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2. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, and Saunier, Sophie

Published
2023
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3. A wave of deep intronic mutations in X-linked Alport syndrome

Author

Boisson, Marie, Arrondel, Christelle, Cagnard, Nicolas, Morinière, Vincent, Arkoub, Zaïna Aït, Saei, Hassan, Heidet, Laurence, Kachmar, Jessica, Hummel, Aurélie, Knebelmann, Bertrand, Bonnet-Dupeyron, Marie-Noëlle, Isidor, Bertrand, Izzedine, Hassane, Legrand, Eric, Couarch, Philippe, Gribouval, Olivier, Bole-Feysot, Christine, Parisot, Mélanie, Nitschké, Patrick, Antignac, Corinne, and Dorval, Guillaume

Published
2023
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4. Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.

Author

Lobry, Tatiana, Miller, Roy, Nevo, Nathalie, Rocca, Celine, Zhang, Jinzhong, Catz, Sergio, Moore, Fiona, Thomas, Lucie, Pouly, Daniel, Bailleux, Anne, Guerrera, Ida, Gubler, Marie-Claire, Cheung, Wai, Mak, Robert, Montier, Tristan, Antignac, Corinne, and Cherqui, Stephanie

Subjects
chronic kidney disease, cystinosis, galectin-3, inflammation, monocyte chemoattractant protein–1, Amino Acid Transport Systems, Neutral, Animals, Chemokine CCL2, Cystine, Cystinosis, Disease Models, Animal, Disease Progression, Fanconi Syndrome, Female, Galectin 3, Humans, Inflammation, Kidney Tubules, Proximal, Lysosomes, Macrophages, Male, Mice, Mice, Knockout, Monocytes, Proteolysis
Abstract

Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β-galactosidase binding protein family, during inflammation. Cystinosis is a lysosomal storage disorder and, despite ubiquitous expression of cystinosin, the kidney is the primary organ impacted by the disease. Cystinosin was found to enhance lysosomal localization and degradation of galectin-3. In Ctns-/- mice, a mouse model of cystinosis, galectin-3 is overexpressed in the kidney. The absence of galectin-3 in cystinotic mice ameliorates pathologic renal function and structure and decreases macrophage/monocyte infiltration in the kidney of the Ctns-/-Gal3-/- mice compared to Ctns-/- mice. These data strongly suggest that galectin-3 mediates inflammation involved in kidney disease progression in cystinosis. Furthermore, galectin-3 was found to interact with the pro-inflammatory cytokine Monocyte Chemoattractant Protein-1, which stimulates the recruitment of monocytes/macrophages, and proved to be significantly increased in the serum of Ctns-/- mice and also patients with cystinosis. Thus, our findings highlight a new role for cystinosin and galectin-3 interaction in inflammation and provide an additional mechanistic explanation for the kidney disease of cystinosis. This may lead to the identification of new drug targets to delay cystinosis progression.

Published
2019

5. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Köttgen, 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-Ziętkiewicz, 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, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.

Published
2022
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6. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

Author

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, and Levtchenko, Elena

Published
2021
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8. A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome

Author

Kuzmuk, Valeryia, primary, Pranke, Iwona, additional, Rollason, Ruth, additional, Butler, Matthew, additional, Ding, Wen Y., additional, Beesley, Matthew, additional, Waters, Aoife M., additional, Coward, Richard J., additional, Sessions, Richard, additional, Tuffin, Jack, additional, Foster, Rebecca R., additional, Mollet, Géraldine, additional, Antignac, Corinne, additional, Edelman, Aleksander, additional, Welsh, Gavin I., additional, and Saleem, Moin A., additional

