Akiko ShimamuraSummaryAffiliation: University of Washington Country: USA Publications
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Publications
Pathophysiology and management of inherited bone marrow failure syndromesAkiko Shimamura
Pediatric Hematology Oncology, Fred Hutchinson Cancer Research Center and Seattle Children s Hospital, Seattle, WA, USA
Blood Rev 24:101-22. 2010..Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed...
SBDS protein expression patterns in the bone marrowTrisha E Wong
Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
Pediatr Blood Cancer 55:546-9. 2010..We conclude that SBDS protein levels vary widely between specific marrow lineages. Uniformly low SBDS protein expression levels distinguish the majority of SDS patients from controls or other marrow failure syndromes...
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndromeNicholas Burwick
Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
Semin Hematol 48:136-43. 2011..Both SDS and the 5q- syndrome represent important models of ribosome function and may inform future treatment strategies for the ribosomopathies...
Impaired ribosomal subunit association in Shwachman-Diamond syndromeNicholas Burwick
Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Blood 120:5143-52. 2012..In summary, we demonstrate an SBDS-dependent ribosome maturation defect in SDS patient cells. The role of ribosomal subunit joining in marrow failure warrants further investigation...
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatmentLauri Burroughs
Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D1 100, PO Box 19024, Seattle, WA 98109 1024, USA
Hematol Oncol Clin North Am 23:233-48. 2009..Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. This article focuses on the clinical presentation, diagnostic work-up, clinical management, and treatment of patients with Shwachman-Diamond syndrome...
