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