Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations.

Haematologica - 1 May 2024

Zeidler Alexander, Borbaran-Bravo Natalia, Dannenmann Benjamin, Ritter Malte, Nasri Masoud, Klimiankou Maksim, Kandabarau Sergey, Zahabi Azadeh, König Josef, Zeidler Cornelia, Skokowa Julia, Welte Karl

Abstract excerpt

Mutations in the ELANE gene, encoding the neutrophil elastase (NE) protein, are responsible for most cyclic neutropenia (CyN) cases and approximately 25% of congenital neutropenia (CN) cases. In CN and in CyN, a median of 2.8% of CD34+ cells were early CD49f+ hematopoietic stem cells (eHSC) that did not express ELANE and thus escape from the unfolded protein response (UPR) caused by mutated NE. In CyN, the CD49f+...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Bone Marrow Failure Syndromes
Share to Granulocyte Colony-Stimulating Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoiesis

Share to Hematopoietic Stem Cells

Share to Leukocyte Elastase

Share to Neutropenia

Share to Neutrophils

Share to Transcription, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 37855057
DOI: 10.3324/haematol.2023.284033
PMCID: PMC11063862

Genes

ELANE
CD34
HLF
HOXA9
MEIS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations.PMID 37855057Read ↗

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.Semantic proximity Read ↗

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.Semantic proximity Read ↗

A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.Semantic proximity Read ↗

ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.Semantic proximity Read ↗

Severe congenital neutropenia and the unfolded protein responseSemantic proximity Read ↗

Neutrophil elastase in cyclic and severe congenital neutropenia.Semantic proximity Read ↗

Neutrophil Elastase Defects in Congenital Neutropenia.Semantic proximity Read ↗

Four novel ELANE mutations in patients with congenital neutropenia.Semantic proximity Read ↗

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.Semantic proximity Read ↗

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.Semantic proximity Read ↗

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsSemantic proximity Read ↗

Mutant elastase in pathogenesis of cyclic and severe congenital neutropenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.