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

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.

Blood - 11 Mar 2021

Schürch Christoph, Schaefer Thorsten, Müller Joëlle S, Hanns Pauline, Arnone Marlon, Dumlin Alain, Schärer Jonas, Sinning Irmgard, Wild Klemens, Skokowa Julia, Welte Karl, Carapito Raphael, Bahram Seiamak, Konantz Martina, Lengerke Claudia

Abstract excerpt

Heterozygous de novo missense variants of SRP54 were recently identified in patients with congenital neutropenia (CN) who display symptoms that overlap with Shwachman-Diamond syndrome (SDS). Here, we investigate srp54 knockout zebrafish as the first in vivo model of SRP54 deficiency. srp54-/- zebrafish experience embryonic lethality and display multisystemic developmental defects along with severe neutropenia. In...

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 Gene Knockout Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HL-60 Cells

Share to Neutropenia

Share to RNA Splicing

Share to Signal Recognition Particle

Share to X-Box Binding Protein 1

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 33227812
DOI: 10.1182/blood.2020008115
PMCID: PMC7994924

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.PMID 33227812Read ↗

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.Semantic proximity Read ↗

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.Semantic proximity Read ↗

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.Semantic proximity Read ↗

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.Semantic proximity Read ↗

Severe congenital neutropenia, SRP54 pathogenicity, and a Framework for SurveillanceSemantic proximity Read ↗

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

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

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.Semantic proximity Read ↗

Congenital neutropenia: disease models guiding new treatment strategies.Semantic proximity Read ↗

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

Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein responseSemantic proximity Read ↗

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.Semantic proximity Read ↗

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