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1.

Learning Physiology From Inherited Kidney Disorders.

van der Wijst, Jenny; Belge, Hendrica; Bindels, René J M; Devuyst, Olivier.

Physiol Rev; 99(3): 1575-1653, 2019 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-31215303

2.

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A E; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G; Kistler, Andreas D; Wilson, Ian J; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J; Köttgen, Anna; Conlon, Peter J; Wiesener, Michael; Sayer, John A; Rampoldi, Luca; Devuyst, Olivier.

Proc Natl Acad Sci U S A; 119(33): e2114734119, 2022 08 16.

Artículo en Inglés | MEDLINE | ID: mdl-35947615

3.

Uromodulin: Roles in Health and Disease.

Schaeffer, Céline; Devuyst, Olivier; Rampoldi, Luca.

Annu Rev Physiol; 83: 477-501, 2021 02 10.

Artículo en Inglés | MEDLINE | ID: mdl-33566673

4.

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.

Krohn, Patrick; Rega, Laura Rita; Harvent, Marianne; Festa, Beatrice Paola; Taranta, Anna; Luciani, Alessandro; Dewulf, Joseph; Cremonesi, Alessio; Camassei, Francesca Diomedi; Hanson, James V M; Gerth-Kahlert, Christina; Emma, Francesco; Berquez, Marine; Devuyst, Olivier.

Hum Mol Genet; 31(13): 2262-2278, 2022 07 07.

Artículo en Inglés | MEDLINE | ID: mdl-35137071

5.

AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis.

Morelle, Johann; Marechal, Céline; Yu, Zanzhe; Debaix, Huguette; Corre, Tanguy; Lambie, Mark; Verduijn, Marion; Dekker, Friedo; Bovy, Philippe; Evenepoel, Pieter; Bammens, Bert; Selgas, Rafael; Bajo, Maria A; Coester, Annemieke M; Sow, Amadou; Hautem, Nicolas; Struijk, Dirk G; Krediet, Raymond T; Balligand, Jean-Luc; Goffin, Eric; Crott, Ralph; Ripoche, Pierre; Davies, Simon; Devuyst, Olivier.

N Engl J Med; 385(17): 1570-1580, 2021 10 21.

Artículo en Inglés | MEDLINE | ID: mdl-34670044

6.

Fasting influences aquaporin expression, water transport and adipocyte metabolism in the peritoneal membrane.

Costa, Ines P D; Hautem, Nicolas; Schiano, Gugliemo; Uchida, Shinichi; Nishino, Tomoya; Devuyst, Olivier.

Nephrol Dial Transplant; 38(6): 1408-1420, 2023 05 31.

Artículo en Inglés | MEDLINE | ID: mdl-36520078

7.

Uromodulin and its association with urinary metabolites: the German Chronic Kidney Disease Study.

Bächle, Helena; Sekula, Peggy; Schlosser, Pascal; Steinbrenner, Inga; Cheng, Yurong; Kotsis, Fruzsina; Meiselbach, Heike; Stockmann, Helena; Schönherr, Sebastian; Eckardt, Kai-Uwe; Devuyst, Olivier; Scherberich, Jürgen; Köttgen, Anna; Schultheiss, Ulla T.

Nephrol Dial Transplant; 38(1): 70-79, 2023 Jan 23.

Artículo en Inglés | MEDLINE | ID: mdl-35612992

8.

Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.

Joseph, Christina B; Mariniello, Marta; Yoshifuji, Ayumi; Schiano, Guglielmo; Lake, Jennifer; Marten, Jonathan; Richmond, Anne; Huffman, Jennifer E; Campbell, Archie; Harris, Sarah E; Troyanov, Stephan; Cocca, Massimiliano; Robino, Antonietta; Thériault, Sébastien; Eckardt, Kai-Uwe; Wuttke, Matthias; Cheng, Yurong; Corre, Tanguy; Kolcic, Ivana; Black, Corrinda; Bruat, Vanessa; Concas, Maria Pina; Sala, Cinzia; Aeschbacher, Stefanie; Schaefer, Franz; Bergmann, Sven; Campbell, Harry; Olden, Matthias; Polasek, Ozren; Porteous, David J; Deary, Ian J; Madore, Francois; Awadalla, Philip; Girotto, Giorgia; Ulivi, Sheila; Conen, David; Wuehl, Elke; Olinger, Eric; Wilson, James F; Bochud, Murielle; Köttgen, Anna; Hayward, Caroline; Devuyst, Olivier.

