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194461“…It is noteworthy that none of the mutations affected growth or morphological development. …”
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194462por Amjad, Fareeha, Fatima, Tamseel, Fayyaz, Tuba, Khan, Muhammad Aslam, Qadeer, Muhammad Imran“…Genome editing is a novel approach which may be used to treat patients with thalassemia; it makes use of targeted nucleases to correct the mutations in specific DNA sequences and modify the sequence to the normal wild-type sequence. …”
Publicado 2020
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194463por Xu, Yun, Li, Cong, Zhang, Yuqin, Guo, Tian’an, Zhu, Congcong, Xu, Ye, Liu, Fangqi“…RESULTS: In total, 42 variants were detected in 27 (58.7%) cases in the FCCTX group, with BRCA1, BRCA2, POLE, POLD1, ATR, and ATM being the most frequently mutated genes. The mean onset age of colorectal cancer (CRC) was significantly older in the FCCTX group than in the LS group (53.57 ± 12.88 years vs. 44.36 ± 11.26 years, t = −9.204, p < 0.001). …”
Publicado 2020
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194464por Peng, Muyun, Huang, Qi, Yin, Wei, Tan, Sichuang, Chen, Chen, Liu, Wenliang, Tang, Jingqun, Wang, Xiang, Zhang, Bingyu, Zou, Min, Li, Jina, Su, Wenhui, Wang, Lientu, Chin, Lihan, Yu, Fenglei“…A high-throughput 127 target-gene capture technology and a high-sensitivity circulating single-molecule amplification and resequencing technology (cSMART) assay were used to detect the somatic mutations in the tumor tissues as well as the plasma of NSCLC patients before and after surgery to monitor for minimal residual disease (MRD). …”
Publicado 2020
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194465por Rahman, Shah Kamranur, Kerviel, Adeline, Mohl, Bjorn-Patrick, He, Yao, Zhou, Z. Hong, Roy, Polly“…Further, an in vitro kinase assay demonstrated that Ca(2+) enhanced the phosphorylation of NS2 significantly. Importantly, mutations introduced at the Ca(2+) binding site in the viral genome by reverse genetics failed to allow recovery of viable virus, and the NS2 phosphorylation level and assembly of viral inclusion bodies (VIBs) were reduced. …”
Publicado 2020
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194466por Chin, Sze-Piaw, Mohd-Shahrizal, Mohd-Yusoff, Liyana, Mohd-Zuhar, Then, Kong Yong, Cheong, Soon Keng“…All 3 generations (newborn, parents, and grandparents) were screened for genetic mutations, infections, cancers, and other inherited diseases. …”
Publicado 2020
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194467por Ito, Kentaro, Murotani, Kenta, Kubo, Akihito, Kunii, Eiji, Taniguchi, Hirokazu, Shindoh, Joe, Asada, Kazuhiro, Imaizumi, Kazuyoshi, Takahashi, Kosuke, Karayama, Masato, Okuno, Motoyasu, Inui, Naoki, Hataji, Osamu, Morikawa, Sayako, Hayai, Shunsaku, Suda, Takafumi, Abe, Takashi, Tsuda, Takeshi, Yamagichi, Teppei, Kimura, Tomoki, Oya, Yuko, Yoshida, Tatsuya, Hida, Toyoaki“…We reviewed the clinical data of consecutive EGFR‐mutated NSCLC patients who received EGFR‐TKI therapy between January 2008 and August 2017 at 11 institutions in Japan. …”
Publicado 2020
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194468por Meng, Liangliang, He, Xiaoxi, Zhang, Xiao, Zhang, Xiaobo, Wei, Yingtian, Wu, Bin, Li, Wei, Li, Jing, Xiao, Yueyong“…The prognostic efficacy of the signature remained unaffected regardless of whether BRAF or NRAS was mutated. As expected, the results were verified in the GSE65904 dataset and the TCGA-UVM dataset. …”
Publicado 2020
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194469por Ma, Chao, Luo, Huan, Cao, Jing, Zheng, Xiangyu, Zhang, Jinjun, Zhang, Yanmin, Fu, Zongqiang“…In addition, the correlation between tumor mutational burden (TMB) and risk score was evaluated by Spearman test. …”
Publicado 2020
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194470por Birch, David G., Cheng, Peiyao, Duncan, Jacque L., Ayala, Allison R., Maguire, Maureen G., Audo, Isabelle, Cheetham, Janet K., Durham, Todd A., Fahim, Abigail T., Ferris, Frederick L., Heon, Elise, Huckfeldt, Rachel M., Iannaccone, Alessandro, Khan, Naheed W., Lad, Eleonora M., Michaelides, Michel, Pennesi, Mark E., Stingl, Katarina, Vincent, Ajoy, Weng, Christina Y.“…TRANSLATIONAL RELEVANCE: Using standardized research protocols in RUSH2A, measures have been identified to monitor disease progression and treatment response and differentiate features of prognostic relevance between USH2 and ARRP participants with USH2A mutations.…”
Publicado 2020
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194471“…Morphological evaluation of the bone marrow smears and biopsy showed no evidence of MPN. Gene mutations in Breakpoint cluster regions-Abelson murine leukemia viral oncogene homologue 1 (BCR-ABL1), Janus kinase 2 (JAK2), calreticulin (CALR), myeloproliferative leukemia virus (MPL), and colony-stimulating factor 3 receptor (CSF3R) were negative. …”
