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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. 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

4. Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Author

Dorval, Guillaume, Jeanpierre, Cécile, Morinière, Vincent, Tournant, Carole, Bessières, Bettina, Attié-Bittach, Tania, Amiel, Jeanne, Spaggari, Emmanuel, Ville, Yves, Merieau, Elodie, Gubler, Marie-Claire, Saunier, Sophie, and Heidet, Laurence

Subjects
Gene mutations -- Research, Promoters (Genetics) -- Research, Polycystic kidney disease -- Genetic aspects -- Risk factors, Pediatric research, Phenotype -- Research, Health
Abstract

Background Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation. While biallelic coding PMM2 mutations are involved in congenital disorder of glycosylation CDG1A, that particular variant in the promoter of the gene, either in the homozygous state or associated with a mutation in the coding exons of the gene, is thought to restrict the N-glycosylation defect to the kidney and the pancreas. Methods Targeted exome sequencing of a panel of genes involved in monogenic kidney diseases. Results We identified a PMM2 variant at position -167 associated with a pathogenic PMM2 variant in the coding exons in 3 families, comprising 6 cases affected with a cystic kidney disease. The spectrum of phenotypes was very broad, from extremely enlarged fetal cystic kidneys in the context of a COACH-like syndrome, to isolated cystic kidney disease with small kidneys, slowly progressing toward kidney failure in adulthood. Hypoglycemia was reported only in one case. Conclusion These data show that the PMM2 promotor variation, in trans of a PMM2 coding mutation, is associated with a wide spectrum of kidney phenotypes, and is not always associated with extra-renal symptoms. When present, extra-renal defects may include COACH-like syndrome. These data prompt screening of PMM2 in unresolved cases of fetal hyperechogenic/cystic kidneys as well as in cystic kidney disease in children and adults., Author(s): Guillaume Dorval [sup.1] [sup.2] , Cécile Jeanpierre [sup.2] , Vincent Morinière [sup.1] , Carole Tournant [sup.1] , Bettina Bessières [sup.3] , Tania Attié-Bittach [sup.3] [sup.4] , Jeanne Amiel [sup.4] [...]

Published
2021
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6. Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

Author

Fila, Marc, Morinière, Vincent, Eckart, Philippe, Terzic, Joelle, Gubler, Marie-Claire, Antignac, Corinne, and Heidet, Laurence

Subjects
Gene mutations -- Health aspects -- Genetic aspects, Renin-angiotensin system -- Genetic aspects -- Development and progression, Allelomorphism -- Health aspects -- Genetic aspects, Kidney diseases -- Development and progression -- Genetic aspects, Health
Abstract

Background Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of differentiated proximal tubules leading to fetal anuria and neonatal end-stage renal disease. Case-Diagnosis/Treatment We identified bi-allelic loss of function mutations in ACE, the gene encoding angiotensin-converting enzyme, in 3 unrelated cases displaying progressive chronic renal failure, whose DNAs had been sent for suspicion of juvenile hyperuricemic nephropathy, nephronophthisis, and cystic renal disease, respectively. In all cases, patients were affected with anemia whose severity was unexpected regarding the level of renal failure and with important polyuro-polydipsia. Conclusions Bi-allelic loss of function mutation of ACE can have atypical and sometimes late presentation with chronic renal failure, anemia (out of proportion with the level of renal failure), and polyuro-polydipsia. These data illustrate the usefulness of next generation sequencing and 'agnostic' approaches to elucidate cases with chronic kidney disease of unknown etiology and to broaden the spectrum of phenotypes of monogenic renal diseases. It also raises the question of genetic modifiers involved in the variation of the phenotypes associated with these mutations., Author(s): Marc Fila [sup.1] , Vincent Morinière [sup.2] , Philippe Eckart [sup.3] , Joelle Terzic [sup.4] , Marie-Claire Gubler [sup.5] , Corinne Antignac [sup.2] [sup.5] , Laurence Heidet [sup.6] Author [...]

Published
2020
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8. 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.

