Clinical spectrum and molecular pathophysiology of Shwachman–Diamond syndrome
JN Huang, A Shimamura - Current opinion in hematology, 2011 - journals.lww.com
JN Huang, A Shimamura
Current opinion in hematology, 2011•journals.lww.comSDS is a multisystemic disease arising from defects in a protein that participates in several
essential cellular processes. Elucidating the molecular function of SBDS will provide
important insights into how defects in ribosome biogenesis and mitotic spindle stabilization
result in hematopoietic failure, cancer predisposition, and abnormalities.
essential cellular processes. Elucidating the molecular function of SBDS will provide
important insights into how defects in ribosome biogenesis and mitotic spindle stabilization
result in hematopoietic failure, cancer predisposition, and abnormalities.
Summary
SDS is a multisystemic disease arising from defects in a protein that participates in several essential cellular processes. Elucidating the molecular function of SBDS will provide important insights into how defects in ribosome biogenesis and mitotic spindle stabilization result in hematopoietic failure, cancer predisposition, and abnormalities.
Lippincott Williams & Wilkins