Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations

Keywords

Law, Business, Law and economics, Political science, Economics

References

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Cited by

• Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.张喜田, 韩孝族 — 2005
• The diversity of mutations and clinical outcomes for ELANE-associated neutropeniaSabino Álvarez-Gendín — 2015
• PON-SC – program for identifying steric clashes caused by amino acid substitutionsИ.В. Пеков, О.В. Якубович, Н.В. Чуканов — 2017
• ELANE Mutations in Cyclic and Severe Congenital Neutropenia—Genetics and PathophysiologyMarshall S. Horwitz, Seth J. Corey, H. Leighton Grimes — 2012
• Performance of Protein Disorder Prediction Programs on Amino Acid SubstitutionsHeidi Ali, Siddhaling Urolagin, Ömer Gurarslan — 2014
• Bioinformatic Analysis of GJB2 Gene Missense MutationsAkın Yılmaz — 2014
• Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) geneMarina Lanciotti, Gianluca Caridi, Camillo Rosano — 2009
• Immunodeficiency mutation databases (IDbases)Hilkka Piirilä, Jouni Väliaho, Mauno Vihinen — 2006
• Spectrum of disease-causing mutations in protein secondary structuresSofia Khan, Mauno Vihinen — 2007
• Dermaval™ inhibits glucose-induced neutrophil elastase activity in healthy subjectsTania Reyes-Izquierdo, Ruby Argumedo, Cynthia Shu — 2013
• Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Alejandro A. Schäffer, Christoph Klein — 2007
• Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.Ulrich Salzer, Chiara Bacchelli, Sylvie Buckridge — 2008
• Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 EctodomainClaudia Scotti, Carla Olivieri, Laura Boeri — 2011
• PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimalityYves Dehouck, Jean Marc Kwasigroch, Dimitri Gilis — 2011
• Majority Vote and Other Problems when using Computational ToolsMauno Vihinen — 2014
• Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries.Narges Nouri, Esmat Fazel-Najafabadi, Mahdieh Behnam — 2014
• Computational study of missense mutations in phenylalanine hydroxylaseKamila Réblová, Petr Kulhánek, Lenka Fajkusová — 2015
• Types and effects of protein variationsMauno Vihinen — 2015
• Double de novo mutations of ELA2 in cyclic and severe congenital neutropeniaStephen J. Salipante, Kathleen F. Benson, Joanna Luty — 2007
• Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.Suparna Nanua, Mark A. Murakami, Jun Xia — 2011

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