GWASs to be the regulatory targets of the SNPs and/or located < 500 kb from the risk SNPs were sequenced in index cases from 1043 familial breast cancer families that previously had negative test results for BRCA1 and BRCA2 mutations and 944 population-matched cancer-free control participants from an Australian population. …”
Publicado 2018
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196856por Malli, Theodora, Rammer, Melanie, Haslinger, Sabrina, Burghofer, Jonathan, Burgstaller, Sonja, Boesmueller, Hans-Christian, Marschon, Renate, Kranewitter, Wolfgang, Erdel, Martin, Deutschbauer, Sabine, Webersinke, Gerald“…It was previously shown to be induced in CLL cells but not in normal B-cells upon treatment with IL-4 and to be overexpressed in CLL cells with unmutated versus mutated IGHV genes. Its role in CLL is still unexplored. …”
Publicado 2018
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196857por Turkington, Hannah L., Juozapaitis, Mindaugas, Tsolakos, Nikos, Corrales-Aguilar, Eugenia, Schwemmle, Martin, Hale, Benjamin G.“…Notably, ameliorated p85β-binding is insufficient for bat FLUAV NS1 to activate PI3K, and a chimeric bat FLUAV expressing NS1 with engineered hydrophobic patch mutations exhibits cell-type-dependent, but species-independent, propagation phenotypes. …”
Publicado 2018
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196858por Lee, Dae Ho, Isobe, Hiroshi, Wirtz, Hubert, Aleixo, Sabina Bandeira, Parente, Phillip, de Marinis, Filippo, Huang, Min, Arunachalam, Ashwini, Kothari, Smita, Cao, Xiting, Donnini, Nello, Woodgate, Ann-Marie, de Castro, Javier“…The use of health care resources showed no regular pattern associated with results of tests for activating mutations of the epidermal growth factor receptor (EGFR) gene or anaplastic lymphoma kinase (ALK) gene rearrangements. …”
Publicado 2018
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196859por Zila, Nina, Bileck, Andrea, Muqaku, Besnik, Janker, Lukas, Eichhoff, Ossia M., Cheng, Phil F., Dummer, Reinhard, Levesque, Mitchell P., Gerner, Christopher, Paulitschke, Verena“…BACKGROUND: MAP kinase inhibitor (MAPKi) therapy for BRAF mutated melanoma is characterized by high response rates but development of drug resistance within a median progression-free survival (PFS) of 9–12 months. …”
Publicado 2018
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196860por Fidler, Mary Jo, Fhied, Cristina L., Roder, Joanna, Basu, Sanjib, Sayidine, Selina, Fughhi, Ibtihaj, Pool, Mark, Batus, Marta, Bonomi, Philip, Borgia, Jeffrey A.“…METHODS: Serum samples were prospectively collected from 57 patients receiving salvage chemotherapy and 70 non-EGFR mutated patients receiving erlotinib. Patients were classified as either VeriStrat good or poor based on the VeriStrat test. …”
Publicado 2018
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