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194521por Zhang, Ping, Yuan, Xiaohui, Yu, Tingting, Huang, Huakun, Yang, Chunmei, Zhang, Lulu, Yang, Shengdong, Luo, Xiaoji, Luo, Jinyong“…Colorectal cancer (CRC) is a life-threatening malignant tumor of the digestive tract. Diverse gene mutations and complicated alterations to the signaling pathways in CRC lead to heterogeneity in response to chemotherapy. …”
Publicado 2021
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194522por Faluyi, Olusola O., Hull, Mark A., Markham, Alexander F., Bonifer, Constanze, Coletta, P. Louise“…MMR-proficient CRCs commonly develop from precursor adenomas with enhanced Wnt-signalling due to adenomatous polyposis coli (APC) mutations. In melanomas with enhanced Wnt signalling due to stabilized β-catenin, immune anergy and resistance to CKI therapy has been observed, which is dependent on micro-environmental myelomonocytic (MM) cell depletion in melanoma models. …”
Publicado 2021
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194523por Mueller, Matteo, Schneider, Marcel André, Deplazes, Barla, Cabalzar-Wondberg, Daniela, Rickenbacher, Andreas, Turina, Matthias“…More than every second patient below 40 years of age (51.8%) had distant metastases at diagnosis with a significant higher rate ring of signet cell differentiation compared to patients ≥ 50 years (14.8%, P < 0.05). Mutational status (KRAS, NRAS, BRAF, MSI) as well as selected behavioral risk factors showed no significant differences. …”
Publicado 2021
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194524por Aprea, Isabella, Raidt, Johanna, Höben, Inga Marlena, Loges, Niki Tomas, Nöthe-Menchen, Tabea, Pennekamp, Petra, Olbrich, Heike, Kaiser, Thomas, Biebach, Luisa, Tüttelmann, Frank, Horvath, Judit, Schubert, Maria, Krallmann, Claudia, Kliesch, Sabine, Omran, Heymut“…Studies in various ciliated model organisms have shown that axonemal dynein arms are first assembled in the cell cytoplasm and then delivered into axonemes during ciliogenesis. In humans, mutations in genes encoding for factors involved in this process cause structural and functional defects of motile cilia in various organs such as the airways and result in the hereditary disorder primary ciliary dyskinesia (PCD). …”
Publicado 2021
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194525por Xu, Menglong, Lei, Gaoxin, Chen, Manman, Wang, Ke, Lv, Wenxiu, Zhang, Panpan, Hu, Tuo, Gao, Jie, Lu, Chenchen, Mei, Ying, Xu, Zhipan, Bai, Zhengli, Hu, Huajing, Jiang, Yiwei, Tan, Shuhua“…Thereafter, it was transformed to a full-length Fc-silenced anti-PCSK9 antibody FAP2M21 by fusing to a modified human IgG1 Fc fragment with L234A/L235A/N297G mutations and C-terminal lysine deletion, thus eliminating its immune effector functions and mitigating mAb heterogeneity. …”
Publicado 2021
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194526por Patel, Manish R., Falchook, Gerald S., Hamada, Kensuke, Makris, Lukas, Bendell, Johanna C.“…RESULTS: Between August 2016 and January 2017, 18 patients (50% men; median age 56.5 years) were enrolled; 72% had colon cancer and 56% had KRAS mutations. All patients received treatment (median, 2.5 cycles [range, 1–8]). …”
Publicado 2021
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194527por Adlhoch, Cornelia, Fusaro, Alice, Gonzales, José L, Kuiken, Thijs, Marangon, Stefano, Niqueux, Éric, Staubach, Christoph, Terregino, Calogero, Muñoz Guajardo, Irene, Lima, Eliana, Baldinelli, Francesca“…To date, no evidence of fixation of known mutations previously described as associated to zoonotic potential has been observed in HPAI viruses currently circulanting in Europe based on the available sequences.Seven cases due to A(H5N8) HPAI virus have been reported from Russia, all were poultry workerswith mild or no symptoms. …”
Publicado 2021
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194528por Koo, Bon-Kyung, Munroe, William, Gralla, Edith B., Valentine, Joan Selverstone, Whitelegge, Julian P.“…Here we further investigate the role of reduction of the native C57-C146 disulfide bond in fibrillation of wild-type hSOD1, firstly through removal of free thiols by paired mutations C6A, C111S (AS-SOD1), and secondly in seeded fibrillation reactions modulated by reductant tris (2-carboxyethyl) phosphine (TCEP). …”
Publicado 2021
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194529por Saulino, David, Chen, Rong, Wang, Kai, Shen, Minqian, Zhang, Xuefeng, Westerhoff, Maria, Cheng, Jerome, Lin, Jingmei, Zhang, Xuchen, Feely, Michael, Liu, Xiuli“…These results support a chronic atrophic gastritis with intestinal metaplasia-dysplasia-carcinoma sequence in LS-related gastric tumorigenesis, particularly in MLH1-mutated LS patients.…”
