title: Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment.
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.
authors.affiliation: Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
authors.forename: Jason E
authors.initials: JE
authors.lastname: Cain
authors.forename: Valeria
authors.initials: V
authors.lastname: Di Giovanni
authors.forename: Joanna
authors.initials: J
authors.lastname: Smeeton
authors.forename: Norman D
authors.initials: ND
authors.lastname: Rosenblum
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D019070:Cell Lineage; D002470:Cell Survival; D004777:Environment; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000033:anatomy & histology / Q000196:embryology; D007674:Kidney Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D008648:Mesoderm / Q000033:anatomy & histology / Q000502:physiology; D009154:Mutation; D009399:Nephrons / Q000002:abnormalities / Q000033:anatomy & histology / Q000196:embryology; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D013234:Stem Cells / Q000166:cytology / Q000502:physiology; D017154:Stromal Cells / Q000166:cytology / Q000502:physiology; D014513:Ureter / Q000166:cytology