[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1093/nar/15.22.9601; PubMed=3479752 [NCBI, ExPASy, EBI, Israel, Japan]
Nakamura H.,
Okano K.,
Aoki Y.,
Shimizu H.,
Naruto M.;
"Nucleotide sequence of human bone marrow serine protease (medullasin) gene.";
Nucleic Acids Res. 15:9601-9601(1987).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2902087 [NCBI, ExPASy, EBI, Israel, Japan]
Takahashi H.,
Nukiwa T.,
Yoshimura K.,
Quick C.D.,
States D.J.,
Holmes M.D.,
Whang-Peng J.,
Knutsen T.,
Crystal R.G.;
"Structure of the human neutrophil elastase gene.";
J. Biol. Chem. 263:14739-14747(1988).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2775493 [NCBI, ExPASy, EBI, Israel, Japan]
Farley D.,
Travis J.,
Salvesen G.;
"The human neutrophil elastase gene. Analysis of the nucleotide sequence reveals three distinct classes of repetitive DNA.";
Biol. Chem. Hoppe-Seyler 370:737-744(1989).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0006-291X(90)90668-D; PubMed=2322278 [NCBI, ExPASy, EBI, Israel, Japan]
Okano K.,
Aoki Y.,
Shimizu H.,
Naruto M.;
"Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells.";
Biochem. Biophys. Res. Commun. 167:1326-1332(1990).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-219; LEU-257 AND LEU-262.
Livingston R.J.,
Rieder M.J.,
Chung M.-W.,
Ritchie T.K.,
Olson A.N.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Sherwood A.M.,
Leithauser B.J.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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NUCLEOTIDE SEQUENCE [MRNA] OF 30-267.
PubMed=2822677 [NCBI, ExPASy, EBI, Israel, Japan]
Okano K.,
Aoki Y.,
Sakurai T.,
Kajitani M.,
Kanai S.,
Shimazu T.,
Shimizu H.,
Naruto M.;
"Molecular cloning of complementary DNA for human medullasin: an inflammatory serine protease in bone marrow cells.";
J. Biochem. 102:13-16(1987).
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[8]
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PROTEIN SEQUENCE OF 30-247.
PubMed=3550808 [NCBI, ExPASy, EBI, Israel, Japan]
Sinha S.,
Watorek W.,
Karr S.,
Giles J.,
Bode W.,
Travis J.;
"Primary structure of human neutrophil elastase.";
Proc. Natl. Acad. Sci. U.S.A. 84:2228-2232(1987).
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[9]
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PRELIMINARY PROTEIN SEQUENCE OF 30-103.
Travis J.,
Giles P.J.,
Porcelli L.,
Reilly C.F.,
Baugh R.,
Powers J.;
(In) Protein degradation in health and disease, Ciba Foundation Symposium, pp.75:51-68, Excerpta Medica, Amsterdam and Oxford (1980).
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[10]
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PROTEIN SEQUENCE OF 30-49.
PubMed=2501794 [NCBI, ExPASy, EBI, Israel, Japan]
Gabay J.E.,
Scott R.W.,
Campanelli D.,
Griffith J.,
Wilde C.,
Marra M.N.,
Seeger M.,
Nathan C.F.;
"Antibiotic proteins of human polymorphonuclear leukocytes.";
Proc. Natl. Acad. Sci. U.S.A. 86:5610-5614(1989).
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[11]
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NUCLEOTIDE SEQUENCE [MRNA] OF 75-267.
PubMed=3422232 [NCBI, ExPASy, EBI, Israel, Japan]
Takahashi H.,
Nukiwa T.,
Basset P.,
Cystal R.G.;
"Myelomonocytic cell lineage expression of the neutrophil elastase gene.";
J. Biol. Chem. 263:2543-2547(1988).
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[12]
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NUCLEOTIDE SEQUENCE [MRNA] OF 123-267.
PubMed=2462434 [NCBI, ExPASy, EBI, Israel, Japan]
Farley D.,
Salvesen G.S.,
Travis J.;
"Molecular cloning of human neutrophil elastase.";
Biol. Chem. Hoppe-Seyler 369:3-7(1988).
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[13]
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PROTEIN SEQUENCE OF 262-267.
DOI=10.1016/0006-291X(91)90135-T; PubMed=1859409 [NCBI, ExPASy, EBI, Israel, Japan]
Aoki Y.,
Hase T.;
"The primary structure and elastinolytic activity of medullasin (a serine protease of bone marrow).";
Biochem. Biophys. Res. Commun. 178:501-506(1991).
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[14]
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FUNCTION.
