Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells

Severe congenital neutropenia (SCN) is often associated with inherited heterozygous point mutations in ELANE, which encodes neutrophil elastase (NE). However, a lack of appropriate models to recapitulate SCN has substantially hampered the understanding of the genetic etiology and pathobiology of thi...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Nayak, Ramesh C., Trump, Lisa R., Aronow, Bruce J., Myers, Kasiani, Mehta, Parinda, Kalfa, Theodosia, Wellendorf, Ashley M., Valencia, C. Alexander, Paddison, Patrick J., Horwitz, Marshall S., Grimes, H. Leighton, Lutzko, Carolyn, Cancelas, Jose A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563755/
https://ncbi.nlm.nih.gov/pubmed/26193632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI80924
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