CCDC158: A novel regulator in renal proximal tubular endocytosis unveiled through exome sequencing and interactome analysis von Bondue, Tjessa, Cervellini, Francesca, Smeets, Bart, Strelkov, Sergei V., Horuz‐Engels, Flore, Veys, Koenraad, Vargas‐Poussou, Rosa, Matteis, Maria Antonietta De, Staiano, Leopoldo, Heuvel, Lambertus, Levtchenko, Elena

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New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1 von Shaukat, Irfan, Bakhos‐Douaihy, Dalal, Zhu, Yingying, Seaayfan, Elie, Demaretz, Sylvie, Frachon, Nadia, Weber, Stefanie, Kömhoff, Martin, Vargas‐Poussou, Rosa, Laghmani, Kamel

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Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1 von Sakhi, Imène, Bignon, Yohan, Frachon, Nadia, Hureaux, Marguerite, Arévalo, Bárbara, González, Wendy, Vargas‐Poussou, Rosa, Lourdel, Stéphane

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Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia von Frerot, Alice, Baudouin, Véronique, Rideau‐Batista, Aline, Couderc, Anne, Garel, Catherine, Soltane, Samia, Colella, Marina, Vargas‐Poussou, Rosa, Hureaux, Marguerite

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Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients von Mouly, Céline, Vargas‐Poussou, Rosa, Lienhardt, Anne, Silve, Caroline, Hureaux, Marguerite, Magdelaine, Corinne, Buffet, Alexandre, Grunenwald, Solange, Kuhn, Jean-Marc, Brue, Thierry, Reznik, Yves, Tabarin, Antoine, Martin‐Coignard, Dominique, Haymann, Jean‐Philippe, Tack, Ivan, Bennet, Antoine, Caron, Philippe, Linglart, Agnès, Vezzosi, Delphine

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A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification von Bignon, Yohan, Alekov, Alexi, Frachon, Nadia, Lahuna, Olivier, Jean‐Baptiste Doh‐Egueli, Carine, Deschênes, Georges, Vargas‐Poussou, Rosa, Lourdel, Stéphane

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A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule von Hennings, J. Christopher, Picard, Nicolas, Huebner, Antje K., Stauber, Tobias, Maier, Hannes, Brown, Dennis, Jentsch, Thomas J., Vargas‐Poussou, Rosa, Eladari, Dominique, Hübner, Christian A.

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Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubul... von Konrad, Martin, Nijenhuis, Tom, Ariceta, Gema, Bertholet-Thomas, Aurelia, Calo, Lorenzo A., Capasso, Giovambattista, Emma, Francesco, Schlingmann, Karl P., Singh, Mandeep, Trepiccione, Francesco, Walsh, Stephen B., Whitton, Kirsty, Vargas-Poussou, Rosa, Bockenhauer, Detlef

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Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference von Blanchard, Anne, Bockenhauer, Detlef, Bolignano, Davide, Calò, Lorenzo A., Cosyns, Etienne, Devuyst, Olivier, Ellison, David H., Karet Frankl, Fiona E., Knoers, Nine V.A.M., Konrad, Martin, Lin, Shih-Hua, Vargas-Poussou, Rosa

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Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families von Escobar, Laura I., Simian, Christopher, Treard, Cyrielle, Hayek, Donia, Salvador, Carolina, Guerra, Norma, Matos, Mario, Medeiros, Mara, Enciso, Sandra, Camargo, María Dolores, Vargas‐Poussou, Rosa

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Distal renal tubular acidosis: ERKNet/ESPN clinical practice points von Trepiccione, Francesco, Walsh, Steven B, Ariceta, Gema, Boyer, Olivia, Emma, Francesco, Camilla, Roberta, Ferraro, Pietro Manuel, Haffner, Dieter, Konrad, Martin, Levtchenko, Elena, Lopez-Garcia, Sergio Camilo, Santos, Fernando, Stabouli, Stella, Szczepanska, Maria, Tasic, Velibor, Topaloglu, Rezan, Vargas-Poussou, Rosa, Wlodkowski, Tanja, Bockenhauer, Detlef

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Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis von Louis-Dit-Picard, Hélène, Kouranti, Ilektra, Rafael, Chloé, Loisel-Ferreira, Irmine, Chavez-Canales, Maria, Abdel-Khalek, Waed, Argaiz, Eduardo R, Baron, Stéphanie, Vacle, Sarah, Migeon, Tiffany, Coleman, Richard, Do Cruzeiro, Marcio, Hureaux, Marguerite, Thurairajasingam, Nirubiah, Decramer, Stéphane, Girerd, Xavier, O'Shaugnessy, Kevin, Mulatero, Paolo, Roussey, Gwenaëlle, Tack, Ivan, Unwin, Robert, Vargas-Poussou, Rosa, Staub, Olivier, Grimm, Richard, Welling, Paul A, Gamba, Gerardo, Clauser, Eric, Hadchouel, Juliette, Jeunemaitre, Xavier

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Effect of Hydrochlorothiazide on Urinary Calcium Excretion in Dent Disease: An Uncontrolled Trial von Blanchard, Anne, MD, PhD, Vargas-Poussou, Rosa, MD, PhD, Peyrard, Severine, MSc, Mogenet, Agnes, MD, Baudouin, Veronique, MD, PhD, Boudailliez, Bernard, MD, MSc, Charbit, Marina, MD, Deschesnes, George, MD, PhD, Ezzhair, Nadia, MD, Loirat, Chantal, MD, PhD, Macher, Marie-Alice, MD, PhD, Niaudet, Patrick, MD, PhD, Azizi, Michel, MD, PhD

