JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

doi:10.1038/ng.3069

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

Community

Back to search

Article

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Nature genetics - 1 Sept 2014

Boztug Kaan, Järvinen Päivi M, Salzer Elisabeth, Racek Tomas, Mönch Sebastian, Garncarz Wojciech, Gertz E Michael, Schäffer Alejandro A, Antonopoulos Aristotelis, Haslam Stuart M, Schieck Lena, Puchałka Jacek, Diestelhorst Jana, Appaswamy Giridharan, Lescoeur Brigitte, Giambruno Roberto, Bigenzahn Johannes W, Elling Ulrich, Pfeifer Dietmar, Conde Cecilia Domínguez, Albert Michael H, Welte Karl, Brandes Gudrun, Sherkat Roya, van der Werff Ten Bosch Jutte, Rezaei Nima, Etzioni Amos, Bellanné-Chantelot Christine, Superti-Furga Giulio, Penninger Josef M, Bennett Keiryn L, von Blume Julia, Dell Anne, Donadieu Jean, Klein Christoph

Abstract excerpt

The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals...

Read the complete abstract on PubMed

Topics

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

Share to Apoptosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Survival

Share to Congenital Bone Marrow Failure Syndromes

Share to Glycosylation

Share to Homeostasis

Share to Myeloid Cells

Share to Neutropenia

Share to Neutrophils

Source

Open in PubMed Open full text

Identifiers

PMID: 25129144
DOI: 10.1038/ng.3069
PMCID: PMC4829076

Genes

JAGN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25129144-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.PMID 25129144Read ↗

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.Semantic proximity Read ↗

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.Semantic proximity Read ↗

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.Semantic proximity Read ↗

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

JAGN1 mutation with distinct clinical features; two case reports and literature review.Semantic proximity Read ↗

JAGN1 mutations in severe congenital neutropenia.Semantic proximity Read ↗

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.Semantic proximity Read ↗

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.Semantic proximity Read ↗

Congenital neutropeniaSemantic proximity Read ↗

Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesisSemantic proximity Read ↗

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromesSemantic proximity Read ↗

Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.Semantic proximity Read ↗

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