Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

Hereditary neutropenia is usually caused by heterozygous germline mutations in the ELANE gene encoding neutrophil elastase (NE). How mutations cause disease remains uncertain, but two hypotheses have been proposed. In one, ELANE mutations lead to mislocalization of NE. In the other, ELANE mutations...

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Hlavní autoři: Tidwell, Timothy, Wechsler, Jeremy, Nayak, Ramesh C., Trump, Lisa, Salipante, Stephen J., Cheng, Jerry C., Donadieu, Jean, Glaubach, Taly, Corey, Seth J., Grimes, H. Leighton, Lutzko, Carolyn, Cancelas, Jose A., Horwitz, Marshall S.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2014
Témata:
Phagocytes, Granulocytes, and Myelopoiesis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3901069/
https://ncbi.nlm.nih.gov/pubmed/24184683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-07-513242
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