Search Results - "Mollet, Géraldine"

Neurological involvement in monogenic podocytopathies by Boyer, Olivia, Mollet, Géraldine, Dorval, Guillaume

“…Genetic studies of hereditary nephrotic syndrome (NS) have identified more than 50 genes that, if mutated, are responsible for monogenic forms of…”
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Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2 by El Karoui, Khalil, Viau, Amandine, Dellis, Olivier, Bagattin, Alessia, Nguyen, Clément, Baron, William, Burtin, Martine, Broueilh, Mélanie, Heidet, Laurence, Mollet, Géraldine, Druilhe, Anne, Antignac, Corinne, Knebelmann, Bertrand, Friedlander, Gérard, Bienaimé, Frank, Gallazzini, Morgan, Terzi, Fabiola

“…In chronic kidney disease (CKD), proteinuria results in severe tubulointerstitial lesions, which ultimately lead to end-stage renal disease. Here we identify…”
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TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways by 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

“…Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS)…”
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Neurological disorders and hereditary podocytopathies: Some fascinating pathophysiological overlaps by Boyer, Olivia, Mollet, Géraldine, Dorval, Guillaume

“…Genetic studies of hereditary steroid resistant nephrotic syndrome (SRNS) have identified more than 60 genes involved in the development of single-gene,…”
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INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy by 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, Mollet, Géraldine

“…The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy…”
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Urokinase‐type plasminogen activator contributes to amiloride‐sensitive sodium retention in nephrotic range glomerular proteinuria in mice by Hinrichs, Gitte R., Weyer, Kathrin, Friis, Ulla G., Svenningsen, Per, Lund, Ida K., Nielsen, Rikke, Mollet, Géraldine, Antignac, Corinne, Bistrup, Claus, Jensen, Boye L., Birn, Henrik

“…Aim Activation of sodium reabsorption by urinary proteases has been implicated in sodium retention associated with nephrotic syndrome. The study was designed…”
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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome by 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

“…Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by nephrotic syndrome associated with microcephaly and neurological impairment…”
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Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome by Tory, Kálmán, Menyhárd, Dóra K, Woerner, Stéphanie, Nevo, Fabien, Gribouval, Olivier, Kerti, Andrea, Stráner, Pál, Arrondel, Christelle, Cong, Evelyne Huynh, Tulassay, Tivadar, Mollet, Géraldine, Perczel, András, Antignac, Corinne

“…Kálmán Tory, Corinne Antignac and colleagues report that a variant of NPHS2 , encoding p.Arg229Gln, causes nephrotic syndrome only when present in trans with…”
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Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene by Menara, Giulia, Lefort, Nathalie, Antignac, Corinne, Mollet, Géraldine

“…Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare…”
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Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome by Serrano-Perez, Maria-Carmen, Tilley, Frances C., Nevo, Fabien, Arrondel, Christelle, Sbissa, Selim, Martin, Gaëlle, Tory, Kalman, Antignac, Corinne, Mollet, Géraldine

“…Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of…”
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A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome by Kuzmuk, Valeryia, Pranke, Iwona, Rollason, Ruth, Butler, Matthew, Ding, Wen Y, Beesley, Matthew, Waters, Aoife M, Coward, Richard J, Sessions, Richard, Tuffin, Jack, Foster, Rebecca R, Mollet, Géraldine, Antignac, Corinne, Edelman, Aleksander, Welsh, Gavin I, Saleem, Moin A

“…Podocin is a key membrane scaffolding protein of the kidney podocyte essential for intact glomerular filtration. Mutations in NPHS2, the podocin-encoding gene,…”
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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS by Huynh Cong, Evelyne, 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

“…Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated in familial forms of primary FSGS. We identified a homozygous missense…”
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Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis by BOYER, Olivia, BENOIT, Geneviève, GRUNFELD, Jean-Pierre, LEGENDRE, Christophe, JOLY, Dominique, RIEU, Philippe, MOHSIN, Nabil, HANNEDOUCHE, Thierry, MOAL, Valerie, GUBLER, Marie-Claire, BROUTIN, Isabelle, MOLLET, Géraldine, GRIBOUVAL, Olivier, ANTIGNAC, Corinne, NEVO, Fabien, TETE, Marie-Josèphe, DANTAL, Jacques, GILBERT-DUSSARDIER, Brigitte, TOUCHARD, Guy, KARRAS, Alexandre, PRESNE, Claire

“…The recent identification of mutations in the INF2 gene, which encodes a member of the formin family of actin-regulating proteins, in cases of familial FSGS…”
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Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome by MOLLET, Géraldine, RATELADE, Julien, GUBLER, Marie-Claire, ANTIGNAC, Corinne, ESQUIVEL, Ernie L, BOYER, Olivia, ONETTI MUDA, Andrea, MORISSET, Ludivine, AGUIRRE LAVIN, Tiphaine, KITZIS, David, DALLMAN, Margaret J, BUGEON, Laurence, HUBNER, Norbert

“…Podocin is a critical component of the glomerular slit diaphragm, and genetic mutations lead to both familial and sporadic forms of steroid-resistant nephrotic…”
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NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum by Bouchireb, Karim, Boyer, Olivia, Gribouval, Olivier, Nevo, Fabien, Huynh-Cong, Evelyne, Morinière, Vincent, Campait, Raphaëlle, Ars, Elisabet, Brackman, Damien, Dantal, Jacques, Eckart, Philippe, Gigante, Maddalena, Lipska, Beata S., Liutkus, Aurélia, Megarbane, André, Mohsin, Nabil, Ozaltin, Fatih, Saleem, Moin A., Schaefer, Franz, Soulami, Kenza, Torra, Roser, Garcelon, Nicolas, Mollet, Géraldine, Dahan, Karin, Antignac, Corinne

“…ABSTRACT Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal‐recessive form of nonsyndromic steroid‐resistant nephrotic syndrome in…”
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Sodium retention by uPA‐plasmin‐ENaC in nephrotic syndrome—Authors reply by Hinrichs, Gitte R., Weyer, Kathrin, Friis, Ulla G., Svenningsen, Per, Lund, Ida Katrine, Nielsen, Rikke, Mollet, Géraldine, Antignac, Corinne, Bistrup, Claus, Jensen, Boye L., Birn, Henrik

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C-terminal oligomerization of podocin mediates interallelic interactions by Stráner, Pál, Balogh, Eszter, Schay, Gusztáv, Arrondel, Christelle, Mikó, Ágnes, L'Auné, Gerda, Benmerah, Alexandre, Perczel, András, K. Menyhárd, Dóra, Antignac, Corinne, Mollet, Géraldine, Tory, Kálmán

“…Interallelic interactions of membrane proteins are not taken into account while evaluating the pathogenicity of sequence variants in autosomal recessive…”
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Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes by Mollet, Géraldine, Silbermann, Flora, Delous, Marion, Salomon, Rémi, Antignac, Corinne, Saunier, Sophie

“…Nephrocystin and nephrocystin-4 are newly identified proteins involved in familial juvenile nephronophthisis, an autosomal recessive nephropathy characterized…”
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P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids by Saei, Hassan, Boisson, Marie, Arrondel, Christelle, Estebe, Bruno, Cagnard, Nicolas, Bras, Marc, Morinière, Vincent, Arkoub, Zaïna Aït, Heidet, Laurence, Gribouval, Olivier, Nitschké, Patrick, Antignac, Corinne, Mollet, Géraldine, Dorval, Guillaume

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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome by 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

“…N 6 -threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t 6 A) is a universal modification essential for translational accuracy and efficiency. The t 6…”
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