Article
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 - 4 Aug 2020
De Rosa Gianluca, Andolfo Immacolata, Marra Roberta, Manna Francesco, Rosato Barbara Eleni, Iolascon Achille, Russo Roberta
Abstract excerpt
Congenital dyserythropoietic anemia type II (CDA II) is a hypo-productive anemia defined by ineffective erythropoiesis through maturation arrest of erythroid precursors. CDA II is an autosomal recessive disorder due to loss-of-function mutations in SEC23B. Currently, management of patients with CDA II is based on transfusions, splenectomy, or hematopoietic stem-cell transplantation. Several studies have...
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