Comment agir au cœur d’un paysage fluvial en mutation ? by Anourak Visouthivong

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Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations by Su-Hye Choi, Seung-Hyun Jung, Yeun-Jun Chung

“…Accurate detection of genomic alterations, especially druggable hotspot mutations in tumors, has become an essential part of precision medicine. …”
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Tumor mutation burden for predicting immune checkpoint blockade response: the more, the better by Ming Zheng

“…Background Recently, the US Food and Drug Administration (FDA) has approved immune checkpoint blockade (ICB) for treating cancer patients with tumor mutation burden (TMB) >10 mutations/megabase (mut/Mb). …”
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Adaptive-mutation Whale Optimization Algorithm for Flood Control Operation of Reservoir Groups by GONG Jintai, FENG Zhongkai, WANG Sen, JIA Wenhao

“…Flood control operation of reservoir groups is a complex nonlinear optimization problem involving multiple dimensions,variables,and stages,and plays a vital role in developing efficient and stable methods to enhance the overall flood control capacity of river basins.Whale optimization algorithm (WOA) is an innovative evolutionary algorithm inspired by whale predation behaviors.However,when it is employed to solve flood control operation,problems of premature convergence and proneness to fall into local optimum will occur.To this end,this paper proposes an adaptive-mutation whale optimization algorithm (AWOA) for solving the flood control operation of reservoir groups.In AWOA,an enhanced chaotic strategy is adopted to ensure the dispersion and uniformity of the initial operation scheme.Secondly,a reverse oscillation mutation strategy is utilized to enhance the global search ability.Finally,an adaptive weight strategy is leveraged to realize local fine exploration.Classical test functions and typical operation scenarios in West River show that the proposed method has significant peak shaving effects under various scenarios.With a fast convergence rate and high search accuracy,AWOA provides a novel and practical method for solving the flood control operation of reservoir groups.…”
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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites by Yne de Vries, Nikki Lwiwski, Marieke Levitus, Bertus Kuyt, Sara J. Israels, Fré Arwert, Michel Zwaan, Cheryl R. Greenberg, Blanche P. Alter, Hans Joenje, Hanne Meijers-Heijboer

“…We also show that the Dutch and Manitoba Mennonite FANCC c.67delG patients share the same haplotype surrounding this mutation, indicating a common founder.…”
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« Mutations de l’espace marchand », DESSE R-P., LESTRADE S. (Dir.) by Emilie Demoyer

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher

“…Knowledge of somatic mutations contributing to PCC/PGL/HNPGL pathogenesis has received less attention though mutations in HRAS, HIF2A, NF1, RET, and VHL have been reported. …”
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The Possible Role of TLR2 in Chronic Hepatitis B Patients with Precore Mutation by Malihe Moradzadeh, Sirous Tayebi, Hossein Poustchi, Kourosh Sayehmiri, Parisa Shahnazari, Elnaz Naderi, Ghodratollah Montazeri, Ashraf Mohamadkhani

“…In this study, the frequency of precore mutations of the hepatitis B virus (HBV) and serum TLR2 were evaluated in CHB patients. …”
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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations by Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané

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Systematic analysis of Fc mutations designed to enhance binding to Fc-gamma receptors by Geoff Hale, Alastair Douglas Davy, Ian Wilkinson

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Association of PIK3CA somatic mutations with clinicopathological parameters in breast cancer by Gizem Teoman, Zeynep Turkmen Usta, Zeynep Sagnak Yilmaz, Sevdegul Aydin Mungan, Ismail Saygin

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A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation by Adamantia Nikolaidi, Irene Konstantopoulou, Nikolaos Pistalmantzian, Florentia Fostira, Drakoulis Yannoukakos, Ilias Athanasiadis

“…The patient underwent germline gene-panel testing for the detection of mutations in cancer predisposing genes. A truncating mutation in the Fanconi anemia complementation group M (FANCM) gene was detected in heterozygosity, namely, p.Arg658Ter (c.1972C>T, rs368728266). …”
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Arising amitraz and pyrethroids resistance mutations in the ectoparasitic Varroa destructor mite in Canada by Rassol Bahreini, Joel González-Cabrera, Carmen Sara Hernández-Rodríguez, Sara Moreno-Martí, Samantha Muirhead, Renata B Labuschagne, Olav Rueppell

“…The phenotypic resistance showed a significant correlation with the presence of this mutation across apiaries. In parallel, the L925I and L925M mutations in the voltage-gated sodium channel were identified in 100% of the tested apiaries with frequencies ranging from 33 to 97%, suggesting that resistance to pyrethroids remains widespread. …”
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Systematic analysis of Fc mutations designed to reduce binding to Fc-gamma receptors by Geoff Hale, Jelle De Vos, Alastair Douglas Davy, Koen Sandra, Ian Wilkinson

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A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene by Christin B. Laufer, Layne B. Green, Darren E. Whittemore

“…She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. …”
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Ultrasound Radiogenomics-based Prediction Models for Gene Mutation Status in Breast Cancer by Zhai Yue, Tan Dianhuan, Lin Xiaona, Lv Heng, Chen Yan, Li Yongbin, Luo Haiyu, Dan Qing, Zhao Chenyang, Xiang Hongjin, Zheng Tingting, Sun Desheng

Subjects: “…|ultrasound|radiogenomics|breast cancer|gene mutation|prediction models…”
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Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism by Rami Salameh, Mumtaheena Miah, Catherine Anastasopoulou

“…Also, it shows possible association between MTHFR gene mutation and male hypogonadism.…”
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High-throughput method characterizes hundreds of previously unknown antibiotic resistance mutations by Matthew J. Jago, Jake K. Soley, Stepan Denisov, Calum J. Walsh, Danna R. Gifford, Benjamin P. Howden, Mato Lagator

“…Abstract A fundamental obstacle to tackling the antimicrobial resistance crisis is identifying mutations that lead to resistance in a given genomic background and environment. …”
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Is increased mutation driving genetic diversity in dogs within the Chornobyl exclusion zone? by Megan N Dillon, Allison N Dickey, Reade B Roberts, Jennifer A Betz, Timothy A Mousseau, Norman J Kleiman, Matthew Breen

“…With this work, we investigate mutation as a possible driver of this genetic differentiation. …”
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Adaptive Mechanisms of Mycobacterium tuberculosis: Role of fbiC Mutations in Dormancy and Survival by Parissa Farnia, Mohsen Maleknia, Poopak Farnia, Jalaledin Ghanavi

“…The potential role of fbiC mutations and functional impairments in the persistence of Mtb is emphasized. …”
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