Mouse models of Hirschsprung Disease and other developmental disorders of the Enteric Nervous System: Old and new players

Autor Bondurand, Nadege, Southard-Smith, E. Michelle
Vydáno v Dev Biol (2016)

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

Autor Sánchez-Mejías, Avencia, Watanabe, Yuli, Fernández, Raquel M., López-Alonso, Manuel, Antiñolo, Guillermo, Bondurand, Nadege, Borrego, Salud
Vydáno 2010

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

Autor Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege
Vydáno 2012

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Autor Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique
Vydáno 2012

Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis

Autor Gazquez, Elodie, Watanabe, Yuli, Broders-Bondon, Florence, Paul-Gilloteaux, Perrine, Heysch, Julie, Baral, Viviane, Bondurand, Nadège, Dufour, Sylvie
Vydáno v Sci Rep (2016)

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

Autor Herbarth, Beate, Pingault, Veronique, Bondurand, Nadege, Kuhlbrodt, Kirsten, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Lemort, Nicole, Goossens, Michel, Wegner, Michael
Vydáno 1998

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

Autor Pingault, Veronique, Pierre-Louis, Laurence, Chaoui, Asma, Verloes, Alain, Sarrazin, Elisabeth, Brandberg, Goran, Bondurand, Nadege, Uldall, Peter, Manouvrier-Hanu, Sylvie
Vydáno v Am J Med Genet A (2014)

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

Autor Gacem, Nadjet, Kavo, Anthula, Zerad, Lisa, Richard, Laurence, Mathis, Stephane, Kapur, Raj P., Parisot, Melanie, Amiel, Jeanne, Dufour, Sylvie, de la Grange, Pierre, Pingault, Veronique, Vallat, Jean Michel, Bondurand, Nadege
Vydáno v Nat Commun (2020)

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

Autor Radu, Anca G., Torch, Sakina, Fauvelle, Florence, Pernet-Gallay, Karin, Lucas, Anthony, Blervaque, Renaud, Delmas, Véronique, Schlattner, Uwe, Lafanechère, Laurence, Hainaut, Pierre, Tricaud, Nicolas, Pingault, Véronique, Bondurand, Nadège, Bardeesy, Nabeel, Larue, Lionel, Thibert, Chantal, Billaud, Marc
Vydáno v Sci Adv (2019)

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

Autor Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M. W., Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
Vydáno 2013

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Autor Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 
Vydáno 2007

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Autor Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege
Vydáno 2013

White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies()

Autor Burns, Alan J., Goldstein, Allan M., Newgreen, Donald F., Stamp, Lincon, Schäfer, Karl-Herbert, Metzger, Marco, Hotta, Ryo, Young, Heather M., Andrews, Peter W., Thapar, Nikhil, Belkind-Gerson, Jaime, Bondurand, Nadege, Bornstein, Joel C., Chan, Wood Yee, Cheah, Kathryn, Gershon, Michael D., Heuckeroth, Robert O., Hofstra, Robert M.W., Just, Lothar, Kapur, Raj P., King, Sebastian K., McCann, Conor J., Nagy, Nandor, Ngan, Elly, Obermayr, Florian, Pachnis, Vassilis, Pasricha, Pankaj J., Sham, Mai Har, Tam, Paul, Berghe, Pieter Vanden
Vydáno v Dev Biol (2016)

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

Autor Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby M.E.I., Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom E.J., Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E., Hofstra, Robert, de Coo, Irenaeus F.M., Tabet, Anne-Claude, Molina, Thierry J., Keren, Boris, Brooks, Alice, Smeets, Hubert J.M., Marklund, Ulrika, Gordon, Christopher T., Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège
Vydáno v J Clin Invest (2021)