Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome
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United States: American Society for Clinical Investigation
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Language
English
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United States: American Society for Clinical Investigation
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Contents
Shwachman-Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency, and bony abnormalities with an increased risk of myeloid neoplasia. Almost all cases of SDS result from biallelic mutations in Shwachman-Bodian-Diamond syndrome (SBDS). SBDS interacts with elongation factor-like 1 (EFL1) to displace eukaryotic initi...
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Full title
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11996912
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11996912
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ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI187778