Author

Smerkous, David, primary, Mauer, Michael, additional, Tøndel, Camilla, additional, Svarstad, Einar, additional, Gubler, Marie-Claire, additional, Nelson, Robert G., additional, Oliveira, João-Paulo, additional, Sargolzaeiaval, Forough, additional, and Najafian, Behzad, additional

Published
2023
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10. 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. Inherited Glomerular Diseases

Author

Kashtan, Clifford E., Gubler, Marie-Claire, Avner, Ellis, editor, Harmon, William, editor, Niaudet, Patrick, editor, and Yoshikawa, Norishige, editor

Published
2009
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15. Cilia‐localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney

Author

Viau, Amandine, Bienaimé, Frank, Lukas, Kamile, Todkar, Abhijeet P, Knoll, Manuel, Yakulov, Toma A, Hofherr, Alexis, Kretz, Oliver, Helmstädter, Martin, Reichardt, Wilfried, Braeg, Simone, Aschman, Tom, Merkle, Annette, Pfeifer, Dietmar, Dumit, Verónica I, Gubler, Marie‐Claire, Nitschke, Roland, Huber, Tobias B, Terzi, Fabiola, Dengjel, Jörn, Grahammer, Florian, Köttgen, Michael, Busch, Hauke, Boerries, Melanie, Walz, Gerd, Triantafyllopoulou, Antigoni, and Kuehn, E Wolfgang

Published
2018
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16. Contributing Authors

Author

Cossey, L. Nicholas, primary, Boils, Christie L., additional, Gubler, Marie Claire, additional, Ambruzs, Josephine, additional, Messias, Nidia, additional, Collins, A. Bernard, additional, Vasilyev, Aleksandr, additional, and Gu, Xin, additional

Published
2016
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19. The renal inflammatory network of nephronophthisis

Author

Quatredeniers, Marceau, primary, Bienaimé, Frank, additional, Ferri, Giulia, additional, Isnard, Pierre, additional, Porée, Esther, additional, Billot, Katy, additional, Birgy, Eléonore, additional, Mazloum, Manal, additional, Ceccarelli, Salomé, additional, Silbermann, Flora, additional, Braeg, Simone, additional, Nguyen-Khoa, Thao, additional, Salomon, Rémi, additional, Gubler, Marie-Claire, additional, Kuehn, E Wolfgang, additional, Saunier, Sophie, additional, and Viau, Amandine, additional

Published
2022
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20. Fetal renin-angiotensin-system blockade syndrome: renal lesions

Author

Plazanet, Caroline, Arrondel, Christelle, Chavant, Francois, and Gubler, Marie-Claire

Subjects
ACE inhibitors -- Dosage and administration -- Complications and side effects, Kidney failure -- Risk factors -- Diagnosis -- Research, Health
Abstract

Background Fetuses exposed to angiotensin-converting enzyme inhibitors or angiotensin receptor antagonists during the second and/or third trimesters of gestation are at high risk of developing severe complications. They consist in fetal hypotension, and anuria/oligohydramnios leading to Potter sequence, frequently associated with hypocalvaria. Most fetuses die during the pre- or postnatal period, whereas others recover normal or subnormal renal function. However, the secondary occurrence of renal failure or hypertension has been reported in children after apparent complete recovery. Methods In this context, we analyzed renal lesions in 14 fetus/ neonates who died soon after exposure to renin-angiotensinsystem (RAS) blockers. Our objective was to determine the causes for the persistence or the secondary occurrence of renal complications reported in some of the survivors. Results As previously described, renal tubular dysgenesis is usually observed. Additional lesions, such as thickening of the muscular wall of arterioles and interlobular arteries, glomerular cysts, and interstitial fibrosis, develop early during fetal life. Conclusion We suggest that renal lesions that develop before birth may persist after withdrawal of the causative drugs and normalization of blood and renal perfusion pressure. Their persistence could explain the severe long-term outcome of some of these patients. Long-term study of children exposed to RAS blockers during fetal life is strongly recommended. Keywords Angiotensin-converting enzyme inhibitors. Angiotensin receptor antagonists. Pregnancy. Renal lesions, Introduction Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor antagonists (ARAs) are effective, widely prescribed, and well-tolerated treatments of chronic hypertension. Since the first observations of persistent anuria and severe hypotension [...]

