PMID: 9442362Jan 27, 1998Paper

Ion transporter mutations in Gitelman's and Bartter's syndromes

Current Opinion in Nephrology and Hypertension
D B Simon, R P Lifton

Abstract

The application of modern techniques in molecular genetics to classic diseases in clinical nephrology is highlighted by the recent description of the molecular basis of Bartter's and Gitelman's syndromes. A series of detailed studies are described that have resulted in the identification of specific mutations in four different genes, each of which causes hypokalemic alkalosis, salt wasting and hypotension. The importance of these genetic studies in understanding renal physiology and the regulation of blood pressure, and in developing new therapeutic strategies is discussed.

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Citations

Jul 5, 2001·Proceedings of the National Academy of Sciences of the United States of America·I ArrighiP Meneton
May 3, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Peter Gross
Sep 9, 2008·Journal of the American Society of Nephrology : JASN·Audrey G H JanssenChristoph Fahlke
Nov 2, 1999·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·M R AbrahamA Terzic
Nov 25, 1998·Proceedings of the National Academy of Sciences of the United States of America·G H KimM A Knepper
Sep 21, 2000·American Journal of Physiology. Renal Physiology·D H Ellison
Aug 21, 2002·Current Opinion in Nephrology and Hypertension·Ji-Bin Peng, Matthias A Hediger
Jun 16, 2001·Hypertension·D N CruzR P Lifton
Apr 2, 2003·Hypertension·Pasquale StrazzulloGianvincenzo Barba
Jan 23, 2003·The Journal of Pharmacology and Experimental Therapeutics·Tong Wang
Nov 13, 2001·American Journal of Physiology. Renal Physiology·V CâmpeanS Bachmann
Oct 12, 1999·The American Journal of Physiology·S KunchapartyD H Ellison
Apr 29, 2021·Médecine sciences : M/S·Éric Feraille, Valérie Olivier
Nov 26, 2003·Journal of the American Society of Nephrology : JASN·Patrick G J F StarremansRené J M Bindels
Jun 26, 2001·Journal of the American Society of Nephrology : JASN·Joost G J HoenderopRené J M Bindels

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