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194341por Forstnerič, Vida, Oven, Irena, Ogorevc, Jernej, Lainšček, Duško, Praznik, Arne, Lebar, Tina, Jerala, Roman, Horvat, Simon“…BACKGROUND: Forkhead box P3(+) (FOXP3(+)) regulatory T cells (Tregs) are a subset of lymphocytes, critical for the maintenance of immune homeostasis. Loss-of-function mutations of the FOXP3 gene in animal models and humans results in loss of differentiation potential into Treg cells and are responsible for several immune-mediated inflammatory diseases. …”
Publicado 2019
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194342“…Accordingly, AKT1 is mutated and AKT2 is amplified in some cases of breast cancer and AKT isoforms are associated with overall survival and therapy response in an isoform-specific manner. …”
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194343por Shematorova, Elena K., Shpakovski, Dmitry G., Chernysheva, Anna D., Shpakovski, George V.“…BACKGROUND: Mutations in the CLN3 gene lead to so far an incurable juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease that starts at the age of 4–6 years with a progressive retinopathy leading to blindness. …”
Publicado 2018
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194344“…The analysis of gained and lost genes in the main lineages showed that functions of carbohydrates utilization (uptake of and metabolism) were gained principally in EB1A lineage, whereas loss of environmental-adaptive functions in FGB2 lineage were observed, but this lineage showed higher accumulated mutations and ancient recombination events. The population structure of E. coli was re-evaluated including up to 7561 new sequenced genomes, showing a more complex population structure of E. coli, as a new phylogroup, phylogroup I, was proposed. …”
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194345por Yosra, Macherki, Sameh, Souissi, Randa, Ghedira, Yassmine, Remadi, Sallouha, Gabbouj, Nadia, Bouzid, Noureddine, Bouaouina, Abdelfattah, Zakhama, Elham, Hassen“…The genotyping analysis showed that the presence of mutated allele -1237C (TLR9-1237 TC+CC) was associated with large tumor size (p = 0.017; OR (CI 95%) = 1.888 (1.11-3.19)) at diagnosis. …”
Publicado 2019
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194346“…Factors associated with risk of AD progression include younger age of onset, family history of atopy, greater AD severity, filaggrin mutations, urban environment and polysensitization and/or allergic multimorbidity. …”
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194347por Kamga, Larisa, Gil, Anna, Song, Inyoung, Brody, Robin, Ghersi, Dario, Aslan, Nuray, Stern, Lawrence J., Selin, Liisa K., Luzuriaga, Katherine“…Reduced activation of T cells expressing this CDR3 motif was also observed following exposure to mutated (D4A) peptide. In summary, we show that a highly public TCR repertoire to an immunodominant epitope of a common human virus is almost completely selected on the basis of CDR3α and provide a likely structural basis for the selection. …”
Publicado 2019
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194348por Maynard, Lucy H., Smith, Olivia, Tilmans, Nicolas P., Tham, Eleonore, Hosseinzadeh, Shayan, Tan, Weilun, Leenay, Ryan, May, Andrew P., Paulk, Nicole K.“…Errors in viral genome replication and packaging can result in the incorporation of faulty genomes with mutations, truncations, or rearrangements, compromising vector potency. …”
Publicado 2019
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194349“…These Huntington’s disease mutations cause misfolding and aggregation of fragments of the mutant huntingtin protein, thereby likely contributing to disease toxicity through a combination of gain-of-toxic-function for the misfolded aggregates and a loss of function from sequestration of huntingtin and other proteins. …”
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194350por Dineen, Rob A, Raschke, Felix, McGlashan, Hannah L, Pszczolkowski, Stefan, Hack, Lorna, Cooper, Andrew D, Prasad, Manish, Chow, Gabriel, Whitehouse, William P, Auer, Dorothee P“…Participants with A-T underwent structured neurological assessment, and expression / activity of ataxia-telangiectasia mutated (ATM) kinase were recorded. RESULTS: Ataxia-telangiectasia participants had cerebellar volume loss (fractional total cerebellar volume: 5.3% vs 8.7%, P < 0.0005, fractional 4th ventricular volumes: 0.19% vs 0.13%, P < 0.0005), that progressed with age (fractional cerebellar volumes, r = -0.66, P = 0.001), different from the control group (t = -4.88, P < 0.0005). …”
