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194801por Ding, Dandan, Zhang, Jufeng, Luo, Zhiming, Wu, Huazhen, Lin, Zexiao, Liang, Weicheng, Xue, Xingyang“…Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) are widely used for patients with EGFR-mutated lung cancer. Despite its initial therapeutic efficacy, most patients eventually develop drug resistance, which leads to a poor prognosis in lung cancer patients. …”
Publicado 2022
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194802por Khan, Husain Yar, Nagasaka, Misako, Li, Yiwei, Aboukameel, Amro, Uddin, Md. Hafiz, Sexton, Rachel, Bannoura, Sahar, Mzannar, Yousef, Al-Hallak, Mohammed Najeeb, Kim, Steve, Beydoun, Rafic, Landesman, Yosef, Mamdani, Hirva, Uprety, Dipesh, Philip, Philip A., Mohammad, Ramzi M., Shields, Anthony F., Azmi, Asfar S.“…FDA has recently granted approval to sotorasib for KRAS G12C–mutated non–small cell lung cancer (NSCLC). However, patients receiving these agents as monotherapy generally develop drug resistance over time. …”
Publicado 2022
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194803por Jensen, Klaus Højgaard, Stalder, Anna Katharina, Wernersson, Rasmus, Roloff-Handschin, Tim-Christoph, Hansen, Daniel Hvidberg, Groenen, Peter M. A.“…BACKGROUND: Despite the discovery of familial cases with mutations in Cu/Zn-superoxide dismutase (SOD1), Guanine nucleotide exchange C9orf72, TAR DNA-binding protein 43 (TARDBP) and RNA-binding protein FUS as well as a number of other genes linked to Amyotrophic Lateral Sclerosis (ALS), the etiology and molecular pathogenesis of this devastating disease is still not understood. …”
Publicado 2022
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194804por Wang, Stephani C., Zhang, Fengmin, Zhu, Hui, Yang, Haipeng, Liu, Yang, Wang, Ping, Parpura, Vladimir, Wang, Yu-Feng“…While wearing mask, maintaining social distance and performing self-quarantine can reduce virus spreading passively, vaccination actively enhances immune defense against COVID-19. However, mutations of SARS-CoV-2 and presence of asymptomatic carriers frustrate the effort of completely conquering COVID-19. …”
Publicado 2022
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194805Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelinespor Yap, Timothy A., Ashok, Arya, Stoll, Jessica, Mauer, Elizabeth, Nepomuceno, Vanessa M., Blackwell, Kimberly L., Garber, Judy E., Meric-Bernstam, Funda“…Within the tumor types lacking testing guidelines, germline mutations were at 6.6% (79/1188) in bladder cancer and 5.8% (448/7668) in lung cancer. …”
Publicado 2022
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194806“…Gene set enrichment analysis-based RAB40C impact pathways and the correlation between RAB40C expression and immune infiltration were obtained using the TIMER2.0 and the CIBERSORT analytical tools. Tumor mutational load and microsatellite instability (MSI) were assessed by the Spearman correlation analysis. …”
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194807por Ndacayisaba, Libere J., Rappard, Kate E., Shishido, Stephanie N., Ruiz Velasco, Carmen, Matsumoto, Nicholas, Navarez, Rafael, Tang, Guilin, Lin, Pei, Setayesh, Sonia M., Naghdloo, Amin, Hsu, Ching-Ju, Maney, Carlisle, Symer, David, Bethel, Kelly, Kelly, Kevin, Merchant, Akil, Orlowski, Robert, Hicks, James, Mason, Jeremy, Manasanch, Elisabeth E., Kuhn, Peter“…Multiple myeloma is an incurable malignancy that initiates from a bone marrow resident clonal plasma cell and acquires successive mutational changes and genomic alterations, eventually resulting in tumor burden accumulation and end-organ damage. …”
Publicado 2022
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194808por Ramberg, Ingvild, Vieira, Filipe Garrett, Toft, Peter Bjerre, von Buchwald, Christian, Heegaard, Steffen“…Further, the genomic profile of the HPV16-positive carcinomas, with activating mutations in the PI3K-AKT signaling cascade, wildtype status of TP53, and p16 overexpression, resembles that of HPV-driven disease at other locations with implications for future therapy. …”
Publicado 2022
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194809por Durairaj, Kaliannan, Trinh, Thuy-Tien Thi, Yun, Su-Yeon, Yeo, Seon-Ju, Sung, Haan-Woo, Park, Hyun“…Overall, our study demonstrates that Korean H6N6 strain PB1-S375N, PA-A404S, and S409N mutations are infectious in humans and might contribute to the enhanced pathogenicity of this strain. …”
Publicado 2022
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194810por Yi, Xiaoping, Fu, Yan, Long, Qianyan, Zhao, Yazhuo, Li, Sai, Zhou, Chunhui, Lin, Huashan, Liu, Xiaolian, Liu, Chang, Chen, Changyong, Shi, Liangrong“…Associations among predictors and gene mutations were also examined by correlation matrix analysis. …”