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Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome von Blanchard, Anne, Vargas-Poussou, Rosa, Vallet, Marion, Caumont-Prim, Aurore, Allard, Julien, Desport, Estelle, Dubourg, Laurence, Monge, Matthieu, Bergerot, Damien, Baron, Stéphanie, Essig, Marie, Bridoux, Frank, Tack, Ivan, Azizi, Michel

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Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants von Brazier, François, Courbebaisse, Marie, David, Amandine, Bergerat, David, Leroy, Christine, Lindner, Marta, Maruani, Gérard, Saint Jacques, Camille, Letavernier, Emmanuel, Hureaux, Marguerite, Vargas-Poussou, Rosa, Prié, Dominique

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Observations of a large Dent disease cohort von Blanchard, Anne, Curis, Emmanuel, Guyon-Roger, Tiphaine, Kahila, Diana, Treard, Cyrielle, Baudouin, Véronique, Bérard, Etienne, Champion, Gérard, Cochat, Pierre, Dubourg, Julie, de la Faille, Renaud, Devuyst, Olivier, Deschenes, Georges, Fischbach, Michel, Harambat, Jérôme, Houillier, Pascal, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Loirat, Chantal, Merieau, Elodie, Niaudet, Patrick, Nobili, François, Novo, Robert, Salomon, Rémi, Ulinski, Tim, Jeunemaître, Xavier, Vargas-Poussou, Rosa

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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome von Legrand, Anne, Treard, Cyrielle, Roncelin, Isabelle, Dreux, Sophie, Bertholet-Thomas, Aurélia, Broux, Françoise, Bruno, Daniele, Decramer, Stéphane, Deschenes, Georges, Djeddi, Djamal, Guigonis, Vincent, Jay, Nadine, Khalifeh, Tackwa, Llanas, Brigitte, Morin, Denis, Morin, Gilles, Nobili, François, Pietrement, Christine, Ryckewaert, Amélie, Salomon, Rémi, Vrillon, Isabelle, Blanchard, Anne, Vargas-Poussou, Rosa

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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1 von Mansour-Hendili, Lamisse, Blanchard, Anne, Le Pottier, Nelly, Roncelin, Isabelle, Lourdel, Stéphane, Treard, Cyrielle, González, Wendy, Vergara-Jaque, Ariela, Morin, Gilles, Colin, Estelle, Holder-Espinasse, Muriel, Bacchetta, Justine, Baudouin, Véronique, Benoit, Stéphane, Bérard, Etienne, Bourdat-Michel, Guylhène, Bouchireb, Karim, Burtey, Stéphane, Cailliez, Mathilde, Cardon, Gérard, Cartery, Claire, Champion, Gerard, Chauveau, Dominique, Cochat, Pierre, Dahan, Karin, De la Faille, Renaud, Debray, François-Guillaume, Dehoux, Laurenne, Deschenes, Georges, Desport, Estelle, Devuyst, Olivier, Dieguez, Stella, Emma, Francesco, Fischbach, Michel, Fouque, Denis, Fourcade, Jacques, François, Hélène, Gilbert-Dussardier, Brigitte, Hannedouche, Thierry, Houillier, Pascal, Izzedine, Hassan, Janner, Marco, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Leroy, Valérie, Loirat, Chantal, Macher, Marie-Alice, Martin-Coignard, Dominique, Morin, Denis, Niaudet, Patrick, Nivet, Hubert, Nobili, François, Novo, Robert, Faivre, Laurence, Rigothier, Claire, Roussey-Kesler, Gwenaëlle, Salomon, Remi, Schleich, Andreas, Sellier-Leclerc, Anne-Laure, Soulami, Kenza, Tiple, Aurélien, Ulinski, Tim, Vanhille, Philippe, Van Regemorter, Nicole, Jeunemaître, Xavier, Vargas-Poussou, Rosa

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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants von Bosman, Willem, Franken, Gijs A. C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H. F., Hoenderop, Joost G. J.

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Claudin‐16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation von Bardet, Claire, Courson, Frédéric, Wu, Yong, Khaddam, Mayssam, Salmon, Benjamin, Ribes, Sandy, Thumfart, Julia, Yamaguti, Paulo M, Rochefort, Gael Y, Figueres, Marie‐Lucile, Breiderhoff, Tilman, Garcia‐Castaño, Alejandro, Vallée, Benoit, Le Denmat, Dominique, Baroukh, Brigitte, Guilbert, Thomas, Schmitt, Alain, Massé, Jean‐Marc, Bazin, Dominique, Lorenz, Georg, Morawietz, Maria, Hou, Jianghui, Carvalho‐Lobato, Patricia, Manzanares, Maria Cristina, Fricain, Jean‐Christophe, Talmud, Deborah, Demontis, Renato, Neves, Francisco, Zenaty, Delphine, Berdal, Ariane, Kiesow, Andreas, Petzold, Matthias, Menashi, Suzanne, Linglart, Agnes, Acevedo, Ana Carolina, Vargas‐Poussou, Rosa, Müller, Dominik, Houillier, Pascal, Chaussain, Catherine

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