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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Clin Invest
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society for Clinical Investigation 2015
Θέματα:
Research Article
Διαθέσιμο Online: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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