Publicado 2022
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194811por Pietzsch, Leonora, Körholz, Julia, Boschann, Felix, Sergon, Mildred, Dorjbal, Batsukh, Yee, Debra, Gilly, Vanessa, Kämmerer, Eva, Paul, Diana, Kastl, Clemens, Laass, Martin W., Berner, Reinhard, Jacobsen, Eva Maria, Roesler, Joachim, Aust, Daniela, Lee-Kirsch, Min A., Snow, Andrew L., Schuetz, Catharina“…CONCLUSION: The phenotypic spectrum associated with heterozygous CARD11 DN mutations is broad. Partial T-cell deficiency, diminished IFN-γ cytokine and increased IL-4 production, were identified as disease-causing mechanisms. …”
Publicado 2022
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194812“…Although epidermal growth factor (EGFR)-tyrosine kinase inhibitors (TKIs) have significantly improved the prognosis of advanced non-small cell lung cancer (NSCLC) patients with EGFR mutations, patients often develop resistance to these drugs. …”
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194813por Zhang, Lifeng, Fu, Weiwei, Zheng, Limei, Song, Fangling, Chen, Yupeng, Jiang, Changzhen, Xing, Zhen, Hu, Chengcong, Ye, Yuhong, Zhang, Sheng, Yan, Xiaorong, Wang, Xingfu“…Molecular genetic testing showed that the tumor cells lacked IDH gene mutations, LOH of 1p/19q, MYCN amplification, and EGFR alteration. …”
Publicado 2022
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194814por Qian, Zongwei, Ji, Yanhai, Li, Ranhong, Lanteri, Sergio, Chen, Haili, Li, Longfei, Jia, Zhiyang, Cui, Yanling“…Based on the annotation of Eggplant genome V3 and orthologous genes in Arabidopsis thaliana, one candidate gene SMEL_009g329850 (SmGTS1, encoding a putative ubiquitin ligase) contains 4 SNPs and 2 Indels consecutive intron mutations in the flank of the same exon in P1. SmGTS1 displayed significantly higher expression in P1 and was selected as a potential candidate gene controlling TGW in eggplant. …”
Publicado 2022
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194815por Crocco, Marco, Verrico, Antonio, Milanaccio, Claudia, Piccolo, Gianluca, Gaggero, Gabriele, De Marco, Patrizia, Iurilli, Valentina, Profio, Sonia Di, Calevo, Maria Grazia, Casalini, Emilio, Iorgi, Natascia Di“…BRAF inhibitors (BRAFi) in recent years have played a central role in disease control of unresectable BRAF-mutated pediatric low-grade gliomas (LGG). Understanding the side effects of these drugs is crucial for clinical practice. …”
Publicado 2022
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194816por Ghasemi, David R, Okonechnikov, Konstantin, Tirier, Stephan, Rademacher, Anne, Mallm, Jan-Philipp, Ernst, Kati, Rippe, Karsten, Korshunov, Andrey, Pfister, Stefan M, Pajtler, Kristian W“…RESULTS: All cases were molecularly classified as Sonic Hedgehog (SHH)-MB, and harbored somatic mutations within the SHH-pathway. After quality control, a total of ~30.000 cells were subjected to downstream analysis. …”
Publicado 2022
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194817por Kresbach, Catena, Schoof, Melanie, Holst, Lea, Leven, Tara, Yorgan, Timur, Wrzeszcz, Antonina, Rutkowski, Stefan, Schüller, Ulrich“…Shh medulloblastoma is characterized by mutations in the Sonic Hedgehog (Shh) pathway, providing an elegant way of targeted therapy. …”
Publicado 2022
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194818por Vanova, Katerina, Krskova, Lenka, Vicha, Ales, Sumerauer, David, Zamecnik, Josef, Koblizek, Miroslav, Libý, Petr, Benes, Vladimir, Malinova, Bela, Zapotocky, Michal“…In the H3wt group we found patients carrying driver mutations in IDH1/2 (n=2) and BRAFV600E (7). Five young patients (under 3) consisted of 3 infant hemispheric gliomas (with NTRK and ROS1 fusions), one gliomatosis cerebri and one brainstem anaplastic astrocytoma with MYB/QKI fusion. …”
Publicado 2022
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194819por Maass, Kendra K, Roosen, Mieke M, Mueller, Torsten, Senfter, Daniel, Benzel, Julia, Wedig, Tatjana, Kalxsdorf, Mathias, Krijgsveld, Jeroen, Pfister, Stefan M, Pajtler, Kristian W“…Because pediatric EPNs have a relatively low mutational burden, identification and characterization of tumor-associated pathways and molecular processes are of critical importance to reveal potential therapeutic targets. …”
Publicado 2022
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194820por Tsai, Jessica W, Choi, Jungwhan John, Ouaalam, Hakim, Murrillo, Efrain Aguilar, Yeo, Kee Kiat, Vogelzang, Jayne, Sousa, Cecilia, Woods, Jared K, Ligon, Keith L, Warfield, Simon K, Bandopadhayay, Pratiti, Cooney, Tabitha M“…Mean volumetric change for BRAFV600E mutated pLGG on BRAF inhibitors was -54.11%, and median time to best volumetric response was 8.28 months (n = 12). …”
Publicado 2022
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