Published
2014
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21. Renal tubular dysgenesis

Author

Gubler, Marie-Claire

Subjects
Gene mutations -- Research, Children -- Diseases, Kidney diseases -- Diagnosis -- Genetic aspects, Animal experimentation -- Usage, Health
Abstract

Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. In most cases, early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. RTD may be acquired during foetal development or inherited as an autosomal recessive disease. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin-angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1. Mutations result in either the absence of production or lack of efficacy of angiotensin II. Secondary RTD has been observed in various situations, particularly in the donor twin of severe twin-to-twin transfusion syndrome, in foetuses affected with congenital haemochromatosis or in foetuses exposed to RAS blockers. All cases result in renal hypoperfusion. These examples illustrate the importance of a functional RAS in the maintenance of blood pressure and renal blood flow for humans during foetal life. The diagnosis of RTD in an anuric foetus with normal renal sonography results is important for the management of the foetus or neonate. Depending on the genetic or secondary cause of the disease, such findings can lead to genetic counselling or the prevention of recurrence in subsequent pregnancies. Keywords Renal tubular dysgenesis * RAS genes * RAS Blockers * Haemochromatosis * Twin-to-twin transfusion syndrome, Introduction The term renal tubular dysgenesis (RTD) was coined by Allanson et al. to describe a peculiar renal lesion (the absence of differentiated proximal tubules) in two stillborn foetuses who [...]

Published
2014
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22. Urinary monocyte chemoattractant protein-1 and hepcidin and early diabetic nephropathy lesions in type 1 diabetes mellitus

Author

Fufaa, Gudeta D., Weil, E. Jennifer, Nelson, Robert G., Hanson, Robert L., Knowler, William C., Rovin, Brad H., Wu, Haifeng, Klein, Jon B., Mifflin, Theodore E., Feldman, Harold I., Vasan, Ramachandran S., Kimmel, Paul L., Kusek, John W., Mauer, Michael, Zinman, Bernard, Donnelly, Sandra, Canada, Toronto, Gardiner, Robert, Suissa, Samy, Drummond, Keith, Goodyer, Paul, Sinaiko, Alan, Strand, Trudy, Gubler, Marie Claire, and Klein, Ronald

Published
2015
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28. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Author

Zivna, Martina, Hulkova, Helena, Matignon, Marie, Hodanova, Katerina, Vylet'al, Petr, Kalbacova, Marie, Baresova, Veronika, Sikora, Jakub, Blazkova, Hana, Zivny, Jan, Ivanek, Robert, Stranecky, Viktor, Sovova, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gubler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., and Kmoch, Stanislav

Subjects
Anemia -- Genetic aspects, Gene mutations -- Analysis, Hyperuricemia -- Genetic aspects, Renin-angiotensin system -- Research, Biological sciences
Abstract

A study reports that inherited autosomal-dominant renin gene mutations are associated with early-onset hypouricosuric hyperuricemia, anemia, and chronic progressive kidney failure. Observations reveal that the mutations alter the functionality of the intrarenal renin-angiotensin system which results in the inherited conditions.

Published
2009

29. Renal and retinal effects of enalapril and losartan in type 1 diabetes

Author

Mauer, Michael, Zinman, Bernard, Gardiner, Robert, Suissa, Samy, Sinaiko, Alan, Strand, Trudy, Drummond, Keith, Donnelly, Sandra, Goodyer, Paul, Gubler, Marie Claire, and Klein, Ronald

Subjects
Diabetic retinopathy -- Control, Enalapril -- Usage, Enalapril -- Patient outcomes, Enalaprilat -- Usage, Enalaprilat -- Patient outcomes, Losartan -- Usage, Losartan -- Patient outcomes, Type 1 diabetes -- Drug therapy, Type 1 diabetes -- Patient outcomes
Abstract

The study aims to evaluate the efficacy of the use of drugs like enalapril and losartan in reducing retinopathy and nephropathy among individuals with type 1 diabetes. The results indicated that the use of such drugs did not reduce the progression of nephropathy, though it did reduce the progression of retinopathy.

