Not logged in Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome Saei, Hassan; Estebe, Bruno; Goudin, Nicolas; Esmailpour, Mahsa; Haure, Julie; Gribouval, Olivier; Arrondel, Christelle; Moriniere, Vincent; Tian, Pinyuan; Lennon, Rachel; Antignac, Corinne; Mollet, Geraldine; Dorval, Guillaume Share Save
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease Petzold, Friederike; Jeanpierre, Cecile; Chen, Xiaoyi; Moriniere, Vincent; Benmerah, Alexandre; Dorval, Guillaume; Saei, Hassan; Heidet, Laurence; Antignac, Corinne; Saunier, Sophie Share Save
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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism Marsili, Luisa; Mantecon, Matthieu; Arrondel, Christelle; Barcia, Giulia; Assouline, Zahra; Gribouval, Olivier; Wellesley, Diana; Harrison, Victoria; Marijon, Pierre; Colson, Cindy; Stichelbout, Morgane; Gubler, Marie-Claire; Antignac, Corinne; Rotig, Agnes; Heidet, Laurence Share Save
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique Kachmar, J; Saei, H; Morinière, V; Heidet, L; Knebelmann, B; Gribouval, O; Mautret-Godefroy, M; Burtey, S; Vuiblet, V; Alla, A; Ibalanky, A; Moranne, O; Nizon, M; Savenkoff, B; Nitschké, P; Antignac, C; Dorval, G Share Save
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence Kachmar, Jessica; Boyer, Olivia; Lipska-Zietkiewicz, Beata; Moriniere, Vincent; Gribouval, Olivier; Heidet, Laurence; Balasz-Chmielewska, Irena; Benetti, Elisa; Cloarec, Sylvie; Csaicsich, Dagmar; Decramer, Stephane; Gellermann, Jutta; Guigonis, Vincent; Hogan, Julien; Bayazit, Aysun Karabay; Melk, Anette; Nigmatullina, Nazym; Oh, Jun; Ozaltin, Fatih; Ranchin, Bruno; Tsimaratos, Michel; Trautmann, Agnes; Antignac, Corinne; Schaefer, Franz; Dorval, Guillaume Share Save
A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome Kuzmuk, Valeryia; Pranke, Iwona; Rollason, Ruth; Butler, Matthew; Ding, Wen Y.; Beesley, Matthew; Waters, Aoife M.; Coward, Richard J.; Sessions, Richard; Tuffin, Jack; Foster, Rebecca R.; Mollet, Geraldine; Antignac, Corinne; Edelman, Aleksander; Welsh, Gavin I.; Saleem, Moin A. Share Save
Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content Rega, L. R.; Janssens, V.; Graversen, J. H.; Moestrup, S. K.; Cairoli, S.; Goffredo, B. M.; Nevo, N.; Courtoy, G. E.; Jouret, F.; Antignac, C.; Emma, F.; Pierreux, C. E.; Courtoy, P. J. Share Save
Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome Ding, Wen Y.; Kuzmuk, Valeryia; Hunter, Sarah; Lay, Abigail; Hayes, Bryony; Beesley, Matthew; Rollason, Ruth; Hurcombe, Jennifer A.; Barrington, Fern; Masson, Catrin; Cathery, William; May, Carl; Tuffin, Jack; Roberts, Timothy; Mollet, Geraldine; Chu, Colin J.; McIntosh, Jenny; Coward, Richard J.; Antignac, Corinne; Nathwani, Amit; Welsh, Gavin I.; Saleem, Moin A. Share Save
A wave of deep intronic mutations in X-linked Alport syndrome Boisson, Marie; Arrondel, Christelle; Cagnard, Nicolas; Moriniere, Vincent; Arkoub, Zaina Ait; Saei, Hassan; Heidet, Laurence; Kachmar, Jessica; Hummel, Aurelie; Knebelmann, Bertrand; Bonnet-Dupeyron, Marie-Noelle; Isidor, Bertrand; Izzedine, Hassane; Legrand, Eric; Couarch, Philippe; Gribouval, Olivier; Bole-Feysot, Christine; Parisot, Melanie; Nitschke, Patrick; Antignac, Corinne; Dorval, Guillaume Share Save
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Moriniere, Vincent; Krug, Pauline; Jeanpierre, Cecile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie Share Save
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Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis Cherqui, S; Sevin, C; Hamard, G; Kalatzis, V; Sich, M; Pequignot, MO; Gogat, K; Abitbol, M; Broyer, M; Gubler, MC; Antignac, C Share Save
