Review and update of mutations causing Waardenburg syndrome von Pingault, Véronique, Ente, Dorothée, Dastot-Le Moal, Florence, Goossens, Michel, Marlin, Sandrine, Bondurand, Nadège

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An ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation von Sinigaglia, Ketty, Cherian, Anna, Du, Qiupei, Lacovich, Valentina, Vukić, Dragana, Melicherová, Janka, Linhartova, Pavla, Zerad, Lisa, Stejskal, Stanislav, Malik, Radek, Prochazka, Jan, Bondurand, Nadège, Sedláček, Radislav, O’Connell, Mary A., Keegan, Liam P.

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Identification and functional analysis of SOX10 missense mutations in different subtypes of waardenburg syndrome von Chaoui, Asma, Watanabe, Yuli, Touraine, Renaud, Baral, Viviane, Goossens, Michel, Pingault, Veronique, Bondurand, Nadege

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ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome von Ghoumid, Jamal, Drevillon, Loïc, Alavi-Naini, Seyedeh Maryam, Bondurand, Nadège, Rio, Marlène, Briand-Suleau, Audrey, Nasser, Mayssa, Goodwin, Linda, Raymond, Patrick, Yanicostas, Constantin, Goossens, Michel, Lyonnet, Stanislas, Mowat, David, Amiel, Jeanne, Soussi-Yanicostas, Nadia, Giurgea, Irina

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Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis von Gazquez, Elodie, Watanabe, Yuli, Broders-Bondon, Florence, Paul-Gilloteaux, Perrine, Heysch, Julie, Baral, Viviane, Bondurand, Nadège, Dufour, Sylvie

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Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development von Stanchina, Laure, Van de Putte, Tom, Goossens, Michel, Huylebroeck, Danny, Bondurand, Nadege

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Sox10 and Itgb1 interaction in enteric neural crest cell migration von Watanabe, Yuli, Broders-Bondon, Florence, Baral, Viviane, Paul-Gilloteaux, Perrine, Pingault, Veronique, Dufour, Sylvie, Bondurand, Nadege

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A 22q13.1 duplication in mosaicism including SOX10 von Bertani-Torres, William, Serey-Gaut, Margaux, de Oliveira, Judite, Bole, Christine, Parisot, Mélanie, Nistschké, Patrick, Maurin, Marie-Laure, Lapierre, Jean-Michel, Loundon, Natalie, Belhous, Kahina, Bondurand, Nadège, Marlin, Sandrine, Pingault, Véronique

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The role of SOX10 during enteric nervous system development von Bondurand, Nadege, Sham, Mai Har

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Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease von 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

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News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders von Bondurand, Nadege, Dufour, Sylvie, Pingault, Veronique

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Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players von Bondurand, Nadege, Southard-Smith, E. Michelle

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LKB1 specifies neural crest cell fates through pyruvate-alanine cycling von 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

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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis von Mousty, Eve, Issa, Sarah, Grosjean, Frédéric, Col, Jean-Yves, Khau Van Kien, Philippe, Perez, Marie-Josée, Petrov, Yuliya, Reboul, Dorothée, Faubert, Emmanuelle, Le Gac, Marie-Pascale, Bondurand, Nadège, Chiesa, Jean, Pingault, Véronique

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

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

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans von Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, 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 Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

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SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism von PINGAULT, Véronique, GIRARD, Mathilde, BONDURAND, Nadège, DORKINS, Huw, VAN MALDERGEM, Lionel, MOWAT, David, SHIMOTAKE, Takashi, VERMA, Ishwar, BAUMANN, Clarisse, GOOSSENS, Michel

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Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients von Kuhlbrodt, Kirsten, Schmidt, Claudia, Sock, Elisabeth, Pingault, Véronique, Bondurand, Nadège, Goossens, Michel, Wegner, Michael

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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 von BONDURAND, Nadége, FOUQUET, Virginie, BARAL, Viviane, LECERF, Laure, LOUNDON, Natalie, GOOSSENS, Michel, DURIEZ, Benedicte, LABRUNE, Philippe, PINGAULT, Veronique

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