Search Results - "Cécile Jeanpierre"

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man by Barak, Hila, Huh, Sung-Ho, Chen, Shuang, Jeanpierre, Cécile, Martinovic, Jelena, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Salomon, Rémi, Antignac, Corinne, Ornitz, David M., Kopan, Raphael

“…The identity of niche signals necessary to maintain embryonic nephron progenitors is unclear. Here we provide evidence that Fgf20 and Fgf9, expressed in the…”
Get full text

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract by Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile

“…Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected…”
Get full text

Small Glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) Syndrome by Dahan, Karine, MD, Kamal, Maud, PhD, Noël, Laure Hélène, MD, Jeanpierre, Cécile, PhD, Gubler, Marie Claire, PhD, Brousse, Nicole, PhD, Mariaud de Serre, Natacha Patey, MD

“…Background Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a genetic disorder caused by a deletion of band 11p13,…”
Get full text

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation by Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie

“…Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that…”
Get full text

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes by 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, Heidet, Laurence

“…Background Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a…”
Get full text

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion by Dupont, Marie Alice, Humbert, Camille, Huber, Céline, Siour, Quentin, Guerrera, Ida Chiara, Jung, Vincent, Christensen, Anni, Pouliet, Aurore, Garfa-Traoré, Meriem, Nitschké, Patrick, Injeyan, Marie, Millar, Kathryn, Chitayat, David, Shannon, Patrick, Girisha, Katta Mohan, Shukla, Anju, Mechler, Charlotte, Lorentzen, Esben, Benmerah, Alexandre, Cormier-Daire, Valérie, Jeanpierre, Cécile, Saunier, Sophie, Delous, Marion

“…Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively…”
Get full text

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes by Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Jelena Martinovic, Pierre Dechelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michele Mathieu, Bruno Turlin, Tania Attie-Bitach, Rémi Salomon, Marie-Claire Gübler, Corinne Antignac, Laurence Heidet

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection in utero is now common with…”
Get full text

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice by De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile

“…Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected…”
Get full text

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish by Reilly, Madeline Louise, Stokman, Marijn F, Magry, Virginie, Jeanpierre, Cecile, Alves, Marine, Paydar, Mohammadjavad, Hellinga, Jacqueline, Delous, Marion, Pouly, Daniel, Failler, Marion, Martinovic, Jelena, Loeuillet, Laurence, Leroy, Brigitte, Tantau, Julia, Roume, Joelle, Gregory-Evans, Cheryl Y, Shan, Xianghong, Filges, Isabel, Allingham, John S, Kwok, Benjamin H, Saunier, Sophie, Giles, Rachel H, Benmerah, Alexandre

“…Abstract Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Syndromic…”
Get full text

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis by Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau-Frachon, Sophie, Jeanpierre, Cécile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole-Feysot, Christine, Nitschke, Patrick, Pariente, Danièle, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, Jacquemin, Emmanuel, Henrion-Caude, Alexandra, Saunier, Sophie

“…ABSTRACT Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have…”
Get full text

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans by Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile

“…Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic)…”
Get full text

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases by Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence

“…We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were…”
Get full text

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 by Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

“…A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan…”
Get full text

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros by BURCKLE, Céline, GAUDE, Helori-Mael, VESQUE, Christine, SILBERMANN, Flora, SALOMON, Rémi, JEANPIERRE, Cécile, ANTIGNAC, Corinne, SAUNIER, Sophie, SCHNEIDER-MAUNOURY, Sylvie

“…Nephronophthisis is a hereditary nephropathy characterized by interstitial fibrosis and cyst formation. It is caused by mutations in NPHP genes encoding the…”
Get full text

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) by Kosfeld, Anne, Kreuzer, Martin, Daniel, Christoph, Brand, Frank, Schäfer, Anne-Kathrin, Chadt, Alexandra, Weiss, Anna-Carina, Riehmer, Vera, Jeanpierre, Cécile, Klintschar, Michael, Bräsen, Jan Hinrich, Amann, Kerstin, Pape, Lars, Kispert, Andreas, Al-Hasani, Hadi, Haffner, Dieter, Weber, Ruthild G.

“…Congenital anomalies of the kidneys and urinary tract (CAKUT) are genetically highly heterogeneous leaving most cases unclear after mutational analysis of the…”
Get full text

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) by Renkema, Kirsten Y., Winyard, Paul J., Skovorodkin, Ilya N., Levtchenko, Elena, Hindryckx, An, Jeanpierre, Cécile, Weber, Stefanie, Salomon, Rémi, Antignac, Corinne, Vainio, Seppo, Schedl, Andreas, Schaefer, Franz, Knoers, Nine V.A.M., Bongers, Ernie M.H.F.

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies within the…”
Get full text

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas by Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric

“…Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified…”
Get full text

Deducing the stage of origin of Wilms' tumours from a developmental series of Wt1-mutant mice by Berry, Rachel L, Ozdemir, Derya D, Aronow, Bruce, Lindström, Nils O, Dudnakova, Tatiana, Thornburn, Anna, Perry, Paul, Baldock, Richard, Armit, Chris, Joshi, Anagha, Jeanpierre, Cécile, Shan, Jingdong, Vainio, Seppo, Baily, James, Brownstein, David, Davies, Jamie, Hastie, Nicholas D, Hohenstein, Peter

“…Wilms' tumours, paediatric kidney cancers, are the archetypal example of tumours caused through the disruption of normal development. The genetically…”
Get full text

The copy number variation landscape of congenital anomalies of the kidney and urinary tract by Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasà, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., Sanna-Cherchi, Simone

“…Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number…”
Get full text

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects by Jeanpierre, Cécile, Macé, Guillaume, Parisot, Mélanie, Morinière, Vincent, Pawtowsky, Audrey, Benabou, Marion, Martinovic, Jelena, Amiel, Jeanne, Attié-Bitach, Tania, Delezoide, Anne-Lise, Loget, Philippe, Blanchet, Patricia, Gaillard, Dominique, Gonzales, Marie, Carpentier, Wassila, Nitschke, Patrick, Tores, Frédéric, Heidet, Laurence, Antignac, Corinne, Salomon, Rémi

“…The RET/GDNF signalling pathway plays a crucial role during development of the kidneys and the enteric nervous system. In humans, RET activating mutations…”
Get more information