Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Mutations of the ELA2 gene encoding neutrophil elastase (NE) are responsible for most cases of SCN and cyclic neutropenia (CN), a related but milder disorder of granulopoiesis. However, the mechanisms by which these mutatio...

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Detalhes bibliográficos
Main Authors: Grenda, David S., Murakami, Mark, Ghatak, Jhuma, Xia, Jun, Boxer, Laurence A., Dale, David, Dinauer, Mary C., Link, Daniel C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2007
Assuntos:
Hematopoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2234798/
https://ncbi.nlm.nih.gov/pubmed/17761833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-11-057299
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