ArticleBlood cells, molecules & diseases2013
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.
Article in Blood cells, molecules & diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 38 citations in OpenAlex.
- Additive effect of multiple genetic variants inHemaSphere · 2026Article
- RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.American journal of hematology · 2025Article
- First Case of a Dominant De NovoGenes · 2024Review
- New Cases and Mutations inInternational journal of molecular sciences · 2023Article
- SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.International journal of molecular sciences · 2022Article
- SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II.Science advances · 2021Article
- Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.Genes · 2021Article
- RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.International journal of molecular sciences · 2020Article
- Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.Frontiers in physiology · 2020Review
- Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.British journal of haematology · 2019Article
- The Functional Role of SEC23 in Vesicle Transportation, Autophagy and Cancer.International journal of biological sciences · 2019Review
- CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.Frontiers in physiology · 2019Article
- Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.Frontiers in physiology · 2019Article
- KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.Journal of pediatric hematology/oncology · 2018Article
- Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.American journal of human genetics · 2015Article
- Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Molecular and cellular biology · 2014Article
- Review
- Disease-Associated Factors at the Endoplasmic Reticulum-Golgi Interface.Traffic (Copenhagen, Denmark)Review
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first description of molecular mechanisms underlying SEC23B hypomorphic genotypes by the analysis of five novel mutations. Our findings suggest that reduction of SEC23B gene expression is not associated with CDA II severe clinical presentation; conversely, the combination of a hypomorphic allele with one functionally altered results in more severe phenotypes. We propose a mechanism of compensation SEC23A-mediated which justifies these observations.
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