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Nonsense mutation

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt

published 11 Jan 2018

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The absence of N-acetylglucosamine in wall teichoic acids of Listeria monocytogenes modifies biofilm architecture and tolerance to rinsing and cleaning procedures

Thomas Brauge, Christine Faille, Irina Sadovskaya, Alain Charbit, Thierry Benezech, Yang Shen, Martin J. Loessner, Jean Romain Bautista, Graziella Midelet-Bourdin

published 10 Jan 2018

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract

Thomas M. Bennett, Oussama M’Hamdi, J. Fielding Hejtmancik, Alan Shiels

published 21 Dec 2017

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RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan

published 20 Dec 2017

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Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene

K. E. Dittmer, R. D. Jolly, I. G. Mayhew, A. L. Ridler, A. Chernyavtseva, D. J. Garrick, H. T. Blair

published 18 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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Frequency of five disease-causing genetic mutations in a large mixed-breed dog population (2011–2012)

Sharon Zierath, Angela M. Hughes, Neale Fretwell, Mark Dibley, Kari J. Ekenstedt

published 22 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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Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

Yohann Jourdy, Nathalie Enjolras, Sandra Le Quellec, Jean Claude Bordet, Claude Négrier, Christine Vinciguerra, Yesim Dargaud

published 16 Nov 2017

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Genomic analysis of atypical fibroxanthoma

Kevin Lai, Catherine A. Harwood, Karin J. Purdie, Charlotte M. Proby, Irene M. Leigh, Namita Ravi, Thaddeus W. Mully, Lionel Brooks, Priscilla M. Sandoval, Michael D. Rosenblum, Sarah T. Arron

published 15 Nov 2017

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Molecular and epidemiological characterization of carbapenemase-producing Enterobacteriaceae in Norway, 2007 to 2014

Ørjan Samuelsen, Søren Overballe-Petersen, Jørgen Vildershøj Bjørnholt, Sylvain Brisse, Michel Doumith, Neil Woodford, Katie L. Hopkins, Bettina Aasnæs, Bjørg Haldorsen, Arnfinn Sundsfjord, on behalf of The Norwegian Study Group on CPE

published 15 Nov 2017

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Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases

Hana Benhabiles, Sara Gonzalez-Hilarion, Séverine Amand, Christine Bailly, Anne Prévotat, Philippe Reix, Dominique Hubert, Eric Adriaenssens, Sylvie Rebuffat, David Tulasne, Fabrice Lejeune

published 13 Nov 2017

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Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders, James W. McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A. Jamil Tajik, Sakthivel Sadayappan

published 09 Nov 2017

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