Article
MYH9 E1841K Mutation Augments Proteinuria and Podocyte Injury and Migration.
Journal of the American Society of Nephrology : JASN - 1 Jan 2018
Cechova Sylvia, Dong Fan, Chan Fang, Kelley Michael J, Ruiz Phillip, Le Thu H
Abstract excerpt
Intronic variants of the MYH9 gene that encodes the nonmuscle myosin heavy chain IIA are associated with diabetic nephropathy in European Americans and with sickle cell disease-associated nephropathy. However, the causal functional variants of MYH9 have remained elusive. Rare missense mutations in MYH9 cause macrothrombocytopenia and are occasionally associated with development of nephropathy. The E1841K mutation...
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