Associated Papers
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.
Corvilain E et al.
Journal of Clinical Immunology, 2018
Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.
Wiesmeier M et al.
Plos One, 2016
Clinical analysis of genome next-generation sequencing data using the Omicia platform.
Coonrod EM et al.
Expert Review of Molecular Diagnostics, 2013
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
Horwitz MS et al.
Hematology/oncology Clinics of North America, 2013
Digenic mutations in severe congenital neutropenia.
Germeshausen M et al.
Haematologica, 2010
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J et al.
British Journal of Haematology, 2009
Ela2 mutations and clinical manifestations in familial congenital neutropenia.
Shiohara M et al.
Journal of Pediatric Hematology/oncology, 2009
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
Smith BN et al.
British Journal of Haematology, 2009
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
Rosenberg PS et al.
British Journal of Haematology, 2008
Severe congenital neutropenia and the unfolded protein response.
Xia J et al.
Current Opinion in Hematology, 2008
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.
Grenda DS et al.
Blood, 2007
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
Salipante SJ et al.
Human Mutation, 2007
Neutrophil elastase in cyclic and severe congenital neutropenia.
Horwitz MS et al.
Blood, 2007
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response.
Köllner I et al.
Blood, 2006
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.
Massullo P et al.
Blood, 2005
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot C et al.
Blood, 2004
Hereditary neutropenia: dogs explain human neutrophil elastase mutations.
Horwitz M et al.
Trends in Molecular Medicine, 2004
Neutrophil elastase mutations in congenital neutropenia.
Ancliff PJ et al.
Hematology (amsterdam, Netherlands), 2003
Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.
Horwitz M et al.
Cancer Investigation, 2003
Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis.
Grenda DS et al.
Blood, 2002
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
Ancliff PJ et al.
Blood, 2002
Characterization of mutant neutrophil elastase in severe congenital neutropenia.
Li FQ et al.
The Journal of Biological Chemistry, 2001
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
Dale DC et al.
Blood, 2000