Published
2009

30. renal inflammatory network of nephronophthisis.

Author

Quatredeniers, Marceau, Bienaimé, Frank, Ferri, Giulia, Isnard, Pierre, Porée, Esther, Billot, Katy, Birgy, Eléonore, Mazloum, Manal, Ceccarelli, Salomé, Silbermann, Flora, Braeg, Simone, Nguyen-Khoa, Thao, Salomon, Rémi, Gubler, Marie-Claire, Kuehn, E Wolfgang, Saunier, Sophie, and Viau, Amandine

Published
2022
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35. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

Author

Baala, Lekbir, Audollent, Sophie, Martinovic, Jelena, Ozilou, Catherine, Babron, Marie-Claude, Sivanandamoorthy, Sivanthiny, Saunier, Sophie, Salomon, Remi, Gonzales, Marie, Rattenberry, Eleanor, Esculpavit, Chantal, Toutain, Annick, Moraine, Claude, Parent, Philippe, Marcorelles, Pascale, Dauge, Marie-Christine, Roume, Joelle, Le Merrer, Martine, Meiner, Vardiella, Meir, Karen, Menez, Francoise, Beaufrere, Anne-Marie, Francannet, Christine, Tantau, Julia, Sinico, Martine, Dumez, Yves, MacDonald, Fiona, Munnich, Arnold, Lyonnet, Stanislas, Gubler, Marie-Claire, Genin, Emmanuelle, Johnson, Colin A., Vekemans, Michel, Encha-Razavi, Ferechte, and Attie-Bitach, Tania

Subjects
Central nervous system diseases -- Genetic aspects, Central nervous system diseases -- Research, Linkage (Genetics) -- Research, Biological sciences
Abstract

A genomewide linkage scan is performed using 10-cM-resolution microsatellite markers in order to identify new Meckel syndrome (MKS). The results have identified a fourth locus for MKS (MKS4) and the CEP290 gene, which are responsible for MKS.

Published
2007

36. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

Author

Baala, Lekbir, Romano, Stephane, Khaddour, Rana, Saunier, Sophie, Smith, Ursula M., Audollent, Sophie, Ozilou, Catherine, Faivre, Laurence, Laurent, Nicole, Foliguet, Bernard, Munnich, Arnold, Lyonnet, Stanislas, Salomon, Remi, Encha-Razavi, Ferechte, Gubler, Marie-Claire, Boddaert, Nathalie, Lonlay, Pascale De, Johnson, Colin A., Vekemans, Michel, Antignac, Corinne, and Attie-Bitach, Tania

Subjects
Joubert syndrome -- Research, Encephalocele -- Research, Gene mutations -- Research, Allelomorphism -- Research, Biological sciences
Abstract

The identification of Meckle-Gruber syndrome (MKS3) gene mutations in four patients with Joubert syndrome (JS), which defines the MKS3 gene as the sixth locus for JS (JBTS6), is reported. The identification of such MKS3 mutations in patients with JS reveal that JS and MKS are allelic disorders and that other and still-unknown molecular defects could be responsible for the variable phenotypic expression of MKS3 mutations.

Published
2007

39. Respiratory chain deficiency presenting as congenital nephrotic syndrome

Author

Goldenberg, Alice, Ngoc, Linh Huynh, Thouret, Marie-Christine, Cormier-Daire, Valérie, Gagnadoux, Marie-France, Chrétien, Dominique, Lefrançois, Catherine, Geromel, Vanna, Rötig, Agnès, Rustin, Pierre, Munnich, Arnold, Paquis, Véronique, Antignac, Corinne, Gubler, Marie-Claire, Niaudet, Patrick, de Lonlay, Pascale, and Bérard, Etienne

Published
2005
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40. The renal inflammatory network of nephronophthisis