J Am Soc Nephrol; 33(3): 511-529, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35228297

9.

UMOD and the architecture of kidney disease.

Devuyst, Olivier; Bochud, Murielle; Olinger, Eric.

Pflugers Arch; 474(8): 771-781, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35881244

10.

An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.

Müller, Roman-Ulrich; Messchendorp, A Lianne; Birn, Henrik; Capasso, Giovambattista; Cornec-Le Gall, Emilie; Devuyst, Olivier; van Eerde, Albertien; Guirchoun, Patrick; Harris, Tess; Hoorn, Ewout J; Knoers, Nine V A M; Korst, Uwe; Mekahli, Djalila; Le Meur, Yannick; Nijenhuis, Tom; Ong, Albert C M; Sayer, John A; Schaefer, Franz; Servais, Aude; Tesar, Vladimir; Torra, Roser; Walsh, Stephen B; Gansevoort, Ron T.

Nephrol Dial Transplant; 37(5): 825-839, 2022 04 25.

Artículo en Inglés | MEDLINE | ID: mdl-35134221

11.

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.

Verploegen, Maartje F A; Vargas-Poussou, Rosa; Walsh, Stephen B; Alpay, Harika; Amouzegar, Atefeh; Ariceta, Gema; Atmis, Bahriye; Bacchetta, Justine; Bárány, Peter; Baron, Stéphanie; Bayrakci, Umut Selda; Belge, Hendrica; Besouw, Martine; Blanchard, Anne; Bökenkamp, Arend; Boyer, Olivia; Burgmaier, Kathrin; Calò, Lorenzo A; Decramer, Stéphane; Devuyst, Olivier; van Dyck, Maria; Ferraro, Pietro Manuel; Fila, Marc; Francisco, Telma; Ghiggeri, Gian Marco; Gondra, Leire; Guarino, Stefano; Hooman, Nakysa; Hoorn, Ewout J; Houillier, Pascal; Kamperis, Konstantinos; Kari, Jameela A; Konrad, Martin; Levtchenko, Elena; Lucchetti, Laura; Lugani, Francesca; Marzuillo, Pierluigi; Mohidin, Barian; Neuhaus, Thomas J; Osman, Abdaldafae; Papizh, Svetlana; Perelló, Manel; Rookmaaker, Maarten B; Conti, Valerie Said; Santos, Fernando; Sawaf, Ghalia; Serdaroglu, Erkin; Szczepanska, Maria; Taroni, Francesca; Topaloglu, Rezan.

Nephrol Dial Transplant; 37(12): 2474-2486, 2022 11 23.

Artículo en Inglés | MEDLINE | ID: mdl-35137195

12.

The Effect of Tolvaptan on BP in Polycystic Kidney Disease: A Post Hoc Analysis of the TEMPO 3:4 Trial.

Heida, Judith E; Gansevoort, Ron T; Torres, Vicente E; Devuyst, Olivier; Perrone, Ronald D; Lee, Jennifer; Li, Hui; Ouyang, John; Chapman, Arlene B.

J Am Soc Nephrol; 32(7): 1801-1812, 2021 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-33888577

13.

