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Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in ChildhoodWhole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.Dysregulation of RNA polymerase I transcription during disease.In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature.Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B.The p53 pathway in hematopoiesis: lessons from mouse models, implications for humans.Transcriptomic and epigenomic characterization of the developing bat wing.Genetic predispositions to childhood leukemia.Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.Ribosome biogenesis in the yeast Saccharomyces cerevisiaeDysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients.Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia.CRISPR-Cas9 technology and its application in haematological disorders.Emerging cellular and gene therapies for congenital anemias.Mechanistic insight into eukaryotic 60S ribosomal subunit biogenesis by cryo-electron microscopyThe Stomatological Complications of Diamond-Blackfan Anemia: A Case Report.Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.Rare Genetic Blood Disease Modeling in Zebrafish
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Diamond Blackfan anemia.
@en
Diamond Blackfan anemia.
@nl
type
label
Diamond Blackfan anemia.
@en
Diamond Blackfan anemia.
@nl
prefLabel
Diamond Blackfan anemia.
@en
Diamond Blackfan anemia.
@nl
P1476
Diamond Blackfan anemia.
@en
P2093
Sarah Ball
P304
P356
10.1182/ASHEDUCATION-2011.1.487
P577
2011-01-01T00:00:00Z