Published
2023
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11. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Angelis, Aris, Antignac, Corinne, Bae, Kyongtae, Bergmann, Carsten, Bleyer, Anthony J., Bos, Marjolein, Budde, Klemens, Bull, Katherine, Chauveau, Dominique, Cnaan, Avital, Cornel, Martina, Cosyns, Etienne, de la Fosse, Jane, Ding, Jie, Gear, Susie, Goodship, Timothy H.J., Goodyer, Paul, Gross, Oliver, Harr, Nicole, Harris, Peter C., Harris, Tess, Höfele, Julia, Hogan, Marie C., Hoorn, Ewout, Horie, Shigeo, Kashtan, Clifford E., Kerecuk, Larissa, Kleta, Robert, Konrad, Martin, Langman, Craig B., Mariz, Segundo, McKerracher, Gayle, Nieuwenhoven, Annet, Odland, Dwight, Olinger, Eric, Ortiz, Alberto, Pei, York, Pirson, Yves, Rayner, Brian L., Remuzzi, Giuseppe, Renault, Daniel, Salomon, Rémi, Servais, Aude, Smith, Richard J., Soliman, Neveen A., Stengel, Bénédicte, Storm, Marjolein, Torra, Roser, van't Hoff, William, Vargas-Poussou, Rosa, Vroom, Elizabeth, Wanner, Christoph, Yap, Hui-Kim, Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Franz, Torres, Vicente E., Cheung, Michael, Wheeler, David C., and Winkelmayer, Wolfgang C.

Published
2017
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12. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Author

