Article
Codanin-1 mutations engineered in human erythroid cells demonstrate role of CDAN1 in terminal erythroid maturation.
Experimental hematology - 1 Nov 2020
Murphy Zachary C, Getman Michael R, Myers Jaquelyn A, Burgos Villar Kimberly N, Leshen Emily, Kurita Ryo, Nakamura Yukio, Steiner Laurie A
Abstract excerpt
The generation of a functional erythrocyte from a committed progenitor requires significant changes in gene expression during hemoglobin accumulation, rapid cell division, and nuclear condensation. Congenital dyserythropoietic anemia type I (CDA-I) is an autosomal recessive disease that presents with erythroid hyperplasia in the bone marrow. Erythroblasts in patients with CDA-I are frequently binucleate and have...
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