Publicado 2019
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194351por Studencka-Turski, Maja, Çetin, Gonca, Junker, Heike, Ebstein, Frédéric, Krüger, Elke“…Accordingly, disruption of proteasome activity due to, e.g., loss-of-function mutations within genes encoding proteasome subunits, results in systemic autoinflammation. …”
Publicado 2019
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194352por Pandey, Ravi S., Graham, Leah, Uyar, Asli, Preuss, Christoph, Howell, Gareth R., Carter, Gregory W.“…METHODS: We performed RNA-Seq on whole brain samples from a panel of six-month-old female mice, each carrying one of the following mutations: homozygous deletions of Apoe and Clu; hemizygous deletions of Bin1 and Cd2ap; and a transgenic APOEε4. …”
Publicado 2019
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194353por Zhang, Fanfan, Luo, Suxian, Gu, Jun, Li, Zhiquan, Li, Kai, Yuan, Weifeng, Ye, Yu, Li, Hao, Ding, Zhen, Song, Deping, Tang, Yuxin“…Phylogenetic analysis revealed that PEDVs circulating in Southern China during the last 7 years were clustered with the variant strains of PEDV in genotype IIa. The most frequent mutations were present in the collagenase equivalent (COE) and epitope regions of the spike gene of the PEDVs currently circulating in the field. …”
Publicado 2019
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194354por Liu, Yaqing, Chi, Miaomiao, Liu, Ying, Wen, Hongling, Zhao, Li, Song, Yanyan, Liu, Na, Wang, Zhiyu“…All the site-directed mutations altered the NA activity of NDV HN without affecting protein cell surface expression. …”
Publicado 2019
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194355por Nihei, Yoshihiro, Mori, Kohji, Werner, Georg, Arzberger, Thomas, Zhou, Qihui, Khosravi, Barham, Japtok, Julia, Hermann, Andreas, Sommacal, Andreas, Weber, Markus, Kamp, Frits, Nuscher, Brigitte, Edbauer, Dieter, Haass, Christian“…Poly-glycine–arginine and poly-proline-arginine increased foci formed by phosphorylated Ataxia Telangiectasia Mutated (pATM), a major sensor of DSBs, whereas poly-glycine–alanine (poly-GA) evoked a reduction of pATM foci. …”
Publicado 2019
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194356por Bouwman, Kim M., Parsons, Lisa M., Berends, Alinda J., de Vries, Robert P., Cipollo, John F., Verheije, Monique H.“…In particular, QX-RBD amino acids 110 to 112 (KIP) were sufficient to render IBV-M41 with the ability to bind to kidney, while the reciprocal mutations in IBV-QX abolished kidney binding completely. …”
Publicado 2020
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194357por Basgalupp, Suelen Porto, Siebert, Marina, Ferreira, Charles, Behringer, Sidney, Spiekerkoetter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa Doederlein“…BACKGROUND: Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. …”
Publicado 2020
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194358“…In addition, SMCHD1 germline mutations lead to developmental diseases; facioscapulohumoral muscular dystrophy (FSHD), bosma arhinia and micropthalmia (BAMS). …”
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194359por Yatsenko, Andriy S., Kucherenko, Mariya M., Xie, Yuanbin, Aweida, Dina, Urlaub, Henning, Scheibe, Renate J., Cohen, Shenhav, Shcherbata, Halyna R.“…Remarkably, among many cases of diagnosed dystroglycanopathies, only a small fraction can be linked directly to mutations in Dg or its regulatory enzymes, implying the involvement of other, not-yet-characterized, Dg-regulating factors. …”
Publicado 2020
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194360por Fintelmann, Florian J., Troschel, Fabian M., Kuklinski, Martin W., McDermott, Shaunagh, Petranovic, Milena, Digumarthy, Subba R., Sharma, Amita, Troschel, Amelie S., Price, Melissa C., Hariri, Lida P., Gilman, Matthew D., Shepard, Joanne O., Sequist, Lecia V., Piotrowska, Zofia“…Postprogression repeat biopsies are critical in caring for patients with lung cancer with epidermal growth factor receptor (EGFR) mutations. However, hesitation about invasive procedures persists. …”
Publicado 2019
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