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Mouse Models of Congenital Kidney Anomalies

  • Satu KuureEmail author
  • Hannu Sariola
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1236)

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects, which cause the majority of chronic kidney diseases in children. CAKUT covers a wide range of malformations that derive from deficiencies in embryonic kidney and lower urinary tract development, including renal aplasia, hypodysplasia, hypoplasia, ectopia, and different forms of ureter abnormalities. The majority of the genetic causes of CAKUT remain unknown. Research on mutant mice has identified multiple genes that critically regulate renal differentiation. The data generated from this research have served as an excellent resource to identify the genetic bases of human kidney defects and have led to significantly improved diagnostics. Furthermore, genetic data from human CAKUT studies have also revealed novel genes regulating kidney differentiation.

Notes

Acknowledgements

We would like to thank Dr. Carlton Bates, Dr. Cristina Cebrian, and Dr. Peter Hohenstein for insightful discussions and MSc Kristen Kurtzeborn for reviewing the manuscript for English language.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2020

Authors and Affiliations

  1. 1.GM-Unit, Helsinki Institute of Life Science, University of HelsinkiHelsinkiFinland
  2. 2.Stem Cells and Metabolism Research Program, Faculty of Medicine, University of HelsinkiHelsinkiFinland
  3. 3.Medicum, Faculty of Medicine, University of HelsinkiHelsinkiFinland
  4. 4.Paediatric Pathology, HUSLAB, Helsinki University Central HospitalHelsinkiFinland

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