Minichromosome Maintenance Proteins: From DNA Replication to the DNA Damage Response by Agnes Malysa, Xiaohong Mary Zhang, Gerold Bepler

“…Dysfunctional DNA replication and DDR are a source of genomic instability, causing heritable mutations that drive cancer evolutions. The family of minichromosome maintenance (MCM) proteins plays an important role not only in DNA replication but also in DDR. …”
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Nongenomic Mechanisms of PTEN Regulation by Jimmie E. Fata, Shawon Debnath, Edmund C. Jenkins, Marcia V. Fournier

“…Here we discuss PTEN ubiquitination, PTEN complex formation with components of the adherens junction, PTEN nuclear localization, and microRNA regulation of PTEN as essential regulatory mechanisms that determine PTEN function independent of gene mutations and epigenetic events.…”
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Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis by Seyed Hossein Mirlohi, Sanaz Tajfirooz, Mitra Rouhi

“…Diagnosis was confirmed through whole genome sequencing, revealing mutations in genes associated with the disorder.…”
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Progress in the Study of Polymyxin Heteroresistance Molecular Mechanisms by LI Yanbing, ZHOU Menglan, XU Yingchun

“…In several common gram-negative bacteria, mutations in the PhoPQ and PmrAB two-component systems are key contributors to polymyxin heteroresistance. …”
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Pediatric Case of Li–Fraumeni Syndrome in Honduras by R. Martínez-Beckerat, C. Alas-Pineda, M. Melgar-Gonzales, B. Mejía-Raudales, N. Andino-Paz, S. Bejarano-Cáceres, J. Chiang

“…It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. …”
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Hybrid discrete-continuous model of invasive bladder cancer by Eugene Kashdan, Svetlana Bunimovich-Mendrazitsky

“…This type of cancer starts in theurothelium and progresses towards surroundingmuscles and tissues, causing metastatic disease.Our mathematical model of invasive BC consists of two coupledsub-models: (i) living cycle of the urothelial cells (normal and mutated) simulatedusing discrete technique of Cellular Automata and (ii) mechanism oftumor invasion described by the system of reaction-diffusionequations. …”
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A Case Report of Pulmonary Exacerbation after Initiation of Lumacaftor/Ivacaftor Therapy in a CF Female with Complicated Lung Disease by Elpis Hatziagorou, Eleana Kouroukli, Vasiliki Georgopoulou, John Tsanakas

“…Novel targeted treatments for Cystic Fibrosis give rise to new hope for an ever-growing number of CF patients with various mutations. However, very little evidence and guidelines exist to steer clinical decisions regarding patients whose illness takes an unexpected course. …”
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Duchenne muscular dystrophy: recent insights in brain related comorbidities by Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen, Konstantina Tetorou, Aurelie Goyenvalle, Francesco Muntoni

“…Abstract Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, arises from DMD gene mutations, affecting the production of muscle dystrophin protein. …”
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Pathos és válasz. Bernhard Waldenfels „esztétikájáról” by Kristóf Zámbó

“…Az esztétikai tapasztalat azon lényegi momentuma, amit hagyományosan megütközésnek nevezünk, éppen a tapasztalatban állandóan jelenlévő pathikus elemre mutat rá. Az itt következő vizsgálódás Waldenfels gondolatmenetét követi végig, arra koncentrálva, miként lazítja föl a tapasztalat pathos felöli elgondolása a husserli fenomenológia intencionalitás-elméletét, miként kapcsolódik a pszichoanalitkus hagyományhoz, valamint a kortárs képtelmélethez, küldönös tekintettel a deixis és a gesztus témakörére. …”
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Les ailes du crime ou la modernité de Détective by Mélodie Simard-Houde

“…In order to blend with the rubrics and poetics features of the weekly, these representations undergo some mutations that reveal how Détective operates a diversion of a mediatic intertext (literary, cinematographic and journalistic) that traces, in the same years, a heroic and epic tale of the conquest of the air. …”
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T-PLL Presenting with an Indolent Course by Arsa Thammahong, Narittee Sukswai, Chantana Polprasert

“…T-cell receptor clonality assessment by next-generation sequencing revealed a dominant clone in the ß-chain constant region. No pathogenic mutations in 25 lymphoma-related genes were found. …”
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Optimising primary molecular profiling in non-small cell lung cancer. by R D Schouten, I Schouten, M M F Schuurbiers, V van der Noort, R A M Damhuis, E H F M van der Heijden, J A Burgers, N P Barlo, A S R van Lindert, K W Maas, J J G van den Brand, A A J Smit, J M W van Haarst, B van der Maat, E Schuuring, H Blaauwgeers, S M Willems, K Monkhorst, D van den Broek, M M van den Heuvel

