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Point mutation

Evolution-guided adaptation of an adenylation domain substrate specificity to an unusual amino acid

Simon Vobruba, Stanislav Kadlcik, Radek Gazak, Jiri Janata

published 14 Dec 2017

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Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, Martha A. Maloneyhuss, John Wojcik, Amy C. Durham, Nicola J. Mason, David B. Roth

published 30 Nov 2017

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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct

Christopher J. Lynch, Adam D. Cawte, Carolyn M. Millar, David Rueda, David A. Lane

published 29 Nov 2017

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Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

Rachel A. Queen, Jannetta S. Steyn, Phillip Lord, Joanna L. Elson

published 21 Nov 2017

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Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations

Jason Q. Core, Mehrsa Mehrabi, Zachery R. Robinson, Alexander R. Ochs, Linda A. McCarthy, Michael V. Zaragoza, Anna Grosberg

published 17 Nov 2017

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A computational approach for designing D-proteins with non-canonical amino acid optimised binding affinity

Michael Garton, Maryam Sayadi, Philip M. Kim

published 06 Nov 2017

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Pofut1 point-mutations that disrupt O-fucosyltransferase activity destabilize the protein and abolish Notch1 signaling during mouse somitogenesis

Rieko Ajima, Emiko Suzuki, Yumiko Saga

published 02 Nov 2017

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Non-small cell lung cancer (NSCLC), EGFR downstream pathway activation and TKI targeted therapies sensitivity: Effect of the plasma membrane-associated NEU3

Matilde Forcella, Monica Oldani, Samantha Epistolio, Stefania Freguia, Eugenio Monti, Paola Fusi, Milo Frattini

published 31 Oct 2017

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Inhibition of human cytomegalovirus immediate early gene expression and growth by a novel RNase P ribozyme variant

Xu Sun, Weijie Chen, Lingling He, Jingxue Sheng, Yujun Liu, Gia-Phong Vu, Zhu Yang, Wei Li, Phong Trang, Yu Wang, Rong Hai, Hua Zhu, Sangwei Lu, Fenyong Liu

published 23 Oct 2017

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Viral infection upregulates myostatin promoter activity in orange-spotted grouper (Epinephelus coioides)

Yi-Tien Chen, Chao-Fen Lin, Young-Mao Chen, Chih-En Lo, Wan-Erh Chen, Tzong-Yueh Chen

published 16 Oct 2017

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Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

Elena Pardi, Simona Borsari, Federica Saponaro, Fausto Bogazzi, Claudio Urbani, Stefano Mariotti, Francesca Pigliaru, Chiara Satta, Fabiana Pani, Gabriele Materazzi, Paolo Miccoli, Lorena Grantaliano, Claudio Marcocci, Filomena Cetani

published 16 Oct 2017

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The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan

Sonia Covaceuszach, Manuela Bozzi, Maria Giulia Bigotti, Francesca Sciandra, Petr V. Konarev, Andrea Brancaccio, Alberto Cassetta

published 16 Oct 2017

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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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