A slit-diaphragm-associated protein network for dynamic control of renal filtration Kocylowski, Maciej K.; Aypek, Hande; Bildl, Wolfgang; Helmstaedter, Martin; Trachte, Philipp; Dumoulin, Bernhard; Wittoesch, Sina; Kuhne, Lukas; Aukschun, Ute; Teetzen, Carolin; Kretz, Oliver; Gaal, Botond; Kulik, Akos; Antignac, Corinne; Mollet, Geraldine; Koettgen, Anna; Goecmen, Burulca; Schwenk, Jochen; Schulte, Uwe; Huber, Tobias B.; Fakler, Bernd; Grahammer, Florian Share Save
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function (vol 130, pg 335, 2020) Bedin, Mathilda; Boyer, Olivia; Servais, Aude; Li, Yong; Villoing-Gaude, Laure; Tete, Marie-Josephe; Cambier, Alexandra; Hogan, Julien; Baudouin, Veronique; Krid, Saoussen; Bensman, Albert; Lammens, Florie; Louillet, Ferielle; Ranchin, Bruno; Vigneau, Cecile; Bouteau, Iseline; Isnard-Bagnis, Corinne; Mache, Christoph J.; Schafer, Tobias; Pape, Lars; Godel, Markus; Huber, Tobias B.; Benz, Marcus; Klaus, Gunter; Hansen, Matthias; Latta, Kay; Gribouval, Olivier; Moriniere, Vincent; Tournant, Carole; Grohmann, Maik; Kuhn, Elisa; Wagner, Timo; Bole-Feysot, Christine; Jabot-Hanin, Fabienne; Nitschke, Patrick; Ahluwalia, Tarunveer S.; Kottgen, Anna; Andersen, Christian Brix Folsted; Bergmann, Carsten; Antignac, Corinne; Simons, Matias Share Save
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Koettgen, Anna; Cornec-Le Gall, Emilie; Halbritter, Jan; Kiryluk, Krzysztof; Mallett, Andrew J.; Parekh, Rulan S.; Rasouly, Hila Milo; Sampson, Matthew G.; Tin, Adrienne; Antignac, Corinne; Ars, Elisabet; Bergmann, Carsten; Bleyer, Anthony J.; Bockenhauer, Detlef; Devuyst, Olivier; Florez, Jose C.; Fowler, Kevin J.; Franceschini, Nora; Fukagawa, Masafumi; Gale, Daniel P.; Gbadegesin, Rasheed A.; Goldstein, David B.; Grams, Morgan E.; Greka, Anna; Gross, Oliver; Guay-Woodford, Lisa M.; Harris, Peter C.; Hoefele, Julia; Hung, Adriana M.; Knoers, Nine V. A. M.; Kopp, Jeffrey B.; Kretzler, Matthias; Lanktree, Matthew B.; Lipska-Zietkiewicz, Beata S.; Nicholls, Kathleen; Nozu, Kandai; Ojo, Akinlolu; Parsa, Afshin; Pattaro, Cristian; Pei, York; Pollak, Martin R.; Rhee, Eugene P.; Sanna-Cherchi, Simone; Savige, Judy; Sayer, John A.; Scolari, Francesco; Sedor, John R.; Sim, Xueling; Somlo, Stefan; Susztak, Katalin; Tayo, Bamidele O.; Torra, Roser; van Eerde, Albertien M.; Weinstock, Andre; Winkler, Cheryl A.; Wuttke, Matthias; Zhang, Hong; King, Jennifer M.; Cheung, Michael; Jadoul, Michel; Winkelmayer, Wolfgang C.; Gharavi, Ali G. Share Save
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies Garcia, Hugo; Serafin, Alice S.; Silbermann, Flora; Poree, Esther; Viau, Amandine; Mahaut, Clementine; Billot, Katy; Birgy, Eleonore; Garfa-Traore, Meriem; Roy, Stephanie; Ceccarelli, Salome; Mehraz, Manon; Rodriguez, Pamela C.; Deleglise, Berangere; Furio, Laetitia; Jabot-Hanin, Fabienne; Cagnard, Nicolas; Del Nery, Elaine; Fila, Marc; Sin-Monnot, Soraya; Antignac, Corinne; Lyonnet, Stanislas; Krug, Pauline; Salomon, Remi; Annereau, Jean-Philippe; Benmerah, Alexandre; Delous, Marion; Briseno-Roa, Luis; Saunier, Sophie Share Save
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis Emma, Francesco; van't Hoff, William; Hohenfellner, Katharina; Topaloglu, Rezan; Greco, Marcella; Ariceta, Gema; Bettini, Chiara; Bockenhauer, Detlef; Veys, Koenraad; Pape, Lars; Hulton, Sally; Collin, Suzanne; Ozaltin, Fatih; Servais, Aude; Deschenes, Georges; Novo, Robert; Bertholet-Thomas, Aurelia; Oh, Jun; Cornelissen, Elisabeth; Janssen, Mirian; Haffner, Dieter; Rava, Lucilla; Antignac, Corinne; Devuyst, Olivier; Niaudet, Patrick; Levtchenko, Elena Share Save
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations Tilley, F. C.; Arrondel, C.; Chhuon, C.; Boisson, M.; Cagnard, N.; Parisot, M.; Menara, G.; Lefort, N.; Guerrera, I. C.; Bole-Feysot, C.; Benmerah, A.; Antignac, C.; Mollet, G. Share Save
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