Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.

Clinical Journal of the American Society of Nephrology : CJASN
Elisa Molinari, John A Sayer

Abstract

The class of human genetic kidney diseases is extremely broad and heterogeneous. Accordingly, the range of associated disease phenotypes is highly variable. Many children and adults affected by inherited kidney disease will progress to ESKD at some point in life. Extensive research has been performed on various different disease models to investigate the underlying causes of genetic kidney disease and to identify disease mechanisms that are amenable to therapy. We review some of the research highlights that, by modeling inherited kidney disease, contributed to a better understanding of the underlying pathomechanisms, leading to the identification of novel genetic causes, new therapeutic targets, and to the development of new treatments. We also discuss how the implementation of more efficient genome-editing techniques and tissue-culture methods for kidney research is providing us with personalized models for a precision-medicine approach that takes into account the specificities of the patient and the underlying disease. We focus on the most common model systems used in kidney research and discuss how, according to their specific features, they can differentially contribute to biomedical research. Unfortunately, no definitive t...Continue Reading

References

Aug 27, 1993·Cell·J A KreidbergR Jaenisch
Apr 1, 1993·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·J NautaE D Avner
Dec 1, 1996·Genes & Development·D CosgroveG C Samuelson
Oct 6, 2001·Annals of Clinical Biochemistry·J A Sayer, S H Pearce
Feb 13, 2002·The American Journal of Pathology·Kaya L AndrewsJeffrey H Miner
Sep 20, 2002·Journal of the American Society of Nephrology : JASN·Bradley K YoderLisa M Guay-Woodford
Oct 9, 2002·Molecular and Cellular Biology·Stéphanie CherquiCorinne Antignac
Apr 12, 2003·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Cathy CogswellElizabeth C Bryda
Nov 7, 2003·Nature·Danwei HuangfuKathryn V Anderson
Jan 1, 2004·Molecular and Cellular Biology·Séverine RoselliCorinne Antignac
Mar 3, 2004·Nature Medicine·Vicente E TorresVincent H Gattone
Mar 19, 2004·The EMBO Journal·Lionel GreshMarco Pontoglio
Nov 4, 2004·American Journal of Physiology. Renal Physiology·Sebastian BachmannSatish Kumar
Feb 25, 2005·Journal of the American Society of Nephrology : JASN·Xiaofang WangVicente E Torres
Dec 13, 2005·Nature Reviews. Genetics·Friedhelm Hildebrandt, Edgar Otto
May 25, 2006·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Ming Yang ChangAlbert C M Ong
Aug 25, 2006·Journal of the American Society of Nephrology : JASN·Laurie A SmithOxana Ibraghimov-Beskrovnaya
Nov 24, 2006·Nature·Nikolay O BukanovOxana Ibraghimov-Beskrovnaya
Oct 13, 2007·Science·Sabeeha S MerchantArthur R Grossman
Oct 25, 2008·Annual Review of Medicine·Peter C Harris, Vicente E Torres
Oct 23, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Nathalie NevoCorinne Antignac
Mar 23, 2010·Nature Cell Biology·Antonia BorovinaBrian Ciruna
May 14, 2010·American Journal of Physiology. Renal Physiology·Weibin ZhouFriedhelm Hildebrandt

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