Publicado 2021
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194530por Azam, Mudsser, Gaind, Rajni, Yadav, Gulshan, Sharma, Amit, Upmanyu, Kirti, Jain, Manisha, Singh, Ruchi“…Sequence analysis revealed non-synonymous potentially deleterious mutations in phoP (T151A), phoQ (del87–90, del263–264, L30Q, and A351D), pmrA (G53S), pmrB (D150V, T157P, L237R, G250C, A252G, R315P, and Q331H), and mgrB (C28G) genes. …”
Publicado 2021
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194531“…We tested for possible interactions between our curated gene signature and host genomic background mutations and polymorphisms by integrating genome-wide association studies (GWAS) and known oncogenes. …”
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194532por Chua, Su‐Kiat, Wang, Bao‐Wei, Yu, Ying‐Ju, Fang, Wei‐Jen, Lin, Chiu‐Mei, Shyu, Kou‐Gi“…In the HCF‐aa under stretching for 1 h, miR‐499 overexpression decreased pri‐miR‐208a luciferase activity; this inhibition of pri‐miR‐208a luciferase activity with stretching was reversed when the miR‐499‐5p binding site in pri‐miR‐208a was mutated. The addition of antagomir‐208a reversed the Bcl‐2‐3′UTR suppression from stretching for 1 h. …”
Publicado 2021
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194533por Roberts, Jessica P., Stokoe, Sarah A., Sathler, Matheus F., Nichols, Robert A., Kim, Seonil“…These residues are conserved only in the α7 and α4 subunits. We therefore mutated these amino acids in α7-containing nAChRs to mimic the α3 subunit and found that mutant α7-containing receptors were unable to interact with Aβ. …”
Publicado 2021
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194534por Aich, Anupam, Lamarre, Yann, Sacomani, Daniel Pereira, Kashima, Simone, Covas, Dimas Tadeu, de la Torre, Lucimara Gaziola“…Sickle cell disease (SCD) is the monogenic hemoglobinopathy where mutated sickle hemoglobin molecules polymerize to form long fibers under deoxygenated state and deform red blood cells (RBCs) into predominantly sickle form. …”
Publicado 2021
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194535por Kayabölen, Alişan, Sahin, Gizem Nur, Seker, Fidan, Cingöz, Ahmet, Isik, Bekir, Acar, Simge, Wakimoto, Hiroaki, Cahill, Daniel P, Solaroglu, Ihsan, Cribbs, Adam, Oppermann, Udo, Bagci-Onder, Tugba“…Mutations in IDH1 and IDH2 genes are common in low grade gliomas and secondary GBM and are known to cause a distinct epigenetic landscape in these tumors. …”
Publicado 2021
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194536“…Compared with AZD1222, BNT162b and mRNA-1237 have the advantage that they can be quickly re-engineered to mimic new mutations of SARS-CoV-2.…”
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194537por de Miguel, Ricardo, Arrieta, Marta, Rodríguez-Largo, Ana, Echeverría, Irache, Resendiz, Raúl, Pérez, Estela, Ruiz, Héctor, Pérez, Marta, de Andrés, Damián, Reina, Ramsés, de Blas, Ignacio, Luján, Lluís“…It is caused by Small Ruminant Lentiviruses (SRLV), single-stranded RNA viruses with high mutational potential. There is neither treatment nor vaccine against SRLV and proper diagnosis is the key element for efficient control measures against positive animals. …”
Publicado 2021
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194538por Xu, Liya, Kim, Mary E., Polski, Ashley, Prabakar, Rishvanth K., Shen, Lishuang, Peng, Chen-Ching, Reid, Mark W., Chévez-Barrios, Patricia, Kim, Jonathan W., Shah, Rachana, Jubran, Rima, Kuhn, Peter, Cobrinik, David, Biegel, Jaclyn A., Gai, Xiaowu, Hicks, James, Berry, Jesse L.“…Of the seven diagnostic AH samples, 5/7 were positive for RB SCNAs. Mutational analysis identified RB1 variants in 5/7 AH samples, including the 2 samples in which no SCNAs were detected. …”
Publicado 2021
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194539por Yu, Qi, Xiao, Weikun, Sun, Songping, Sohrabi, Alireza, Liang, Jesse, Seidlits, Stephanie K.“…To assess effects of integrin α(v) activation of AKT and ERK pathways, which are typically deregulated in GBM, and expression of epidermal growth factor receptor (EGFR), which is amplified and/or mutated in many GBM tumors, shRNA knockdown was used. …”
Publicado 2021
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194540por Ramšak, Barbara, Markau, Jessica, Pazen, Tobias, Dahlmann, Tim A, Krappmann, Sven, Kück, Ulrich“…The DNA-binding specificity was confirmed by testing mutated binding sequences, as well as performing competition experiments with specific and non-specific sequences. …”
Publicado 2020
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