Mechanisms of inherited kidney disorders
Most relevant publications of the last few years
Papers
Ho TA, Godefroid N, Gruzon D, Haymann JP, Maréchal C, Wang X, Serra A, Pirson Y, Devuyst O.
Autosomal dominant polycystic kidney disease is associated with central and nephrogenic defects in osmoregulation.
Kidney Int. 2012 Jun 20. doi: 10.1038/ki.2012.22
Pernot E, Terryn S, Cheong SC, Markadieu N, Janas S, Blockmans M, Jacoby M, Pouillon V, Gayral S, Rossier BC, Beauwens R, Erneux C, Devuyst O*, Schurmans S*.
The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system.
Pflugers Arch. 2011
Dec;462(6):871-83
International Consortium for Blood Pressure Genome-Wide Association Studies.
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Nature. 2011 Sep
11;478(7367):103-9.
Vargas-Poussou R, Dahan K, Kahila D, et al.
Spectrum of mutations in Gitelman syndrome.
J Am Soc Nephrol.
2011 Apr;22(4):693-703
Böger CA, Chen MH, Tin A, et al.
CUBN is a gene locus for albuminuria.
J Am Soc Nephrol.
2011 Mar;22(3):555-70.
Stuiver M, Lainez S, Will C, et al.
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
Am J Hum Genet. 2011 Mar
11;88(3):333-43
Chambers JC, Zhang W, ..., Devuyst O, ... Navis G, Elliott P, Kooner JS.
Genetic loci influencing kidney function and chronic kidney disease.
Nat Genet. 2010,
42:373-375.
Bernascone I, Janas S, Ikehata M, Trudu M, Corbelli A, Schaeffer C, Rastaldi MP, Devuyst O, Rampoldi L.
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.
Hum Mol Genet. 2010,
19:2998-3010.
Tanaka K, Terryn S, Geffers L, Garbay S, Pontoglio M, Devuyst O.
The transcription factor HNF1alpha regulates the expression of the chloride-proton exchanger ClC-5 in the renal proximal tubule.
Am J Physiol Renal Physiol.
2010, 299:F1339-F1347.
Biver S*, Belge S*, Bourgeois S*, Van Vooren P, Nowik M, Scohy S, Houillier P, Szpirer J, Szpirer C, Wagner CA, Devuyst O*, Marini AM.
Impaired ammonium excretion, renal tubular acidosis and decreased male fertility in mice lacking the Rhcg rhesus factor.
Nature. 2008,
456:339-343. (*equal contribution)
Gailly P, Jouret F, Martin D, Cosyns JP, Nishita T, Antignac C, Willnow TE, Courtoy PJ, Scheinman SJ, Christensen EI, Devuyst O.
Type III carbonic anhydrase: A novel renal isoform that plays a role in proximal tubule dysfunction.
Kidney Int. 2008, 74:52-61.
Ahrabi AK, Terryn S, Valenti G, Caron N, Nielsen S, Horie S, Verbavatz JM, Devuyst O.
PKD1 haploinsufficiency causes a syndrome of inappropriate antidiuresis in mouse.
J Am Soc Nephrol. 2007, 18:1740-1753.
Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O.
Transcriptional and functional analyses of
SLC12A3 mutations : New clues for the pathogenesis of
Gitelman’s syndrome.
J Am Soc Nephrol. 2007, 18:1271-1283.
Jouret F, Bernard A, Hermans C, Dom G, Terryn S, Leal T, Lebecque P, Cassiman JJ, Scholte BJ, De Jonge HR, Courtoy PJ, Devuyst O.
Cystic fibrosis is associated with a defect in apical receptor-mediated endocytosis in mouse and human kidney.
J Am Soc Nephrol. 2007, 18:707-718.
Belge H, Gailly P, Schwaller B, Loffing J, Debaix H, Riveira-Munoz E, Beauwens R, Devogelaer JP, Hoenderop J, Bindels R, Devuyst O.
Renal expression of parvalbumin is critical for NaCl handling and response to diuretics.