Petzold, Friederike, primary, Billot, Katy, additional, Chen, Xiaoyi, additional, Henry, Charline, additional, Filhol, Emilie, additional, Martin, Yoann, additional, Avramescu, Marina, additional, Douillet, Maxime, additional, Morinière, Vincent, additional, Krug, Pauline, additional, Jeanpierre, Cécile, additional, Tory, Kalman, additional, Boyer, Olivia, additional, Burgun, Anita, additional, Servais, Aude, additional, Salomon, Remi, additional, Benmerah, Alexandre, additional, Heidet, Laurence, additional, Garcelon, Nicolas, additional, Antignac, Corinne, additional, Zaidan, Mohamad, additional, Saunier, Sophie, additional, Attié-Bitach, Tania, additional, Comier-Daire, Valerie, additional, Rozet, Jean-Michel, additional, Frishberg, Yaacov, additional, Llanas, Brigitte, additional, Broyer, Michel, additional, Mohsin, Nabil, additional, Macher, Marie-Alice, additional, Philip, Nicole, additional, Baudouin, Véronique, additional, Brackman, Damian, additional, Loirat, Chantal, additional, Charbit, Marina, additional, Dehennault, Maud, additional, Guyot, Claude, additional, Bataille, Pierre, additional, Elting, Mariet, additional, Deschenes, Georges, additional, Gropman, Andrea, additional, Guest, Geneviève, additional, Gagnadoux, Marie-France, additional, Nicoud, Philippe, additional, Cochat, Pierre, additional, Ranchin, Bruno, additional, Bensman, Albert, additional, Guerrot, Anne-Marie, additional, Knebelmann, Bertrand, additional, Bilge, Ilmay, additional, Bruno, Danièle, additional, Burtey, Stéphane, additional, Rouvière, Caroline Rousset, additional, Caudwell, Valérie, additional, Morin, Denis, additional, Dollfus, Hélène, additional, Maisin, Anne, additional, Hamel, Christian, additional, Bieth, Eric, additional, Gie, Sophie, additional, Goodship, Judith, additional, Roussey, Gwenaelle, additional, La Selve, Hermine, additional, Nivet, Hubert, additional, Bessenay, Lucie, additional, Caillez, Mathilde, additional, Palcoux, Jean Bernard, additional, Benoît, Stéphane, additional, Dubot, Philippe, additional, Fila, Marc, additional, Giuliano, Fabienne, additional, Iftene, Daouya, additional, Kessler, Michele, additional, Kwon, Theresa, additional, Lahoche, Anine, additional, Laurent, Audrey, additional, Leclerc, Anne-Laure, additional, Milford, David, additional, Neuhaus, Thomas, additional, Odent, Sylvie, additional, Eckart, Philippe, additional, Chauveau, Dominique, additional, Niaudet, Patrick, additional, Repetto, Horacio, additional, Taque, Sophie, additional, Bruel, Alexandra, additional, Noel-Botte, Alexandra, additional, Launay, Emma Allain, additional, Allard, Lisa, additional, Anlicheau, Dany, additional, Adra, Anne-Laure, additional, Garnier, Arnaud, additional, Nagra, Arvind, additional, Baatard, Remy, additional, Bacchetta, Justine, additional, Sadikoglu, Banu, additional, Barnerias, Christine, additional, Barthelemy, Anne, additional, Basel, Lina, additional, Bassilios, Nader, additional, Ben Maiz, Hedi, additional, Ben Moussa, Fatma, additional, Benmati, Faïza, additional, Berthaud, Romain, additional, Bertholet, Aurélia, additional, Blanchier, Dominique, additional, Boffa, Jean Jacques, additional, Bouchireb, Karim, additional, Bouhabel, Ihab, additional, Boukerroucha, Zakaria, additional, Bourdat-Michel, Guylhène, additional, Boute, Odile, additional, Brochard, Karine, additional, Caumes, Roseline, additional, Elalaoui, Siham Chafai, additional, Chamontin, Bernard, additional, Chastang, Marie Caroline, additional, Pietrement, Christine, additional, Richer, Christine, additional, Legendre, Christophe, additional, Dahan, Karin, additional, Dalla-Vale, Fabienne, additional, Thibaudin, Damien, additional, Dauvergne, Maxime, additional, Davourie, Salandre, additional, Debeukelaer, Martin, additional, Delbet, Jean Daniel, additional, Deltas, Constantinos, additional, Graber, Denis, additional, Devillars, Nadège, additional, Diouf, Boucar, additional, Fenzy, Martine Doco, additional, André, Jean-Luc, additional, Joly, Dominique, additional, Fryer, Alan, additional, Albano, Laetitia, additional, Cassuto, Elisabeth, additional, Pincon, Aline, additional, Medeira, Ana, additional, Chaussenot, Annabelle, additional, Mensire-Marinier, Anne, additional, Bouissou, Francois, additional, Decramer, Stephane, additional, Bottani, Armand, additional, Hummel, Aurélie, additional, Karras, Alexandre, additional, Katz, Avi, additional, Azema, Christine, additional, Janbon, Bénédicte, additional, Roussel, Bernard, additional, Bonniol, Claude, additional, Mariat, Christiophe, additional, Champion, Gérard, additional, Chantreuil, Deborah, additional, Chassaing, Nicolas, additional, Mousson, Christiane, additional, Baudeau, Christine, additional, Cuntz, Delphine