Not logged in 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
Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases Smerkous, David; Mauer, Michael; Tondel, Camilla; Svarstad, Einar; Gubler, Marie-Claire; Nelson, Robert G.; Oliveira, Joao-Paulo; Sargolzaeiaval, Forough; Najafian, Behzad 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
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The renal inflammatory network of nephronophthisis Quatredeniers, Marceau; Bienaime, Frank; Ferri, Giulia; Isnard, Pierre; Poree, Esther; Billot, Katy; Birgy, Eleonore; Mazloum, Manal; Ceccarelli, Salome; Silbermann, Flora; Braeg, Simone; Nguyen-Khoa, Thao; Salomon, Remi; Gubler, Marie-Claire; Kuehn, E. Wolfgang; Saunier, Sophie; Viau, Amandine Share Save
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia Jordan, Penelope; Arrondel, Christelle; Bessieres, Bettina; Tessier, Aude; Attie-Bitach, Tania; Guterman, Sarah; Moriniere, Vincent; Antignac, Corinne; Saunier, Sophie; Gubler, Marie-Claire; Heidet, Laurence Share Save
Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease Fiorentino, Arianna; Christophorou, Armelle; Massa, Filippo; Garbay, Serge; Chiral, Magali; Ramsing, Mette; Rasmussen, Maria; Gubler, Marie-Claire; Bessieres, Bettina; Heidet, Laurence; Fischer, Evelyne; Pontoglio, Marco Share Save
Signaling pathways predisposing to chronic kidney disease progression Zaidan, Mohamad; Burtin, Martine; Zhang, Jitao David; Blanc, Thomas; Barre, Pauline; Garbay, Serge; Nguyen, Clement; Vasseur, Florence; Yammine, Lucie; Germano, Serena; Badi, Laura; Gubler, Marie-Claire; Gallazzini, Morgan; Friedlander, Gerard; Pontoglio, Marco; Terzi, Fabiola Share Save
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis Lobry, Tatiana; Miller, Roy; Nevo, Nathalie; Rocca, Celine J.; Zhang, Jinzhong; Catz, Sergio D.; Moore, Fiona; Thomas, Lucie; Pouly, Daniel; Bailleux, Anne; Guerrera, Ida Chiara; Gubler, Marie-Claire; Cheung, Wai W.; Mak, Robert H.; Montier, Tristan; Antignac, Corinne; Cherqui, Stephanie Share Save
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 eficiency in humans and flies (vol 14, e1007386, 2018) Goncalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussee, Noelle; Arrondel, Christelle; Helmstadter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlene; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B.; Wheeler, Patricia G.; Haynes, Devon; Juusola, Jane; de Villemeur, Thierry Billette; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias Share Save
Cilia-localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney Viau, Amandine; Bienaime, Frank; Lukas, Kamile; Todkar, Abhijeet P.; Knoll, Manuel; Yakulov, Toma A.; Hofherr, Alexis; Kretz, Oliver; Helmstaedter, Martin; Reichardt, Wilfried; Braeg, Simone; Aschman, Tom; Merkle, Annette; Pfeifer, Dietmar; Dumit, Veronica I.; Gubler, Marie-Claire; Nitschke, Roland; Huber, Tobias B.; Terzi, Fabiola; Dengjel, Jorn; Grahammer, Florian; Koettgen, Michael; Busch, Hauke; Boerries, Melanie; Walz, Gerd; Triantafyllopoulou, Antigoni; Kuehn, Wolfgang Share Save
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Goncalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussee, Noelle; Arrondel, Christelle; Helmstaedter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlene; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B.; Wheeler, Patricia G.; Haynes, Devon; Juusola, Jane; de Villemeur, Thierry Billette; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias Share Save
New interaction between galectin-3 and cystinosin reveals a role of inflammation in kidney pathogenesis in cystinosis Lobry, Tatiana; Miller, Roy; Nevo, Nathalie; Rocca, Celine J.; Gubler, Marie-Claire; Wilson, Cheung W.; Mak, Robert; Montier, Tristan; Antignac, Corinne; Cherqui, Stephanie Share Save
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Bolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; Van Hemelrijk, Christine; Schepers, Dorien; Vandeweyer, Geert; Hoischen, Alexander; Huyghe, Jeroen R.; Raes, Ann; Matthys, Erve; Sys, Emiel; Azou, Myriam; Gubler, Marie-Claire; Praet, Marleen; Van Camp, Guy; McFadden, Kelsey; Pediaditakis, Igor; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; Kidd, Kendrah; Bleyer, Anthony J.; Spong, Richard S.; Vande Walle, Johan; Mortier, Geert; Brunner, Han; Van Laer, Lut; Kmoch, Stanislav; Katsanis, Nicholas; Loeys, Bart L. Share Save
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation Grampa, Valentina; Delous, Marion; Zaidan, Mohamad; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Remi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attie-Bitach, Tania; Jeanpierre, Cecile; Saunier, Sophie Share Save
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization Bizet, Albane A.; Becker-Heck, Anita; Ryan, Rebecca; Weber, Kristina; Filhol, Emilie; Krug, Pauline; Halbritter, Jan; Delous, Marion; Lasbennes, Marie-Christine; Linghu, Bolan; Oakeley, Edward J.; Zarhrate, Mohammed; Nitschke, Patrick; Garfa-Traore, Meriem; Serluca, Fabrizio; Yang, Fan; Bouwmeester, Tewis; Pinson, Lucile; Cassuto, Elisabeth; Dubot, Philippe; Elshakhs, Neveen A. Soliman; Sahel, Jose A.; Salomon, Remi; Drummond, Iain A.; Gubler, Marie-Claire; Antignac, Corinne; Chibout, Salandine; Szustakowski, Joseph D.; Hildebrandt, Friedhelm; Lorentzen, Esben; Sailer, Andreas W.; Benmerah, Alexandre; Saint-Mezard, Pierre; Saunier, Sophie Share Save
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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Colin, Estelle; Cong, Evelyne Huynh; Mollet, Geraldine; Guichet, Agnes; Gribouval, Olivier; Arrondel, Christelle; Boyer, Olivia; Daniel, Laurent; Gubler, Marie-Claire; Ekinci, Zelal; Tsimaratos, Michel; Chabrol, Brigitte; Boddaert, Nathalie; Verloes, Alain; Chevrollier, Arnaud; Gueguen, Naig; Desquiret-Dumas, Valerie; Ferre, Marc; Procaccio, Vincent; Richard, Laurence; Funalot, Benoit; Moncla, Anne; Bonneau, Dominique; Antignac, Corinne Share Save
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