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Point mutation

Involvement of the Arg⁵⁶⁶ residue of Aeromonas sobria serine protease in substrate specificity

Hidetomo Kobayashi, Tadamune Otsubo, Fumiteru Teraoka, Kiyoshi Ikeda, Soshi Seike, Eizo Takahashi, Keinosuke Okamoto, Toru Yoshida, Hideaki Tsuge, Hiroyasu Yamanaka

published 12 Oct 2017

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Role of the N-terminus for the stability of an amyloid-β fibril with three-fold symmetry

Christian A. Söldner, Heinrich Sticht, Anselm H. C. Horn

published 12 Oct 2017

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Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I. C. F. Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla

published 02 Oct 2017

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The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis

Evgeny M. Makarov, Tatyana A. Shtam, Roman A. Kovalev, Rimma A. Pantina, Elena Yu Varfolomeeva, Michael V. Filatov

published 29 Sep 2017

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CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca²⁺ release termination and diminishes protein expression

Yingjie Liu, Jinhong Wei, Siobhan M. Wong King Yuen, Bo Sun, Yijun Tang, Ruiwu Wang, Filip Van Petegem, S. R. Wayne Chen

published 29 Sep 2017

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Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

Mallory C. Shields, Matthew R. Bowers, McKenzie M. Fulcer, Madelyn K. Bollig, Patrick J. Rock, Bryan R. Sutton, Alysia D. Vrailas-Mortimer, Hanns Lochmüller, Roger G. Whittaker, Rita Horvath, Noreen E. Reist

published 27 Sep 2017

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A single point mutation in a TssB/VipA homolog disrupts sheath formation in the type VI secretion system of Proteus mirabilis

Christina C. Saak, Martha A. Zepeda-Rivera, Karine A. Gibbs

published 26 Sep 2017

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CT characteristics in pulmonary adenocarcinoma with epidermal growth factor receptor mutation

Jing Zhao, Julien Dinkel, Arne Warth, Roland Penzel, Niels Reinmuth, Philipp Schnabel, Thomas Muley, Michael Meister, Heike Zabeck, Martin Steins, Jian-yong Yang, Qian Zhou, Heinz-Peter Schlemmer, Felix J. F. Herth, Hans-Ulrich Kauczor, Claus Peter Heussel

published 26 Sep 2017

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Whole-genome sequencing of mutants with increased resistance against the two-peptide bacteriocin plantaricin JK reveals a putative receptor and potential docking site

Bie Ekblad, Jon Nissen-Meyer, Tom Kristensen

published 20 Sep 2017

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DUSP5 and DUSP6, two ERK specific phosphatases, are markers of a higher MAPK signaling activation in BRAF mutated thyroid cancers

Camille Buffet, Karine Hecale-Perlemoine, Léopoldine Bricaire, Florent Dumont, Camille Baudry, Frédérique Tissier, Jérôme Bertherat, Beatrix Cochand-Priollet, Marie-Laure Raffin-Sanson, Françoise Cormier, Lionel Groussin

published 14 Sep 2017

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Translating natural genetic variation to gene expression in a computational model of the Drosophila gap gene regulatory network

Vitaly V. Gursky, Konstantin N. Kozlov, Ivan V. Kulakovskiy, Asif Zubair, Paul Marjoram, David S. Lawrie, Sergey V. Nuzhdin, Maria G. Samsonova

published 12 Sep 2017

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Dissection of mammalian orthoreovirus µ2 reveals a self-associative domain required for binding to microtubules but not to factory matrix protein µNS

Catherine Eichwald, Jonghwa Kim, Max L. Nibert

published 07 Sep 2017

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Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Yihua Yao, Xuedong Zheng, Xianglian Ge, Yanghui Xiu, Liu Zhang, Weifang Fang, Junzhao Zhao, Feng Gu, Yihua Zhu

published 06 Sep 2017

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