Hafdar, additional, Mignot, Cyril, additional, Dehoux, Laurene, additional, Lacombe, Didier, additional, Hannedouche, Thierry, additional, Mérieau, Elodie, additional, Charlin, Emmanuelle, additional, Gauthier, Eric, additional, Plasse, Florent, additional, Faguer, Stanislas, additional, Lebas, Fanny, additional, Demurger, Florence, additional, Emma, Francesco, additional, Cartault, François, additional, Dumont, Geneviève, additional, Godefroid, Nathalie, additional, Guigonis, Vincent, additional, Hillaire, Sophie, additional, Groothoff, Jaap, additional, Dudley, Jan, additional, Jourde-Chiche, Noémie, additional, El Karoui, Khalil, additional, Krid, Saoussen, additional, Coudert, Krier, additional, Bencheick, Larbi, additional, Yver, Laurent, additional, Lavocat, Marie-Pierre, additional, De Sagazan, Le Monies, additional, Leroy, Valerie, additional, Thibaudin, Lise, additional, Ingulli, Liz, additional, Gwanmesia, Lorraine, additional, Burglen, Lydie, additional, Saïd-Menthon, Marie-Hélène, additional, Carrera, Marta, additional, Nizon, Mathilde, additional, Melander, Catherine, additional, Foulard, Michel, additional, Blayo, Monique, additional, Prinseau, Jacques, additional, Jay, Nadine, additional, Brun, Nathalie, additional, Camille, Nicolas, additional, Nobili, François, additional, Devuyst, Olivier, additional, Ben Brahim, Ouafa, additional, Parvex, Paloma, additional, Sabourin, Laurence Perrin, additional, Blanc, Philippe, additional, Vanhille, Philippe, additional, Galichon, Pierre, additional, Pierrepont, Sophie, additional, Planquois, Vincent, additional, Poussard, Gwenaelle, additional, Noble, Claire Pouteil, additional, Allal, Radia, additional, Bernard, Raphaelle, additional, Mounet, Raynaud, additional, Cahen, Rémi, additional, Touraine, Renaud, additional, Rigothier, Claire, additional, Ryckewaert, Amélie, additional, Sacquepee, Mathieu, additional, El Chehadeh, Salima, additional, Samaille, Charlotte, additional, Haq, Shuman, additional, Simckes, Ari, additional, Lanoiselée, Stéphanie, additional, Tellier, Stephanie, additional, Subra, Jean-François, additional, Cloarec, Sylvie, additional, Tenenbam, Julie, additional, Lamy, Thomas, additional, Drouin Garraud, Valérie, additional, Valette, Huguette, additional, Meyssonnier, Vanina, additional, Vargas-Poussou, Rosa, additional, Snajer, Yves, additional, Durault, Sandrine, additional, Plaisier, Emmanuelle, additional, Berard, Etienne, additional, Fakhouri, Fadi, additional, Louillet, Ferielle, additional, Finielz, Paul, additional, Fischbach, Michel, additional, Foliguet, Bernard, additional, Francois-Pradier, Hélène, additional, Garaix, Florentine, additional, Gerard, Marion, additional, Rizzoni, Gianfranco, additional, Gilbert, Brigitte, additional, Glotz, Denis, additional, Dubrasquet, Astrid Godron, additional, Grünfeld, Jean-Pierre, additional, Bollee, Guillaume, additional, Hall, Michelle, additional, Hansson, Sverker, additional, Haye, Damien, additional, Taffin, Hélène, additional, Hildebrandt, Friedhelm, additional, Hourmand, Maryvonne, additional, Kayserili, Hümya, additional, Tack, Ivan, additional, Jacquemont, Marie Line, additional, Fabre-Teste, Jennifer, additional, Kashtan, Cliff, additional, Van Hoeck, Kkoen, additional, Klein, Alexandre, additional, Knefati, Yannick, additional, Knoers, Nine, additional, Konrad, Martin, additional, Lachaux, Alain, additional, Landru, Isabelle, additional, Landthaler, Gilbert, additional, Lang, Philippe, additional, Le Pogamp, Patrick, additional, Legris, Tristan, additional, Didailler, Catherine, additional, Lobbedez, Thierry, additional, de Parscau, Loïc, additional, Pinson, Lucile, additional, Maheut, Hervé, additional, Duval-Arnould, Marc, additional, Rio, Marlène, additional, Gubler, Marie-Claire, additional, Merville, Pierre, additional, Mestrallet, Guillaume, additional, Meunier, Maite, additional, Moreau, Karine, additional, Harambat, Jérôme, additional, Morgan, Graeme, additional, Mourad, Georges, additional, Stuber, Niksic, additional, Boespflug-Tanguy, Odile, additional, Dunand, Olivier, additional, Niel, Olivier, additional, Ouali, Nacera, additional, Malvezzi, Paolo, additional, Abou Jaoude, Pauline, additional, Pelletier, Solenne, additional, Peltier, Julie, additional, Petersen, M.B., additional, Michel, Philippe, additional, Rémy, Philippe, additional, Philit, Jean-Baptiste, additional, Pichault, Valérie, additional, Billette de Villemeur, Thierry, additional, Boudailliez, Bernard, additional, Leheup, Bruno, additional, Dossier, Claire, additional, Djeddi, Djamal-Dine, additional, Berland, Yves, additional, Hurault de Ligny, Bruno, additional, Rigden, Susan, additional, Robino, Christophe, additional, Rossi, Annick, additional, Sarnacki, Sabine, additional, Saidani, Messaoud, additional, Sartorius, Albane Brodin, additional, Schäfer, Elise, additional, Laszlo, Sztriha, additional, Thouret, Marie-Christine, additional, Thuillier-Lecouf, Angélique, additional, Trachtman, Howard, additional, Trivin, Claire, additional, Tsimaratos, Michel, additional, Van Damme-Lombaerts, Rita, additional, Willems, Marjolaine, additional, Youssef, Michel, additional, Zaloszyc, Ariane, additional, Zawodnik, Alexis, additional, and Ziliotis, Marie-Julia, additional