Proc Natl
Acad Sci USA. 2007,
104:14849-14854.
Ni J, Verbavatz JM, Rippe A, Boisdé I, Moulin P, Rippe B, Verkman AS, Devuyst O.
Aquaporin-1 plays an essential role in water permeability and ultrafiltration during peritoneal dialysis.
Kidney Int. 20066, 69:1518-1525.
Gillerot G, Goffin E, Michel C, Evenepoel P, Van Biesen W, Tintiller M, Stenvinkel P, Heimburger O, Lindholm B, Nordfors L, Robert A, Devuyst O.
Genetic and clinical factors influence the baseline permeability of the peritoneal membrane.
Kidney Int. 2005, 67:2477-2487.
Christensen EI*, Devuyst O*, Dom G, Nielsen R, Van Der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ.
Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules.
Proc Natl Acad Sci USA. 2003, 100:8472-8477. (*equal contribution)
Technology
Jouret F, Courtoy PJ, Devuyst O.
Segmental and subcellular distribution of CFTR in the kidney.
Methods Mol Biol. 2011;741:285-99
Jouret F*, Walrand S*, Parreira KS, Courtoy PJ, Pauwels S, Devuyst O*, Jamar F*.
Single photon emission computed tomography (SPECT) for functional investigation of the proximal tubule in conscious mice.
Am J Physiol Renal Physiol.
2010, 298:F454-F460. (*equal contribution
Parreira KS, Debaix H, Cnops Y, Geffers L, Devuyst O.
Expression patterns of the aquaporin gene family during renal development: influence of genetic variability.
Pflügers Arch. 2009,
458:745-759.
Terryn S, Jouret F, Vandenabeele F, Smolders I, Moreels M, Devuyst O, Steels P, Van Kerkhove E.
A primary culture of mouse proximal tubular cells, established on collagen-coated membranes.
Am J Physiol Renal Physiol.
2007, 293:F476-F485.
Ni J, Cnops Y, Debaix H, Boisdé I, Verbavatz JM, Devuyst O.
Functional and molecular characterization of a peritoneal dialysis model in the C57BL/6J mouse.
Kidney Int. 2005, 67:2021-2031.
Reviews
Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O.
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.
Kidney Int. 2011 Aug;80(4):338-4
Terryn S, Ho A, Beauwens R, Devuyst O.
Fluid transport and cystogenesis in autosomal dominant polycystic kidney disease.
Biochim Biophys Acta. 2011 Oct;1812(10):1314-21
Wagner CA, Devuyst O, Belge H, Bourgeois S, Houillier P.
The Rhesus protein RhCG: a new perspective in ammonium transport and distal urinary acidification.
Kidney Int 2011; 79: 154-161
Terryn S, Devuyst O.
Oxidative stress in the kidney: Proximal tubule disorders.
In Oxidative Stress in Applied Basic Research and Clinical Practice –
Studies on Renal Disorders, Miyata T, Eckardt KU,
Nangaku M (Eds.), 1st ed., Humana Press
and Springer Science, pp. 179-203, 2011
Devuyst O, Konrad M, Jeunemaitre X.
Tubular disorders of electrolyte regulation.
In: Pediatric Nephrology, Avner ED, Harmon WE, Niaudet P, Yoshikawa N (Eds.), 6th ed.,
Springer, New York, pp. 929-978, 2009
Devuyst O, Margetts PJ, Topley N.
The pathophysiology of the peritoneal membrane.
J Am Soc Nephrol.
2010, 21:1077-108
Devuyst O, Thakker RV.
Dent’s disease.
Orphanet J Rare Dis. 2010, 5:28.
Jouret F, Devuyst O.
CFTR and defective endocytosis: New insights in the renal phenotype of cystic fibrosis.
Pflügers Arch. 2009,
457:1227-1236.
Devuyst O.
Salt wasting and blood pressure.
Nat Genet. 2008,
40:495-496.
Devuyst O, Pirson Y.
Genetics of hypercalciuric stone forming diseases.
Kidney Int. 2007, 72:1065-1072.