Author

Quatredeniers, Marceau, primary, Bienaimé, Frank, additional, Ferri, Giulia, additional, Isnard, Pierre, additional, Porée, Esther, additional, Billot, Katy, additional, Birgy, Eléonore, additional, Ceccarelli, Salomé, additional, Silbermann, Flora, additional, Braeg, Simone, additional, Nguyen-Khoa, Thao, additional, Salomon, Rémi, additional, Gubler, Marie-Claire, additional, Wolfgang Kuehn, E., additional, Saunier, Sophie, additional, and Viau, Amandine, additional

Published
2021
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41. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Author

Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Auge, Joelle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Geraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Helene, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Ferechte, Vekemans, Michel, and Attie-Bitach, Tania

Subjects
Genetic disorders -- Research, Biological sciences
Published
2005

44. Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

Author

Gribouval, Olivier, Morinière, Vincent, Pawtowski, Audrey, Arrondel, Christelle, Sallinen, Satu-Leena, Saloranta, Carola, Clericuzio, Carol, Viot, Géraldine, Tantau, Julia, Blesson, Sophie, Cloarec, Sylvie, Machet, Marie Christine, Chitayat, David, Thauvin, Christelle, Laurent, Nicole, Sampson, Julian R., Bernstein, Jonathan A, Clemenson, Alix, Prieur, Fabienne, Daniel, Laurent, Levy-Mozziconacci, Annie, Lachlan, Katherine, Alessandri, Jean Luc, Cartault, François, Rivière, Jean Pierre, Picard, Nicole, Baumann, Clarisse, Delezoide, Anne Lise, Belar Ortega, Maria, Chassaing, Nicolas, Labrune, Philippe, Yu, Sui, Firth, Helen, Wellesley, Diana, Bitzan, Martin, Alfares, Ahmed, Braverman, Nancy, Krogh, Lotte, Tolmie, John, Gaspar, Harald, Doray, Bérénice, Majore, Silvia, Bonneau, Dominique, Triau, Stéphane, Loirat, Chantal, David, Albert, Bartholdi, Deborah, Peleg, Amir, Brackman, Damien, Stone, Rosario, DeBerardinis, Ralph, Corvol, Pierre, Michaud, Annie, Antignac, Corinne, and Gubler, Marie Claire

Published
2012
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45. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation

Author

Hammes, Annette, Jian-Kan Guo, Lutsch, Gudrun, Leheste, Joerg-Robert, Landrock, Danilo, Ziegler, Ulrike, Gubler, Marie-Claire, and Schedl, Andreas

Subjects
Cell research -- Analysis, Kidney tubules -- Genetic aspects, Nephroblastoma -- Genetic aspects, Amino acids -- Physiological aspects, Zinc finger proteins -- Physiological aspects, Biological sciences
Abstract

Research has been conducted on the alternative splicing of the Wt1 which results in the amino acid insertion or omission between zinc fingers. Results demonstrate the functions for the splice variants and indicate the importance of the +KTS variants in regulating Sry in the sex determination pathway.

Published
2001

47. INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Author

Boyer, Olivia, Nevo, Fabien, Plaisier, Emmanuelle, Funalot, Benoit, Gribouval, Olivier, Benoit, Geneviève, Cong, Evelyne Huynh, Arrondel, Christelle, Tête, Marie-Josèphe, Montjean, Rodrick, Richard, Laurence, Karras, Alexandre, Pouteil-Noble, Claire, Balafrej, Leila, Bonnardeaux, Alain, Canaud, Guillaume, Charasse, Christophe, Dantal, Jacques, Deschenes, Georges, Deteix, Patrice, Dubourg, Odile, Petiot, Philippe, Pouthier, Dominique, Leguern, Eric, Guiochon-Mantel, Anne, Broutin, Isabelle, Gubler, Marie-Claire, Saunier, Sophie, Ronco, Pierre, Vallat, Jean-Michel, Alonso, Miguel Angel, Antignac, Corinne, and Mollet, Géraldine

Published
2011
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49. Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis

Author

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, and Antignac, Corinne

Published
2011
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