Published
2023
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13. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

Author

Ekici, Arif B., Hackenbeck, Thomas, Morinière, Vincent, Pannes, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B., Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, André, Eckardt, Kai-Uwe, and Wiesener, Michael S.

Published
2014
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17. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

Author

Tory, Kálmán, Rousset-Rouvière, Caroline, Gubler, Marie-Claire, Morinière, Vincent, Pawtowski, Audrey, Becker, Céline, Guyot, Claude, Gié, Sophie, Frishberg, Yaacov, Nivet, Hubert, Deschênes, Georges, Cochat, Pierre, Gagnadoux, Marie-France, Saunier, Sophie, Antignac, Corinne, and Salomon, Rémi

Published
2009
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26. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Aymé, Ségolène, primary, Bockenhauer, Detlef, additional, Day, Simon, additional, Devuyst, Olivier, additional, Guay-Woodford, Lisa M., additional, Ingelfinger, Julie R., additional, Klein, Jon B., additional, Knoers, Nine V.A.M., additional, Perrone, Ronald D., additional, Roberts, Julia, additional, Schaefer, Franz, additional, Torres, Vicente E., additional, Cheung, Michael, additional, Wheeler, David C., additional, Winkelmayer, Wolfgang C., additional, Angelis, Aris, additional, Antignac, Corinne, additional, Bae, Kyongtae, additional, Bergmann, Carsten, additional, Bleyer, Anthony J., additional, Bos, Marjolein, additional, Budde, Klemens, additional, Bull, Katherine, additional, Chauveau, Dominique, additional, Cnaan, Avital, additional, Cornel, Martina, additional, Cosyns, Etienne, additional, de la Fosse, Jane, additional, Ding, Jie, additional, Gear, Susie, additional, Goodship, Timothy H.J., additional, Goodyer, Paul, additional, Gross, Oliver, additional, Harr, Nicole, additional, Harris, Peter C., additional, Harris, Tess, additional, Höfele, Julia, additional, Hogan, Marie C., additional, Hoorn, Ewout, additional, Horie, Shigeo, additional, Kashtan, Clifford E., additional, Kerecuk, Larissa, additional, Kleta, Robert, additional, Konrad, Martin, additional, Langman, Craig B., additional, Mariz, Segundo, additional, McKerracher, Gayle, additional, Nieuwenhoven, Annet, additional, Odland, Dwight, additional, Olinger, Eric, additional, Ortiz, Alberto, additional, Pei, York, additional, Pirson, Yves, additional, Rayner, Brian L., additional, Remuzzi, Giuseppe, additional, Renault, Daniel, additional, Salomon, Rémi, additional, Servais, Aude, additional, Smith, Richard J., additional, Soliman, Neveen A., additional, Stengel, Bénédicte, additional, Storm, Marjolein, additional, Torra, Roser, additional, van't Hoff, William, additional, Vargas-Poussou, Rosa, additional, Vroom, Elizabeth, additional, Wanner, Christoph, additional, and Yap, Hui-Kim, additional

Published
2017
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27. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

