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Items: 1 to 20 of 141

1.

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. 1999 Dec;23(4):433-6.

PMID:
10581030
3.

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. 2000 Oct 1;96(7):2317-22.

4.

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. 2003 Sep;35(1):90-6.

PMID:
12897784
5.

[Cyclic neutropenia. Detection of a mutation in the gene for neutrophil elastase (ELA2)].

Schiller M, Böhm M, Zeidler C, Germeshausen M, Welte K, Luger TA, Bonsmann G.

Hautarzt. 2001 Sep;52(9):790-6. German.

PMID:
11572070
6.

Cloning and sequencing of the canine neutrophil elastase cDNA.

Katen LJ, Aprikyan AG, Dale DC, Osborne WR.

DNA Seq. 2002 Aug;13(4):221-3.

PMID:
12487025
7.

Characterization of mutant neutrophil elastase in severe congenital neutropenia.

Li FQ, Horwitz M.

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

8.

Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia.

Aprikyan AA, Dale DC.

Curr Opin Immunol. 2001 Oct;13(5):535-8. Review.

PMID:
11543999
9.

Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia.

Dale DC, Liles WC, Garwicz D, Aprikyan AG.

J Pediatr Hematol Oncol. 2001 May;23(4):208-10. Review. No abstract available.

PMID:
11846296
10.

Cyclic neutropenia.

Dale DC, Bolyard AA, Aprikyan A.

Semin Hematol. 2002 Apr;39(2):89-94. Review.

PMID:
11957190
11.

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.

12.

Severe congenital neutropenia and the unfolded protein response.

Xia J, Link DC.

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

PMID:
18043239
13.

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
14.

Molecular screening of the neutrophil elastase gene in congenital neutropenia.

Thomas M, Jayandharan G, Chandy M.

Indian Pediatr. 2006 Dec;43(12):1081-4.

15.

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.

Carlsson G, Aprikyan AA, Ericson KG, Stein S, Makaryan V, Dale DC, Nordenskjöld M, Fadeel B, Palmblad J, Hentera JI.

Haematologica. 2006 May;91(5):589-95.

16.

Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.

Boxer LA, Stein S, Buckley D, Bolyard AA, Dale DC.

J Pediatr. 2006 May;148(5):633-6.

PMID:
16737875
17.

Hereditary neutropenia: dogs explain human neutrophil elastase mutations.

Horwitz M, Benson KF, Duan Z, Li FQ, Person RE.

Trends Mol Med. 2004 Apr;10(4):163-70. Review.

PMID:
15059607
18.

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia.

Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K.

Br J Haematol. 2001 Oct;115(1):222-4.

PMID:
11722436
19.

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.

20.

Neutrophil elastase mutations in congenital neutropenia.

Ancliff PJ, Gale RE, Linch DC.

Hematology. 2003 Jun;8(3):165-71. Review.

PMID:
12745650
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