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Items: 1 to 20 of 92

1.

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

Tidwell T, Wechsler J, Nayak RC, Trump L, Salipante SJ, Cheng JC, Donadieu J, Glaubach T, Corey SJ, Grimes HL, Lutzko C, Cancelas JA, Horwitz MS.

Blood. 2014 Jan 23;123(4):562-9. doi: 10.1182/blood-2013-07-513242. Epub 2013 Nov 1.

2.

Severe congenital neutropenia: new lane for ELANE.

Borregaard N.

Blood. 2014 Jan 23;123(4):462-3. doi: 10.1182/blood-2013-11-537068.

3.

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells.

Nayak RC, Trump LR, Aronow BJ, Myers K, Mehta P, Kalfa T, Wellendorf AM, Valencia CA, Paddison PJ, Horwitz MS, Grimes HL, Lutzko C, Cancelas JA.

J Clin Invest. 2015 Aug 3;125(8):3103-16. doi: 10.1172/JCI80924. Epub 2015 Jul 20.

4.
5.

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M.

Hum Mutat. 2013 Jun;34(6):905-14. doi: 10.1002/humu.22308. Epub 2013 Apr 2.

PMID:
23463630
6.

Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.

Wiesmeier M, Gautam S, Kirschnek S, H├Ącker G.

PLoS One. 2016 Dec 12;11(12):e0168055. doi: 10.1371/journal.pone.0168055. eCollection 2016.

7.

Elastase inhibitors as potential therapies for ELANE-associated neutropenia.

Makaryan V, Kelley ML, Fletcher B, Bolyard AA, Aprikyan AA, Dale DC.

J Leukoc Biol. 2017 Oct;102(4):1143-1151. doi: 10.1189/jlb.5A1016-445R. Epub 2017 Jul 28.

PMID:
28754797
8.

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Horwitz MS, Corey SJ, Grimes HL, Tidwell T.

Hematol Oncol Clin North Am. 2013 Feb;27(1):19-41, vii. doi: 10.1016/j.hoc.2012.10.004. Epub 2012 Nov 7. Review.

9.

Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane.

Nanua S, Murakami M, Xia J, Grenda DS, Woloszynek J, Strand M, Link DC.

Blood. 2011 Mar 31;117(13):3539-47. doi: 10.1182/blood-2010-10-311704. Epub 2011 Feb 1.

10.

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

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.

Curr Opin Hematol. 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105. Review.

11.

Severe congenital neutropenia and the unfolded protein response.

Xia J, Link DC.

Curr Opin Hematol. 2008 Jan;15(1):1-7. Review.

PMID:
18043239
12.

ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.

Nustede R, Klimiankou M, Klimenkova O, Kuznetsova I, Zeidler C, Welte K, Skokowa J.

Br J Haematol. 2016 Jan;172(2):219-27. doi: 10.1111/bjh.13823. Epub 2015 Nov 16.

PMID:
26567890
13.

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.

Shu Z, Li XH, Bai XM, Zhang ZY, Jiang LP, Tang XM, Zhao XD.

Pediatr Infect Dis J. 2015 Feb;34(2):203-7. doi: 10.1097/INF.0000000000000522.

PMID:
25162927
14.

Characterization of mutant neutrophil elastase in severe congenital neutropenia.

Li FQ, Horwitz M.

J Biol Chem. 2001 Apr 27;276(17):14230-41. Epub 2001 Jan 26.

15.

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

van de Vosse E, Verhard EM, Tool AJ, de Visser AW, Kuijpers TW, Hiemstra PS, van Dissel JT.

Ann Hematol. 2011 Feb;90(2):151-8. doi: 10.1007/s00277-010-1056-4. Epub 2010 Aug 28.

16.

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, Rezaei N, Horwitz MS.

Hum Mutat. 2007 Sep;28(9):874-81.

PMID:
17436313
17.

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.

Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, Dinauer MC, Link DC.

Blood. 2007 Dec 15;110(13):4179-87. Epub 2007 Aug 30.

18.

Brief Report: A Novel ELANE Mutation Associated With Inflammatory Arthritis, Defective NETosis, and Recurrent Parvovirus Infection.

Thanarajasingam U, Jensen MA, Dorschner JM, Wampler Muskardin T, Ghodke-Puranik Y, Purmalek M, Eliopoulos E, Zervou MI, Goulielmos GN, Howard M, Kaplan MJ, Niewold TB.

Arthritis Rheumatol. 2017 Dec;69(12):2396-2401. doi: 10.1002/art.40314. Epub 2017 Nov 8.

PMID:
28881492
19.

Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis.

Grenda DS, Johnson SE, Mayer JR, McLemore ML, Benson KF, Horwitz M, Link DC.

Blood. 2002 Nov 1;100(9):3221-8.

20.

Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells.

Hiramoto T, Ebihara Y, Mizoguchi Y, Nakamura K, Yamaguchi K, Ueno K, Nariai N, Mochizuki S, Yamamoto S, Nagasaki M, Furukawa Y, Tani K, Nakauchi H, Kobayashi M, Tsuji K.

Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3023-8. doi: 10.1073/pnas.1217039110. Epub 2013 Feb 4.

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