title: PAX2 in human kidney malformations and disease.
abstract: Human PAX2 mutations have been associated with abnormalities in the developing and adult kidney ranging from congenital abnormalities of the kidney and urinary tract (CAKUT) to oncogenic processes. Defining the relationship of PAX2 to human renal disease requires an appreciation of its fundamental role in renal development. Given the highly conserved nature of the PAX2 gene in vertebrates, it is not surprising that much of our understanding of PAX2 involvement in renal disease has been derived from animal models. The following review will outline the current evidence supporting involvement of PAX2 in the pathologic processes involving the kidney.
authors.affiliation: Department of Pediatrics, Division of Nephrology, Dialysis & Transplantation, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
authors.forename: Lyndsay A
authors.initials: LA
authors.lastname: Harshman
authors.forename: Patrick D
authors.initials: PD
authors.lastname: Brophy
mesh_terms: D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000235:genetics*; D051762:PAX2 Transcription Factor / Q000235:genetics*
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human