Search Results - "Dion, Camille"

Primordial germ cell DNA demethylation and development require DNA translesion synthesis by Shah, Pranay, Hill, Ross, Dion, Camille, Clark, Stephen J., Abakir, Abdulkadir, Willems, Jeroen, Arends, Mark J., Garaycoechea, Juan I., Leitch, Harry G., Reik, Wolf, Crossan, Gerry P.

“…Mutations in DNA damage response (DDR) factors are associated with human infertility, which affects up to 15% of the population. The DDR is required during…”
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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells by Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphaël, Laberthonnière, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altié, Alexandre, Nguyen, Karine, Lévy, Nicolas, Robin, Jérôme D, Magdinier, Frédérique

“…Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling…”
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report by Gaillard, Marie-Cécile, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle Salort, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc

“…The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD…”
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1750-P: Differential Impacts of Two Novel HNF1A Variants Associated with Familial Young-Onset Diabetes on Protein Function and Insulin Secretion In Vitro by CHERKAOUI, INES, DU, QIAN, DION, CAMILLE, LEITCH, HARRY, CHABOSSEAU, PAULINE L., EGLI, DIETRICH M., SACHEDINA, DILSHAD, WASTIN, JULES, MISRA, SHIVANI, RUTTER, GUY A.

“…Introduction: Mutations in the HNF1A are a cause of monogenic diabetes and are usually dominantly inherited. We report in vitro and clinical studies on two…”
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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype by Laberthonnière, Camille, Delourme, Mégane, Chevalier, Raphaël, Dion, Camille, Ganne, Benjamin, Hirst, David, Caron, Leslie, Perrin, Pierre, Adélaïde, José, Chaffanet, Max, Xue, Shifeng, Nguyen, Karine, Reversade, Bruno, Déjardin, Jérôme, Baudot, Anaïs, Robin, Jérôme D, Magdinier, Frédérique

“…Abstract Many genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic…”
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development by Gordon, Christopher T, Xue, Shifeng, Yigit, Gökhan, Filali, Hicham, Chen, Kelan, Rosin, Nadine, Yoshiura, Koh-ichiro, Oufadem, Myriam, Beck, Tamara J, McGowan, Ruth, Magee, Alex C, Altmüller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D, Nürnberg, Peter, Meschede, Dieter, Mühlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschké, Patrick, Ragge, Nicola, Lévy, Nicolas, Tunçbilek, Gökhan, Teo, Audrey S M, Cunningham, Michael L, Sefiani, Abdelaziz, Kayserili, Hülya, Murphy, James M, Chatdokmaiprai, Chalermpong, Hillmer, Axel M, Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas, Magdinier, Frédérique, Javed, Asif, Blewitt, Marnie E, Amiel, Jeanne, Wollnik, Bernd, Reversade, Bruno

“…Jeanne Amiel, Bernd Wollnik, Bruno Reversade and colleagues report de novo missense mutations in SMCHD1 in patients with Bosma arhinia microphthalmia syndrome…”
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SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite by Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique

“…Abstract The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive…”
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers by Gaillard, Marie-Cécile, Roche, Stéphane, Dion, Camille, Tasmadjian, Armand, Bouget, Gwenaëlle, Salort-Campana, Emmanuelle, Vovan, Catherine, Chaix, Charlene, Broucqsault, Natacha, Morere, Julia, Puppo, Francesca, Bartoli, Marc, Levy, Nicolas, Bernard, Rafaëlle, Attarian, Shahram, Nguyen, Karine, Magdinier, Frédérique

“…OBJECTIVE:We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is…”
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The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans by Wyrwoll, Margot J., Gaasbeek, Channah M., Golubickaite, Ieva, Stakaitis, Rytis, Oud, Manon S., Nagirnaja, Liina, Dion, Camille, Sindi, Emad B., Leitch, Harry G., Jayasena, Channa N., Sironen, Anu, Dicke, