ELANE

YearCitationPublication TypeAuthors
2017Elastase inhibitors as potential therapies for ELANE- associated neutropenia. J Leukoc Biol.
2017;102(4):1143-1151. PMCID: PMC5597518
Journal ArticleMakaryan V, Kelley MK, Fletcher B, Bolyard AA, Aprikyan A, Dale, DC.
2016ELANE mutation C223ter predisposes patients with severe congenital neutropenia to acute myeloid leukemia. (European Hematology Association [EHA] Meeting Abstracts). Haematologica. 2016;101(s1): 679,Abstract PB1661.AbstractDale D, Bolyard AA, Kelley M, Makaryan V, Boxer L, Bonilla MA, Cavieres M, Tan P, Firkin F.
2016Termination and frameshift mutations in ELANE are associated with adverse outcomes in patients with severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016;128:1326AbstractDale DC, Makaryan V, Kelley ML, Bolyard AA, Boxer L, Newburger P, Bonilla MA, Klimiankou M, Skokowa J, Zeidler C, Welte K.
2016ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. Br J Haematol. 2016;172:219- 27. PMID: 26567890;Journal ArticleNustede R, Klimiankou M, Klimenkova O, etal.
2015The diversity of mutations and clinical outcomes for ELANE associated neutropenia. Curr Op Hematol. 2015;22:3-11. PMCID: PMC4380169Journal ArticleMakaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC.
2012For the Severe Chronic Neutropenia International Registry (SCNIR). Clinical outcomes for patients with severe chronic neutropenia due to mutations in the gene for neutrophil elastase, ELANE . (ASH Annual Meeting Abstracts). Blood.
2012;120:3275.
AbstractMakaryan V, Zeidler C, Bolyard AA, Skokowa J, Kelley ML, Boxer LA, Bonilla MA, Newburger P, Shimamura A, Welte K, Dale DC
2012For the Severe Chronic Neutropenia International Registry (SCNIR). Clinical outcomes for patients with neutropenia attributable to mutations in the gene for neutrophil elastase, ELANE. Blood 2012 120:3275AbstractMakaryan V, Zeidler C, Boylyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, f
2011ELANE Mutations in cyclic and congenital neutropenia: genotype- phenotype and structure-function relationships. (ASH Annual Meeting Abstracts). Blood. 2011;118:3398.AbstractDale DC, Makaryan V, Bolyard AA, Rodger ER, Kelley ML, Marrero TM, Phan L, Aprikyan AA, Bonilla MA, Newburger PE, Boxer LA, Link D.
2010Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer. 2010 Aug;55(2):314-317. doi: 10.1002/pbc.22537. PubMed PMID:
20582973; PubMed Central PMCID: PMC2913300.
Journal ArticleNewburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, Smith GD, Boxer LA.