“…Plasma-based testing was feasible in 98.4% and identified oncogenic driver mutations in 7.1% of patients for whom tissue profiling was unfeasible.…”
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Detection of Delafloxacin Resistance Mechanisms in Multidrug-Resistant <i>Klebsiella pneumoniae</i> by András Kubicskó, János Juhász, Katalin Kamotsay, Dora Szabo, Béla Kocsis

“…<b>Conclusions:</b> We conclude that multiple mutations in QRDRs, in combination with OqxAB and AcrAB efflux pumps, achieved delafloxacin resistance in <i>K. pneumoniae</i>. …”
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Therapeutic benefit of the dual ALK/FAK inhibitor ESK440 in ALK-driven neuroblastoma by Seema Chugh, Jean C. Tien, Jennifer Hon, Carson Kenum, Rahul Mannan, Yunhui Cheng, Chi Chiang Li, Zainab I. Taher, Andrew D. Delekta, Pushpinder Singh Bawa, Ingrid J. Apel, Stephanie J. Miner, Xuhong Cao, Rohit Mehra, Saravana M. Dhanasekaran, Yuanyuan Qiao, Rajen Mody, Arul M. Chinnaiyan

“…In addition, a proportion of high-risk patients harbor amplification or activating mutations in anaplastic lymphoma kinase (ALK), and co-occurrence of ALK mutations and MYCN amplification have been associated with aggressive disease. …”
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Complex immunohistochemical and molecular study on 5 cases of ovarian juvenile granulosa cell tumors reveals a consistent alteration in the PI3K/AKT/mTOR signaling pathway by Adam Šafanda, Nikola Hájková, Michaela Kendall Bártů, Marián Švajdler, Radoslav Matěj, Jitka Hausnerová, Tomáš Zima, Pavel Dundr, Kristýna Němejcová

“…Two other cases exhibited mutations in TERT and EP400 and both developed recurrence. …”
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Genetic evidence for the causal effect of clonal hematopoiesis on pulmonary arterial hypertension by Jia-Yong Qiu, Shen-Shen Huang, Chao Liu, Dong Ding, Yan-Hong Xu, Yi-Min Mao, Ya-Dong Yuan

“…Conclusion These findings showed that individuals with CH due to TET2 mutations may have a higher risk of developing PAH, suggesting that the CH patients may be tested for TET2 gene mutations.…”
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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families by Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang

“…Conclusion This study identifies novel mutations in FDXR and TWNK that contribute to non-isolated AN through mitochondrial dysfunction. …”
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Genomic, transcriptomic, and T cell receptor profiling in stratifying response to first-line chemoradiotherapy or radiotherapy for esophageal squamous cell carcinoma by Xiaqin Zhang, Jianhong Lian, Fukun Chen, Kai Wang, Haoyuan Xue, Sufang Jia, Weili Wang, Zhongkang Li, Hua Liang, Hongwei Li

“…The molecular characteristics of locally advanced ESCC have been extensively studied.MethodsIn this study, we investigate the genomic and transcriptomic characteristics and try to provide the basic T-cell receptors (TCRs) dynamics and its genomic and transcriptome association during the radiochemotherapy of ESCC using multi-omics analysis.ResultsA total of 23 patients with pathologic diagnoses of locally advanced ESCC were enrolled. The median tumor mutational burden (TMB) of the 23 ESCC patients were 3.47 mutations/ Mb (mega-base). …”
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Identification of pyrimidine metabolism-based molecular subtypes and prognostic signature to predict immune landscape and guide clinical treatment in prostate cancer by Yu-Zhong Yu, Xiao Xie, Mao-Ping Cai, Ya-Ying Hong, Yang-Zi Ren, Xi Kang, Hai-Chen Yan, Yang Xiong, Hong Chen, Xing-Cheng Wu, Dao-Sheng Luo, Shan-Chao Zhao

“…The PMGs is associated with the clinical prognosis of several cancers, but its biological role in PCa is still unclear.Methods This study extracted 98 reliable PMGs, and analyzed their somatic mutations, expression levels, and prognostic significance. …”
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Evaluation of Yellow Fever Virus Infection in <i>Aedes aegypti</i> Mosquitoes from Pakistan with Distinct Knockdown Resistance Genotypes by Carlucio Rocha dos Santos, Caleb Guedes Miranda dos Santos, Dinair Couto-Lima, Bárbara Silva Souza, Rafi Ur Rahman, Marcos Dornelas Ribeiro, José Bento Pereira Lima, Ademir Jesus Martins

“…Therefore, it is important to investigate whether the presence of <i>kdr</i> mutations influences the infectivity of YFV mosquitoes. …”
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