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

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.

Haematologica - 1 Nov 2013

Satchwell Timothy J, Pellegrin Stephanie, Bianchi Paola, Hawley Bethan R, Gampel Alexandra, Mordue Kathryn E, Budnik Annika, Fermo Elisa, Barcellini Wilma, Stephens David J, van den Akker Emile, Toye Ashley M

Abstract excerpt

Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma membrane. Despite ubiquitous expression of SEC23B, the effects of mutations in this gene are confined to the erythroid...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Dyserythropoietic, Congenital
Share to Blood properties and coagulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cells, Cultured

Share to Erythrocyte Function and Pathophysiology

Share to Erythropoiesis

Share to Mice, Inbred C57BL

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 23935019
DOI: 10.3324/haematol.2013.085522
PMCID: PMC3815181

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.PMID 23935019Read ↗

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.Semantic proximity Read ↗

Human SEC23B-deficient hematopoietic stem cell model of CDAII recapitulates erythroid and cell-cycle defectsSemantic proximity Read ↗

Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.Semantic proximity Read ↗

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Semantic proximity Read ↗

Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Semantic proximity Read ↗

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approachSemantic proximity Read ↗

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.Semantic proximity Read ↗

Identification of a Novel Compound Heterozygous SEC23B in a Chinese Child with Congenital Dyserythropoietic Anemia Type II.Semantic proximity Read ↗

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Semantic proximity Read ↗

The congenital dyserythropoieitic anemias: genetics and pathophysiology.Semantic proximity Read ↗

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.Semantic proximity Read ↗

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