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Point mutation

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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Novel EGFR ectodomain mutations associated with ligand-independent activation and cetuximab resistance in head and neck cancer

Sindhu Nair, Hoa Q. Trummell, Rajani Rajbhandari, Nanda K. Thudi, Susan E. Nozell, Jason M. Warram, Christopher D. Willey, Eddy S. Yang, William J. Placzek, James A. Bonner, Markus Bredel

published 18 Feb 2020

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Clinical significance of EGFR mutation types in lung adenocarcinoma: A multi-centre Korean study

Hee-Young Yoon, Jeong-Seon Ryu, Yun Su Sim, Dojin Kim, Sung Yong Lee, Juwhan Choi, Sojung Park, Yon Ju Ryu, Jin Hwa Lee, Jung Hyun Chang

published 13 Feb 2020

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Tks5 SH3 domains exhibit differential effects on invadopodia development

Christina Daly, Brewer Logan, Joseph Breeyear, Kelley Whitaker, Maryam Ahmed, Darren F. Seals

published 30 Jan 2020

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Tryptophan residue 32 in human Cu-Zn superoxide dismutase modulates prion-like propagation and strain selection

Anthony Crown, Luke McAlary, Eric Fagerli, Hilda Brown, Justin J. Yerbury, Ahmad Galaleldeen, Neil R. Cashman, David R. Borchelt, Jacob I. Ayers

published 30 Jan 2020

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Antimicrobial resistance patterns and molecular resistance markers of Campylobacter jejuni isolates from human diarrheal cases

Mohamed Elhadidy, Mohamed Medhat Ali, Ayman El-Shibiny, William G. Miller, Walid F. Elkhatib, Nadine Botteldoorn, Katelijne Dierick

published 17 Jan 2020

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Pan-cancer analysis of somatic mutations and epigenetic alterations in insulated neighbourhood boundaries

Pietro Pinoli, Eirini Stamoulakatou, An-Phi Nguyen, María Rodríguez Martínez, Stefano Ceri

published 16 Jan 2020

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