Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation
Author:
Affiliation:
1. Department of Pathology,
2. Seattle Cancer Care Alliance, and
3. Department of Medicine, University of Washington School of Medicine, Seattle, WA
Abstract
Publisher
American Society of Hematology
Subject
Hematology
Link
http://ashpublications.org/bloodadvances/article-pdf/3/16/2470/1554601/advancesadv2019000498.pdf
Reference20 articles.
1. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis;Horwitz;Nat Genet,1999
2. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia;Dale;Blood,2000
3. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology;Horwitz;Hematol Oncol Clin North Am,2013
4. Severe congenital neutropenia and the unfolded protein response;Xia;Curr Opin Hematol,2008
5. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response;Köllner;Blood,2006
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3. Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia;Molecular Therapy - Methods & Clinical Development;2022-09
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