Citations for
1ELANE
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 rthritis Rheumatol. 2017 Sep 7. doi: 10.1002/art.40314. [Epub ahead of print] 2017
2ELANE
Elastase inhibitors as potential therapies for ELANE-associated neutropenia.
Makaryan V, Kelley ML, Fletcher B, Bolyard AA, Aprikyan AA, Dale DC.
J Leukoc Biol 102(4):1143-1151. doi: 10.1189/jlb.5A1016-445R. Epub 2017 Jul 28. 2017
3DDIT3, EIF2AK3, ELANE
Human neutrophil elastase induces endothelial cell apoptosis by activating the PERK-CHOP branch of the unfolded protein response.
Grechowa I, Horke S, Wallrath A, Vahl CF, Dorweiler B.
FASEB J 31(9):3868-3881. doi: 10.1096/fj.201700012R. Epub 2017 May 15. 2017
4ELANE
Neutrophil elastase enhances the proliferation and decreases apoptosis of leukemia cells via activation of PI3K/Akt signaling.
Yang R, Zhong L, Yang XQ, Jiang KL, Li L, Song H, Liu BZ.
Mol Med Rep 13(5):4175-82. doi: 10.3892/mmr.2016.5051. Epub 2016 Mar 28. 2016
5ELANE, SCNP1
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 172(2):219-27. doi: 10.1111/bjh.13823. Epub 2015 Nov 16. 2016
6ELANE, F2RL1, TRPV4
Neutrophil Elastase Activates Protease-activated Receptor-2 (PAR2) and Transient Receptor Potential Vanilloid 4 (TRPV4) to Cause Inflammation and Pain.
Zhao P, Lieu T, Barlow N, Sostegni S, Haerteis S, Korbmacher C, Liedtke W, Jimenez-Vargas NN, Vanner SJ, Bunnett NW.
J Biol Chem 290(22):13875-87. doi: 10.1074/jbc.M115.642736. Epub 2015 Apr 15. 2015
7ELANE
Mechanism of tissue factor production by monocytes stimulated with neutrophil elastase.
Kawata J, Aoki M, Ishimaru Y, Ono T, Sagara K, Narahara S, Matsmoto T, Hirose E, Yamaguchi Y.
Blood Cells Mol Dis 54(2):206-9. doi: 10.1016/j.bcmd.2014.10.005. Epub 2014 Oct 30. 2015
8ELANE, PI3
The serine protease inhibitor elafin maintains normal growth control by opposing the mitogenic effects of neutrophil elastase.
Caruso JA, Akli S, Pageon L, Hunt KK, Keyomarsi K.
Oncogene 34(27):3556-67. doi: 10.1038/onc.2014.284. Epub 2014 Sep 8. 2015
9CXCR1, ELANE, F2RL1
An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils.
Bakele M, Lotz-Havla AS, Jakowetz A, Carevic M, Marcos V, Muntau AC, Gersting SW, Hartl D.
J Biol Chem 289(30):20516-25. 2014
10ELANE, SCNP1
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.
Cho HK, Jeon IS.
J Korean Med Sci 29(3):452-5. doi: 10.3346/jkms.2014.29.3.452. Epub 2014 Feb 27. 2014
11ELANE, EMILIN1
Neutrophil elastase-dependent cleavage compromises the tumor suppressor role of EMILIN1.
Pivetta E, Danussi C, Wassermann B, Modica TM, Del Bel Belluz L, Canzonieri V, Colombatti A, Spessotto P.
Matrix Biol 34:22-32. doi: 10.1016/j.matbio.2014.01.018. Epub 2014 Feb 7. 2014
12BPIFA1, ELANE
Human neutrophil elastase degrades SPLUNC1 and impairs airway epithelial defense against bacteria.
Jiang D, Wenzel SE, Wu Q, Bowler RP, Schnell C, Chu HW.
PLoS One 8(5):e64689. doi: 10.1371/journal.pone.0064689. Print 2013. 2013
13ELANE, F2RL1, MUC5AC
Neutrophil elastase induces MUC5AC secretion via protease-activated receptor 2.
Zhou J, Perelman JM, Kolosov VP, Zhou X.
Mol Cell Biochem 377(1-2):75-85. doi: 10.1007/s11010-013-1572-3. Epub 2013 Feb 8. 2013
14ELANE, NR1I2, PRTN3
Neutrophil elastase and proteinase-3 trigger G protein-biased signaling through proteinase-activated receptor-1 (PAR1).
Mihara K, Ramachandran R, Renaux B, Saifeddine M, Hollenberg MD.
