Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

doi:10.1086/344781

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Article

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

American journal of human genetics - 1 Dec 2002

Dgany Orly, Avidan Nili, Delaunay Jean, Krasnov Tatyana, Shalmon Lea, Shalev Hanna, Eidelitz-Markus Tal, Kapelushnik Joseph, Cattan Daniel, Pariente Alexandre, Tulliez Michel, Crétien Aurore, Schischmanoff Pierre-Olivier, Iolascon Achille, Fibach Eithan, Koren Ariel, Rössler Jochen, Le Merrer Martine, Yaniv Isaac, Zaizov Rina, Ben-Asher Edna, Olender Tsvyia, Lancet Doron, Beckmann Jacques S, Tamary Hannah

Abstract excerpt

Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into...

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Identifiers

PMID: 12434312
DOI: 10.1086/344781
PMCID: PMC378595

Genes

CDAN1
CDA

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.PMID 12434312Read ↗

Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in Congenital dyserythropoietic anemia type I diseaseSemantic proximity Read ↗

Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.Semantic proximity Read ↗

Genetic and functional insights into CDA-I prevalence and pathogenesis.Semantic proximity Read ↗

Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.Semantic proximity Read ↗

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type ISemantic proximity Read ↗

Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.Semantic proximity Read ↗

Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.Semantic proximity Read ↗

Inherited CDA-I disease: anemia-associated mutations disrupt CDIN1-Codanin1 complexSemantic proximity Read ↗

A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).Semantic proximity Read ↗

Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.Semantic proximity Read ↗

Clinical and molecular variability in congenital dyserythropoietic anaemia type I.Semantic proximity Read ↗

CDIN1-Codanin-1 complex defective in congenital dyserythropoietic anaemia type I is an RNA nuclease.Semantic proximity Read ↗

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