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Point mutation

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene

Lorenza Mittempergher, Anna M. Piskorz, Astrid J. Bosma, Magali Michaut, G. Bea A. Wisman, Roelof J. C. Kluin, Marja Nieuwland, Wim Brugman, Kevin J. W. van der Ven, Francesco Marass, James Morris, Nitzan Rosenfeld, Mercedes Jimenez-Linan, Steven de Jong, Ate G. J. van der Zee, James D. Brenton, René Bernards

published 08 Jul 2020

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Resistance to acetolactate synthase inhibitors is due to a W 574 to L amino acid substitution in the ALS gene of redroot pigweed and tall waterhemp

Vijay K. Nandula, Darci A. Giacomini, Jeffery D. Ray

published 29 Jun 2020

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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar, Kalpana Athimoolam, Manikandan Suraj, Mary Shoba Das Christu Das, Aparna Muralidharan, Divya Jeyam, Jaicy Ashokan, Priya Karthikeyan, Ragav Krishna, Arati Khanna-Gupta, Lakshmi Bremadesam Raman

published 19 Jun 2020

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Intragenic suppressor mutations of the COQ8 protein kinase homolog restore coenzyme Q biosynthesis and function in Saccharomyces cerevisiae

Agape M. Awad, Anish Nag, Nguyen V. B. Pham, Michelle C. Bradley, Nour Jabassini, Juan Nathaniel, Catherine F. Clarke

published 01 Jun 2020

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Linezolid-resistant Enterococcus faecium strains isolated from one hospital in Poland –commensals or hospital-adapted pathogens?

Beata Krawczyk, Magdalena Wysocka, Roman Kotłowski, Marek Bronk, Michał Michalik, Alfred Samet

published 26 May 2020

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The role of the C₂A domain of synaptotagmin 1 in asynchronous neurotransmitter release

Mallory C. Shields, Matthew R. Bowers, Hannah L. Kramer, McKenzie M. Fulcer, Lara C. Perinet, Marissa J. Metz, Noreen E. Reist

published 14 May 2020

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Genetic algorithm-based personalized models of human cardiac action potential

Dmitrii Smirnov, Andrey Pikunov, Roman Syunyaev, Ruslan Deviatiiarov, Oleg Gusev, Kedar Aras, Anna Gams, Aaron Koppel, Igor R. Efimov

published 11 May 2020

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Adapting Biased Gene Conversion theory to account for intensive GC-content deterioration in the human genome by novel mutations

Rajan Paudel, Larisa Fedorova, Alexei Fedorov

published 30 Apr 2020

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Functional efficiency of PCR vectors in vitro and at the organism level

Dina R. Safina, Polina I. Selina, Marina P. Roschina, Maria A. Karaseva, Alexey A. Komissarov, Ilya V. Demidyuk, Eugene D. Sverdlov, Sergey V. Kostrov

published 24 Apr 2020

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The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye

published 07 Apr 2020

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Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments

Diana Cimiotti, Setsuko Fujita-Becker, Desirée Möhner, Natalia Smolina, Heidi Budde, Aline Wies, Lisa Morgenstern, Alexandra Gudkova, Thomas Sejersen, Gunnar Sjöberg, Andreas Mügge, Marc M. Nowaczyk, Peter Reusch, Gabriele Pfitzer, Robert Stehle, Rasmus R. Schröder, Hans G. Mannherz, Anna Kostareva, Kornelia Jaquet

published 17 Mar 2020

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HLA class I restricted epitopes prediction of common tumor antigens in white and East Asian populations: Implication on antigen selection for cancer vaccine design

Wei Hu, Meifang He, Liangping Li

published 27 Feb 2020

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Antibacterial activity of novel dual bacterial DNA type II topoisomerase inhibitors

Noemi D’Atanasio, Alessandra Capezzone de Joannon, Laura Di Sante, Giorgina Mangano, Rosella Ombrato, Marco Vitiello, Cristina Bartella, Gabriele Magarò, Federica Prati, Claudio Milanese, Carla Vignaroli, Francesco Paolo Di Giorgio, Serena Tongiani

published 19 Feb 2020

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