Year | Citation | Publication Type | Authors |
---|---|---|---|
2017 | Elastase inhibitors as potential therapies for ELANE- associated neutropenia. J Leukoc Biol. 2017;102(4):1143-1151. PMCID: PMC5597518 | Journal Article | Makaryan V, Kelley MK, Fletcher B, Bolyard AA, Aprikyan A, Dale, DC. |
2016 | ELANE 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. | Abstract | Dale D, Bolyard AA, Kelley M, Makaryan V, Boxer L, Bonilla MA, Cavieres M, Tan P, Firkin F. |
2016 | Termination and frameshift mutations in ELANE are associated with adverse outcomes in patients with severe chronic neutropenia. (ASH Annual Meeting Abstracts). Blood. 2016;128:1326 | Abstract | Dale DC, Makaryan V, Kelley ML, Bolyard AA, Boxer L, Newburger P, Bonilla MA, Klimiankou M, Skokowa J, Zeidler C, Welte K. |
2016 | ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. Br J Haematol. 2016;172:219- 27. PMID: 26567890; | Journal Article | Nustede R, Klimiankou M, Klimenkova O, etal. |
2015 | The diversity of mutations and clinical outcomes for ELANE associated neutropenia. Curr Op Hematol. 2015;22:3-11. PMCID: PMC4380169 | Journal Article | Makaryan 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. |
2012 | For 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. | Abstract | Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Kelley ML, Boxer LA, Bonilla MA, Newburger P, Shimamura A, Welte K, Dale DC |
2012 | For 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 120:3275 | Abstract | Makaryan 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 |
2011 | ELANE Mutations in cyclic and congenital neutropenia: genotype- phenotype and structure-function relationships. (ASH Annual Meeting Abstracts). Blood. 2011;118:3398. | Abstract | Dale DC, Makaryan V, Bolyard AA, Rodger ER, Kelley ML, Marrero TM, Phan L, Aprikyan AA, Bonilla MA, Newburger PE, Boxer LA, Link D. |
2010 | Cyclic 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 Article | Newburger PE, Pindyck TN, Zhu Z, Bolyard AA, Aprikyan AA, Dale DC, Smith GD, Boxer LA. |