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Published on: February 4, 2015
Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment
Jason E Cain1, Valeria Di Giovanni, Joanna Smeeton
1Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
Abstract:
Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice.
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