Rezultaty - Mollet, Geraldine

Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome od Serrano-Perez, Maria-Carmen, Tilley, Frances C., Nevo, Fabien, Arrondel, Christelle, Sbissa, Selim, Martin, Gaëlle, Tory, Kalman, Antignac, Corinne, Mollet, Géraldine

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Podocyte Purinergic P2X(4) Channels Are Mechanotransducers That Mediate Cytoskeletal Disorganization od Forst, Anna-Lena, Olteanu, Vlad Sorin, Mollet, Géraldine, Wlodkowski, Tanja, Schaefer, Franz, Dietrich, Alexander, Reiser, Jochen, Gudermann, Thomas, Mederos y Schnitzler, Michael, Storch, Ursula

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An inducible mouse model of podocin-mutation-related nephrotic syndrome od Tabatabaeifar, Mansoureh, Wlodkowski, Tanja, Simic, Ivana, Denc, Helga, Mollet, Geraldine, Weber, Stefanie, Moyers, John Julius, Brühl, Barbara, Randles, Michael Joseph, Lennon, Rachel, Antignac, Corinne, Schaefer, Franz

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Cathepsin B increases ENaC activity leading to hypertension early in nephrotic syndrome od Larionov, Alexey, Dahlke, Eileen, Kunke, Madlen, Zanon Rodriguez, Luis, Schiessl, Ina M., Magnin, Jean‐Luc, Kern, Ursula, Alli, Abdel A., Mollet, Geraldine, Schilling, Oliver, Castrop, Hayo, Theilig, Franziska

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Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome od Mollet, Géraldine, Ratelade, Julien, Boyer, Olivia, Muda, Andrea Onetti, Morisset, Ludivine, Lavin, Tiphaine Aguirre, Kitzis, David, Dallman, Margaret J., Bugeon, Laurence, Hubner, Norbert, Gubler, Marie-Claire, Antignac, Corinne, Esquivel, Ernie L.

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TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways od Dorval, Guillaume, Kuzmuk, Valeryia, Gribouval, Olivier, Welsh, Gavin I., Bierzynska, Agnieszka, Schmitt, Alain, Miserey-Lenkei, Stéphanie, Koziell, Ania, Haq, Shuman, Benmerah, Alexandre, Mollet, Géraldine, Boyer, Olivia, Saleem, Moin A., Antignac, Corinne

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Maternal Environment Interacts with Modifier Genes to Influence Progression of Nephrotic Syndrome od Ratelade, Julien, Lavin, Tiphaine Aguirre, Muda, Andrea Onetti, Morisset, Ludivine, Mollet, Géraldine, Boyer, Olivia, Chen, Deborah S., Henger, Anna, Kretzler, Matthias, Hubner, Norbert, Théry, Clotilde, Gubler, Marie-Claire, Montagutelli, Xavier, Antignac, Corinne, Esquivel, Ernie L.

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Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis od Boyer, Olivia, Benoit, Geneviève, Gribouval, Olivier, Nevo, Fabien, Tête, Marie-Josèphe, Dantal, Jacques, Gilbert-Dussardier, Brigitte, Touchard, Guy, Karras, Alexandre, Presne, Claire, Grunfeld, Jean-Pierre, Legendre, Christophe, Joly, Dominique, Rieu, Philippe, Mohsin, Nabil, Hannedouche, Thierry, Moal, Valérie, Gubler, Marie-Claire, Broutin, Isabelle, Mollet, Géraldine, Antignac, Corinne

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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome od Colin, Estelle, Huynh Cong, Evelyne, Mollet, Géraldine, Guichet, Agnès, 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, Valérie, Ferré, Marc, Procaccio, Vincent, Richard, Laurence, Funalot, Benoit, Moncla, Anne, Bonneau, Dominique, Antignac, Corinne

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A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS od Cong, Evelyne Huynh, Bizet, Albane A., Boyer, Olivia, Woerner, Stéphanie, Gribouval, Olivier, Filhol, Emilie, Arrondel, Christelle, Thomas, Sophie, Silbermann, Flora, Canaud, Guillaume, Hachicha, Jamil, Ben Dhia, Nasr, Peraldi, Marie-Noëlle, Harzallah, Kais, Iftene, Daouia, Daniel, Laurent, Willems, Marjolaine, Noel, Laure-Hélène, Bole-Feysot, Christine, Nitschké, Patrick, Gubler, Marie-Claire, Mollet, Géraldine, Saunier, Sophie, Antignac, Corinne

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies od Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies od Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, 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

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Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome od Arrondel, Christelle, Missoury, Sophia, Snoek, Rozemarijn, Patat, Julie, Menara, Giulia, Collinet, Bruno, Liger, Dominique, Durand, Dominique, Gribouval, Olivier, Boyer, Olivia, Buscara, Laurine, Martin, Gaëlle, Machuca, Eduardo, Nevo, Fabien, Lescop, Ewen, Braun, Daniela A., Boschat, Anne-Claire, Sanquer, Sylvia, Guerrera, Ida Chiara, Revy, Patrick, Parisot, Mélanie, Masson, Cécile, Boddaert, Nathalie, Charbit, Marina, Decramer, Stéphane, Novo, Robert, Macher, Marie-Alice, Ranchin, Bruno, Bacchetta, Justine, Laurent, Audrey, Collardeau-Frachon, Sophie, van Eerde, Albertien M., Hildebrandt, Friedhelm, Magen, Daniella, Antignac, Corinne, van Tilbeurgh, Herman, Mollet, Géraldine

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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis od Balogh, Eszter, Chandler, Jennifer C., Varga, Máté, Tahoun, Mona, Menyhárd, Dóra K., Schay, Gusztáv, Goncalves, Tomas, Hamar, Renáta, Légrádi, Regina, Szekeres, Ákos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szőcs, Anna, Perczel, Kristóf, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D’Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Jávorszky, Eszter, Rudas, Gábor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Götze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, François, Mollet, Géraldine, Motameny, Susanne, Thiele, Holger, Dorval, Guillaume, Nürnberg, Peter, Perczel, András, Szabó, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M., Tory, Kálmán

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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly od Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

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