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Article

PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.

Blood advances - 9 Feb 2021

Olofsen Patricia A, Bosch Dennis A, Roovers Onno, van Strien Paulina M H, de Looper Hans W J, Hoogenboezem Remco M, Barnhoorn Sander, Mastroberardino Pier G, Ghazvini Mehrnaz, van der Velden Vincent H J, Bindels Eric M J, de Pater Emma M, Touw Ivo P

Abstract excerpt

Mutations in ELANE cause severe congenital neutropenia (SCN), but how they affect neutrophil production and contribute to leukemia predisposition is unknown. Neutropenia is alleviated by CSF3 (granulocyte colony-stimulating factor) therapy in most cases, but dose requirements vary between patients. Here, we show that CD34+CD45+ hematopoietic progenitor cells (HPCs) derived from induced pluripotent stem cell lines...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33560392
DOI: 10.1182/bloodadvances.2020003214
PMCID: PMC7876869

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.PMID 33560392Read ↗

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A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA.Semantic proximity Read ↗

CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patientsSemantic proximity Read ↗

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