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Article

A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.

Blood advances - 13 Aug 2024

Doll Larissa, Welte Karl, Skokowa Julia, Bajoghli Baubak

Abstract excerpt

ABSTRACT: A variety of autosomal recessive mutations in the JAGN1 gene cause severe congenital neutropenia (CN). However, the underlying pathomechanism remains poorly understood, mainly because of the limited availability of primary hematopoietic stem cells from JAGN1-CN patients and the absence of animal models. In this study, we aimed to address these limitations by establishing a zebrafish model of JAGN1-CN....

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Identifiers

PMID: 38739706
DOI: 10.1182/bloodadvances.2023011656
PMCID: PMC11342096

Genes

JAGN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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