Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
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Title
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach
Authors
Keywords
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Journal
BLOOD
Volume 122, Issue 13, Pages 2162-2166
Publisher
American Society of Hematology
Online
2013-08-13
DOI
10.1182/blood-2013-05-468223
References
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Related references
Note: Only part of the references are listed.- Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23
- (2013) M. Liljeholm et al. BLOOD
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- (2013) Julie A. Jaffray et al. BLOOD CELLS MOLECULES AND DISEASES
- Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
- (2013) Roberta Russo et al. BLOOD CELLS MOLECULES AND DISEASES
- Autoinflammatory bone disorders
- (2013) Henner Morbach et al. CLINICAL IMMUNOLOGY
- Structural basis for Arf6-MKLP1 complex formation on the Flemming body responsible for cytokinesis
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- Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply
- (2012) Katrine Ask et al. EMBO JOURNAL
- Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number
- (2012) V. G. Sankaran et al. GENES & DEVELOPMENT
- Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach
- (2012) A. Iolascon et al. HAEMATOLOGICA
- SEC23B is required for the maintenance of murine professional secretory tissues
- (2012) J. Tao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Two founder mutations in theSEC23Bgene account for the relatively high frequency of CDA II in the Italian population
- (2011) Roberta Russo et al. AMERICAN JOURNAL OF HEMATOLOGY
- Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1 localization in erythroblasts
- (2011) R. Renella et al. BLOOD
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- (2011) M. Siatecka et al. BLOOD
- New variant of unclassified congenital dyserythropoietic anaemia: the concept of the erythroid regulator?
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- Mendelian Disorders of Membrane Trafficking
- (2011) Maria Antonietta De Matteis et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
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- The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells
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- Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload
- (2010) David Buchbinder et al. PEDIATRIC TRANSPLANTATION
- A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia
- (2010) A. Samkari et al. PEDIATRICS
- Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene
- (2009) Eyal Shteyer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated
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- Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship
- (2009) A. Iolascon et al. HAEMATOLOGICA
- Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene
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- Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I
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