Citations for
1CTSG, 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
2ELA2, 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
3ELA2, ELANE, NOTCH2NL
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
4ELA2, 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
5ELA2, 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
6ELA2, 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
7ELA2, 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
8ELA2, 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