Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits

por Fregeac, Julien, Moriceau, Stéphanie, Poli, Antoine, Nguyen, Lam Son, Oury, Franck, Colleaux, Laurence
Publicado 2020

Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments

por Le, Thi Khanh, Duong, Quang Hieu, Baylot, Virginie, Fargette, Christelle, Baboudjian, Michael, Colleaux, Laurence, Taïeb, David, Rocchi, Palma
Publicado 2023

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders

por Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Cagnard, Nicolas, Iyer, Anand, Anink, Jasper, Aronica, Eleonora, Alibeu, Olivier, Nitschke, Patrick, Colleaux, Laurence
Publicado 2018

Contiguous mutation syndrome in the era of high-throughput sequencing

por Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence
Publicado 2015

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

por Nguyen, Lam Son, Lepleux, Marylin, Makhlouf, Mélanie, Martin, Christelle, Fregeac, Julien, Siquier-Pernet, Karine, Philippe, Anne, Feron, François, Gepner, Bruno, Rougeulle, Claire, Humeau, Yann, Colleaux, Laurence
Publicado 2016

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

por Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Foulquier, François, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent
Publicado 2018

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

por Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent
Publicado 2016

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

por Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna’a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd
Publicado 2017

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

por Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C., Pie, Juan, Puisac, Beatriz, de Miranda, Noel FCC, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang
Publicado 2013

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

por Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, Wagner, Eric J.
Publicado 2022

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

por Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S. C., Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S., Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G., Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent
Publicado 2020