J Biol Chem 288(46):32979-90. doi: 10.1074/jbc.M113.483123. Epub 2013 Sep 19. 2013
15CTSG, ELANE
Clathrin pit-mediated endocytosis of neutrophil elastase and cathepsin G by cancer cells.
Gregory AD, Hale P, Perlmutter DH, Houghton AM.
J Biol Chem 287(42):35341-50. doi: 10.1074/jbc.M112.385617. Epub 2012 Aug 22. 2012
16CTSG, ELANE
Sensor materials for the detection of human neutrophil elastase and cathepsin G activity in wound fluid.
Hasmann A, Gewessler U, Hulla E, Schneider KP, Binder B, Francesko A, Tzanov T, Schintler M, Van der Palen J, Guebitz GM, Wehrschuetz-Sigl E.
Exp Dermatol 20(6):508-13. doi: 10.1111/j.1600-0625.2011.01256.x. Epub 2011 Apr 13. 2011
17ELANE
Neutrophil elastase and myeloperoxidase regulate the formation of neutrophil extracellular traps.
Papayannopoulos V, Metzler KD, Hakkim A, Zychlinsky A.
J Cell Biol 191(3):677-91. doi: 10.1083/jcb.201006052. Epub 2010 Oct 25. 2010
18ELANE, PRTN3
Neutrophil elastase and proteinase 3 trafficking routes in myelomonocytic cells.
Källquist L, Rosén H, Nordenfelt P, Calafat J, Janssen H, Persson AM, Hansson M, Olsson I.
Exp Cell Res 316(19):3182-96. doi: 10.1016/j.yexcr.2010.08.016. Epub 2010 Sep 7. 2010
19ELANE, GFI1, N4BP2L2, SCNP2
Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.
Salipante SJ, Rojas ME, Korkmaz B, Duan Z, Wechsler J, Benson KF, Person RE, Grimes HL, Horwitz MS.
Mol Cell Biol 29(16):4394-405. Epub 2009 Jun 8.PMID: 19506020 2009
20ELANE, SCNP1
Ela2 mutations and clinical manifestations in familial congenital neutropenia.
Shiohara M, Shigemura T, Saito S, Tanaka M, Yanagisawa R, Sakashita K, Asada H, Ishii E, Koike K, Chin M, Kobayashi M, Koike K.
J Pediatr Hematol Oncol 31(5):319-24.PMID: 19415009 2009
21ELANE, SCNP1
Severe congenital neutropenia and the unfolded protein response.
Xia J, Link DC.
Curr Opin Hematol 15(1):1-7. Review.PMID: 18043239 2008
22ELANE, SCNP1
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 28(9):874-81. 2007
23ELANE
Proteolytic cleavage of annexin 1 by human leukocyte elastase.
Rescher U, Goebeler V, Wilbers A, Gerke V.
Biochim Biophys Acta 1763(11):1320-4. Epub 2006 Sep 1. 2006
24ELANE
ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.
Lausen J, Liu S, Fliegauf M, LŸbbert M, Werner MH.
Oncogene 25(9):1349-57. 2006
25CTSG, ELA2, ELANE, ELN, PRTN3
Human leukocyte elastase hydrolysis of peptides derived from human elastin exon 24.
Lombard C, Arzel L, Bouchu D, Wallach J, Saulnier J.
Biochimie 88(12):1915-21. Epub 2006 Aug 10. 2006
26ELA2, ELANE, SCNP1
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J.
Blood 103(11):4119-25. Epub 2004 Feb 12. 2004
27ELA2, ELANE, NOTCH2NLC
A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.
Duan Z, Li FQ, Wechsler J, Meade-White K, Williams K, Benson KF, Horwitz M.
Mol Cell Biol 24(1):58-70. 2004
28ELA2, ELANE, GFI1, SCNP2
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M.
Nat Genet 34(3):308-12. 2003
29ELA2, ELANE
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M.
Nat Genet 35(1):90-6. Epub 2003 Aug 03. 2003
30ELA2, ELANE, SCNP1
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC.
Blood 98(9):2645-50. 2001
31ELA2, ELANE, SCNP1
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M.
Blood 96(7):2317-22. 2000
32ELA2, ELANE
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC.
Nat Genet 23(4):433-6 1999
33AZU1, ELANE, PRTN3
Three human elastase-like genes coordinately expressed in the myelomonocyte lineage are organized as a single genetic locus on 19pter.
Zimmer M, Medcalf RL, Fink TM, Mattmann C, Lichter P, Jenne DE.
Proc Natl Acad Sci U S A 89 : 8215-8219. 1992
34ELANE
Myelomonocytic cell lineage expression of the neutrophil elastase gene.
Takahashi H, et al.
J Biol Chem 263 : 2543-2547. 1988