DOI=10.1111/j.0906-6705.2004.00145.x; PubMed=15140022 [NCBI, ExPASy, EBI, Israel, Japan]
Tralau T.,
Meyer-Hoffert U.,
Schroder J.M.,
Wiedow O.;
"Human leukocyte elastase and cathepsin G are specific inhibitors of C5a-dependent neutrophil enzyme release and chemotaxis.";
Exp. Dermatol. 13:316-325(2004).
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[15]
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INTERACTION WITH NOTCH2NL, AND CHARACTERIZATION OF VARIANT CH GLN-191.
DOI=10.1128/MCB.24.1.58-70.2004; PubMed=14673143 [NCBI, ExPASy, EBI, Israel, Japan]
Duan Z.,
Li F.-Q.,
Wechsler J.,
Meade-White K.,
Williams K.,
Benson K.F.,
Horwitz M.;
"A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.";
Mol. Cell. Biol. 24:58-70(2004).
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[16]
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X-RAY CRYSTALLOGRAPHY (1.84 ANGSTROMS).
PubMed=2911584 [NCBI, ExPASy, EBI, Israel, Japan]
Navia M.A.,
McKeever B.M.,
Springer J.P.,
Lin T.-Y.,
Williams H.R.,
Fluder E.M.,
Dorn C.P.,
Hoogsteen K.;
"Structure of human neutrophil elastase in complex with a peptide chloromethyl ketone inhibitor at 1.84-A resolution.";
Proc. Natl. Acad. Sci. U.S.A. 86:7-11(1989).
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[17]
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X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS).
DOI=10.1016/0014-5793(88)80118-2; PubMed=3391280 [NCBI, ExPASy, EBI, Israel, Japan]
Wei A.-Z.,
Mayr I.,
Bode W.;
"The refined 2.3-A crystal structure of human leukocyte elastase in a complex with a valine chloromethyl ketone inhibitor.";
FEBS Lett. 234:367-373(1988).
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[18]
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X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS).
PubMed=3640709 [NCBI, ExPASy, EBI, Israel, Japan]
Bode W.,
Wei A.-Z.,
Huber R.,
Meyer E.,
Travis J.,
Neumann S.;
"X-ray crystal structure of the complex of human leukocyte elastase (PMN elastase) and the third domain of the turkey ovomucoid inhibitor.";
EMBO J. 5:2453-2458(1986).
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[19]
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VARIANTS CH VAL-32; PHE-177 AND GLN-191.
DOI=10.1038/70544; PubMed=10581030 [NCBI, ExPASy, EBI, Israel, Japan]
Horwitz M.,
Benson K.F.,
Person R.E.,
Aprikyan A.G.,
Dale D.C.;
"Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.";
Nat. Genet. 23:433-436(1999).
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[20]
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VARIANTS GFI1 THR-57; THR-60; SER-71; MET-101; LEU-126; LEU-139; VAL-210 AND ARG-214.
PubMed=11001877 [NCBI, ExPASy, EBI, Israel, Japan]
Dale D.C.,
Person R.E.,
Bolyard A.A.,
Aprikyan A.G.,
Bos C.,
Bonilla M.A.,
Boxer L.A.,
Kannourakis G.,
Zeidler C.,
Welte K.,
Benson K.F.,
Horwitz M.;
"Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.";
Blood 96:2317-2322(2000).
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[21]
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VARIANTS GFI1 TYR-55; GLU-85; PRO-GLN-LEU-123 INS; LEU-126; SER-151; 190-VAL--PHE-199 DEL AND ARG-205.
DOI=10.1182/blood.V98.9.2645; PubMed=11675333 [NCBI, ExPASy, EBI, Israel, Japan]
Ancliff P.J.,
Gale R.E.,
Liesner R.,
Hann I.M.,
Linch D.C.;
"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.";
Blood 98:2645-2650(2001).
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[22]
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VARIANT GFI1 ARG-71.
DOI=10.1182/blood-2002-01-0060; PubMed=12091371 [NCBI, ExPASy, EBI, Israel, Japan]
Ancliff P.J.,
Gale R.E.,
Watts M.J.,
Liesner R.,
Hann I.M.,
Strobel S.,
Linch D.C.;
"Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.";
Blood 100:707-709(2002).
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[23]
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VARIANTS GFI1 LEU-98 AND LEU-101, AND CHARACTERIZATION OF VARIANTS GFI1 LEU-98 AND LEU-101.
DOI=10.1002/humu.20529; PubMed=17436313 [NCBI, ExPASy, EBI, Israel, Japan]
Salipante S.J.,
Benson K.F.,
Luty J.,
Hadavi V.,
Kariminejad R.,
Kariminejad M.H.,
Rezaei N.,
Horwitz M.S.;
"Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.";
Hum. Mutat. 28:874-881(2007).
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