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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2008-11-3
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pubmed:abstractText |
Diamond-Blackfan anemia is a fatal congenital anemia characterized by a specific disruption in erythroid progenitor cell development. Approximately 25% of patients have mutations in the ribosomal protein RPS19 suggesting that Diamond-Blackfan anemia may be caused by a defect in ribosome biogenesis and translation. However, it is unclear how these defects specifically disrupt early erythropoiesis. Recent studies have shown that the retroviral receptor/heme exporter FLVCR1 is critical for early erythropoiesis. FLVCR1 null mice, despite dying in utero and having reduced myeloid and lymphoid cell growth, show a disruption in early erythropoiesis and have craniofacial and limb deformities similar to those found in some Diamond-Blackfan anemia patients.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1592-8721
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1617-26
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pubmed:meshHeading |
pubmed-meshheading:18815190-Age of Onset,
pubmed-meshheading:18815190-Alternative Splicing,
pubmed-meshheading:18815190-Anemia, Diamond-Blackfan,
pubmed-meshheading:18815190-Bone Marrow,
pubmed-meshheading:18815190-DNA Primers,
pubmed-meshheading:18815190-Erythropoiesis,
pubmed-meshheading:18815190-Female,
pubmed-meshheading:18815190-Gene Expression Regulation,
pubmed-meshheading:18815190-Genes, env,
pubmed-meshheading:18815190-Genetic Vectors,
pubmed-meshheading:18815190-Hematopoietic Stem Cells,
pubmed-meshheading:18815190-Humans,
pubmed-meshheading:18815190-Infant,
pubmed-meshheading:18815190-Infant, Newborn,
pubmed-meshheading:18815190-K562 Cells,
pubmed-meshheading:18815190-Male,
pubmed-meshheading:18815190-Membrane Transport Proteins,
pubmed-meshheading:18815190-Mutation,
pubmed-meshheading:18815190-Nuclear Family,
pubmed-meshheading:18815190-Polymerase Chain Reaction,
pubmed-meshheading:18815190-Receptors, Virus,
pubmed-meshheading:18815190-Reference Values,
pubmed-meshheading:18815190-Ribosomal Proteins
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pubmed:year |
2008
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pubmed:articleTitle |
Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.
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pubmed:affiliation |
The Hospital for Sick Children, Program in Cell Biology, Room 7129 Elm Wing, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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