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

Schlingmann, Karl P; Renigunta, Aparna; Hoorn, Ewout J; Forst, Anna-Lena; Renigunta, Vijay; Atanasov, Velko; Mahendran, Sinthura; Barakat, Tahsin Stefan; Gillion, Valentine; Godefroid, Nathalie; Brooks, Alice S; Lugtenberg, Dorien; Lake, Jennifer; Debaix, Huguette; Rudin, Christoph; Knebelmann, Bertrand; Tellier, Stephanie; Rousset-Rouvière, Caroline; Viering, Daan; de Baaij, Jeroen H F; Weber, Stefanie; Palygin, Oleg; Staruschenko, Alexander; Kleta, Robert; Houillier, Pascal; Bockenhauer, Detlef; Devuyst, Olivier; Vargas-Poussou, Rosa; Warth, Richard; Zdebik, Anselm A; Konrad, Martin.

J Am Soc Nephrol; 32(6): 1498-1512, 2021 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-33811157

14.

Genetic insights into rapid kidney function decline.

Terzi, Fabiola; Devuyst, Olivier.

Kidney Int; 99(4): 805-808, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33745545

15.

Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.

Ponte, Belen; Sadler, Marie C; Olinger, Eric; Vollenweider, Peter; Bochud, Murielle; Padmanabhan, Sandosh; Hayward, Caroline; Kutalik, Zoltán; Devuyst, Olivier.

Kidney Int; 100(6): 1282-1291, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34634361

16.

A genome-wide association study suggests correlations of common genetic variants with peritoneal solute transfer rates in patients with kidney failure receiving peritoneal dialysis.

Mehrotra, Rajnish; Stanaway, Ian B; Jarvik, Gail P; Lambie, Mark; Morelle, Johann; Perl, Jeffrey; Himmelfarb, Jonathan; Heimburger, Olof; Johnson, David W; Imam, Talha H; Robinson, Bruce; Stenvinkel, Peter; Devuyst, Olivier; Davies, Simon J.

Kidney Int; 100(5): 1101-1111, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34197840

17.

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.

Emma, Francesco; Hoff, William Van't; Hohenfellner, Katharina; Topaloglu, Rezan; Greco, Marcella; Ariceta, Gema; Bettini, Chiara; Bockenhauer, Detlef; Veys, Koenraad; Pape, Lars; Hulton, Sally; Collin, Suzanne; Ozaltin, Fatih; Servais, Aude; Deschênes, Georges; Novo, Robert; Bertholet-Thomas, Aurélia; Oh, Jun; Cornelissen, Elisabeth; Janssen, Mirian; Haffner, Dieter; Ravà, Lucilla; Antignac, Corinne; Devuyst, Olivier; Niaudet, Patrick; Levtchenko, Elena.

Kidney Int; 100(5): 1112-1123, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34237326

18.

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Festa, Beatrice Paola; Berquez, Marine; Gassama, Alkaly; Amrein, Irmgard; Ismail, Hesham M; Samardzija, Marijana; Staiano, Leopoldo; Luciani, Alessandro; Grimm, Christian; Nussbaum, Robert L; De Matteis, Maria Antonietta; Dorchies, Olivier M; Scapozza, Leonardo; Wolfer, David Paul; Devuyst, Olivier.

Hum Mol Genet; 28(12): 1931-1946, 2019 06 15.

Artículo en Inglés | MEDLINE | ID: mdl-30590522

19.

Gout.

Devuyst, Olivier; Olinger, Eric; Köttgen, Anna.

N Engl J Med; 388(13): e47, 2023 Mar 30.

Artículo en Inglés | MEDLINE | ID: mdl-36988609

20.

Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis.

De Leo, Ester; Elmonem, Mohamed A; Berlingerio, Sante Princiero; Berquez, Marine; Festa, Beatrice Paola; Raso, Roberto; Bellomo, Francesco; Starborg, Tobias; Janssen, Manoe Jacoba; Abbaszadeh, Zeinab; Cairoli, Sara; Goffredo, Bianca Maria; Masereeuw, Rosalinde; Devuyst, Olivier; Lowe, Martin; Levtchenko, Elena; Luciani, Alessandro; Emma, Francesco; Rega, Laura Rita.

J Am Soc Nephrol; 31(7): 1522-1537, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32503896

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