Author

Eckardt, Kai-Uwe, primary, Alper, Seth L., additional, Antignac, Corinne, additional, Bleyer, Anthony J., additional, Chauveau, Dominique, additional, Dahan, Karin, additional, Deltas, Constantinos, additional, Hosking, Andrew, additional, Kmoch, Stanislav, additional, Rampoldi, Luca, additional, Wiesener, Michael, additional, Wolf, Matthias T., additional, and Devuyst, Olivier, additional

Published
2015
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28. Smooth muscle tumors associated with X-linked Alport syndrome: Carrier detection in females

Author

Dahan, Karin, primary, Heidet, Laurence, additional, Zhou, Jing, additional, Mettler, G., additional, Leppig, Kathleen A., additional, Proesmans, Willem, additional, David, Albert, additional, Roussel, Bernard, additional, Mongeau, J.G., additional, Gould, J.M.D., additional, Grünfeld, Jean-Pierre, additional, Gubler, Marie-Claire, additional, and Antignac, Corinne, additional

Published
1995
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32. Bi-allelic pathogenic variations in DNAJB11cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia

Author

Jordan, Penelope, Arrondel, Christelle, Bessières, Bettina, Tessier, Aude, Attié-Bitach, Tania, Guterman, Sarah, Morinière, Vincent, Antignac, Corinne, Saunier, Sophie, Gubler, Marie-Claire, and Heidet, Laurence

Abstract

DNAJB11(DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments. In addition, tubular cells from the affected kidneys had elongated primary cilia, a finding previously reported in ciliopathies. Thus, our data show that the recessive disease associated with DNAJB11variations is a ciliopathy rather than a disease of the autosomal dominant tubulointerstitial kidney disease spectrum, and prompt screening of DNAJB11in fetal hyperechogenic/cystic kidneys.

Published
2021
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34. In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

Author

Shao-Yu Zhang, Marlier, Arnaud, Gribouval, Olivier, Gilbert, Thierry, Heidet, Laurence, Antignac, Corinne, and Gubler, Marie Claire

Subjects
*NEPHROTIC syndrome, *KIDNEY diseases, *GENETIC mutation, *STEROID drugs, *KIDNEYS, *NEPHROLOGY, *BIOPSY
Abstract

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation. Background. Mutations in NPHS2, encoding podocin, are a prevalent cause of autosomal-recessive steroid-resistant nephrotic syndrome (SRNS). Podocin is a protein associated with the slit diaphragm that interacts with nephrin and CD2-associated protein (CD2AP) within lipid rafts. Methods. Using renal biopsies of six patients, we analyzed the in vivo consequences of different types of NPHS2 mutations on ( 1) the podocyte expression and distribution of podocin using in situ hybridization and immunohistology and ( 2) the distribution of related podocyte proteins and glomerular extracellular matrix components. Results. In two patients with homozygous 855_856delAA or 419delG mutation, absence of podocyte labeling with the antibodies against the C-terminal domain contrasted with the normal expression of the N-terminal domain of the protein along the glomerular basement membrane (GBM). In patients carrying compound heterozygous mutations or variants (R168S/467_468insT, R138Q/V180M, and R291W/R229Q), or single heterozygous 976_977insA, podocin transcription appeared unchanged but the distribution of the protein was modified. Podocin was restricted to the podocyte body in the patient carrying the R168S/467_468insT mutation whereas strong immunolabeling of the podocyte body was associated with discrete labeling along the GBM in the three others. In all cases, podocin defect was associated with changes in the distribution of nephrin, CD2AP, and α-actinin: the proteins were mainly detected in the podocyte body, with mild expression along the GBM. There were no detectable changes in the distribution of other podocyte proteins or glomerular extracellular matrix components. Conclusion. NPHS2 mutations result in profound alteration of podocin expression and/or distribution. Secondary changes in the distribution of nephrin, CD2AP, and α-actinin are additional evidences for the scaffolding role of podocin in the organization of the slit diaphragm. [ABSTRACT FROM AUTHOR]

Published
2004
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