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194472por Ye, Senlin, Wang, Haohui, He, Kancheng, Peng, Mou, Wang, Yinhuai, Li, Yuanwei, Jiang, Shusuan, Li, Jin, Yi, Lu, Cui, Rongrong“…Compared with the wild-type MMR subgroup, patients with MMR alterations, pathogenic MMR alterations, or MMR alterations of unknown significance showed higher rates of hotspot missense mutations or copy number amplifications in the AR gene (24/50 vs. 10/59, P = 7.8 × 10(–4); 7/7 vs. 10/59, P = 2.5 × 10(–5); 17/43 vs. 10/59, P = 0.013). …”
Publicado 2020
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194473por Ford, Anthony, Kepple, Daniel, Abagero, Beka Raya, Connors, Jordan, Pearson, Richard, Auburn, Sarah, Getachew, Sisay, Ford, Colby, Gunalan, Karthigayan, Miller, Louis H., Janies, Daniel A., Rayner, Julian C., Yan, Guiyun, Yewhalaw, Delenasaw, Lo, Eugenia“…A total of 123,711 SNPs were detected, of which 22.7% were nonsynonymous and 77.3% were synonymous mutations. The largest number of SNPs were detected on chromosomes 9 (24,007 SNPs; 19.4% of total) and 10 (16,852 SNPs, 13.6% of total). …”
Publicado 2020
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194474por Le Ribeuz, Hélène, Dumont, Florent, Ruellou, Guillaume, Lambert, Mélanie, Balliau, Thierry, Quatredeniers, Marceau, Girerd, Barbara, Cohen-Kaminsky, Sylvia, Mercier, Olaf, Yen-Nicolaÿ, Stéphanie, Humbert, Marc, Montani, David, Capuano, Véronique, Antigny, Fabrice“…KCNK3 loss of function mutations are responsible for the first channelopathy identified in PAH. …”
Publicado 2020
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194475por Krishnamurthy, Navin H, Chikkanarasaiah, Nagarathna, Nanjappa, Aishwarya, Vathariparambath, Nimishabalakrishnan“…BACKGROUND: Osteogenesis imperfecta or brittle bone disease is caused by mutations in the collegen type I gene which is a heterogeneous rare connective tissue disorder. …”
Publicado 2020
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194476por Wang, Po-Hao, Kumar, Sandeep, Zeng, Jia, McEwan, Robert, Wright, Terry R., Gupta, Manju“…Research on TTs is not limited to transgene expression but could be extended to the introduction of appropriate mutations into TTs via genome editing, paving the way for expression modulation of endogenous genes.…”
Publicado 2020
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194477por Grant-McAuley, Wendy, Fogel, Jessica M., Galai, Noya, Clarke, William, Breaud, Autumn, Marzinke, Mark A., Mbwambo, Jessie, Likindikoki, Samuel, Aboud, Said, Donastorg, Yeycy, Perez, Martha, Barrington, Clare, Davis, Wendy, Kerrigan, Deanna, Eshleman, Susan H.“…In eight cases, one or more ARV drug was detected without corresponding resistance mutations; those women were at risk of acquiring additional drug resistance. …”
Publicado 2020
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194478por De Martino, Eleonora, Brunetti, Davide, Canzonieri, Vincenzo, Conforti, Claudio, Eisendle, Klaus, Mazzoleni, Guido, Nobile, Carla, Rao, Federica, Zschocke, Johannes, Jukic, Emina, Jaschke, Wolfram, Weinlich, Georg, Zelger, Bernhard, Schmuth, Matthias, Stanta, Giorgio, Zanconati, Fabrizio, Zalaudek, Iris, Bonin, Serena“…To this aim, 306 formalin-fixed and paraffin-embedded (FFPE) tissues from primary CM diagnosed in different geographical areas were submitted to B-RAF proto-oncogene serine/threonine kinase (BRAF) and N-RAS proto-oncogene GTPase (NRAS) mutational status detection and mRNA and miRNA profiling by qPCR. …”
Publicado 2020
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194479por Waldherr, Linda, Tiffner, Adela, Mishra, Deepti, Sallinger, Matthias, Schober, Romana, Frischauf, Irene, Schmidt, Tony, Handl, Verena, Sagmeister, Peter, Köckinger, Manuel, Derler, Isabella, Üçal, Muammer, Bonhenry, Daniel, Patz, Silke, Schindl, Rainer“…Synta66-sensitivity of the Orai1 pore was, in fact, diminished by both Orai1 mutations affecting Ca(2+) selectivity and permeation of Na(+) in the absence of Ca(2+). …”
Publicado 2020
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194480por Izaguirre, Daisy I., Ng, Chun-Wai, Kwan, Suet-Yan, Kun, Eucharist H., Tsang, Yvonne T. M., Gershenson, David M., Wong, Kwong-Kwok“…We previously observed that patients with ovarian cancer wild-type for p53 had a poorer survival rate than did those with p53 mutations. Thus, a better understanding of the molecular changes of epithelial ovarian cancer cells with wild-type p53 in response to treatment with cisplatin could reveal novel mechanisms of chemoresistance. …”
Publicado 2020
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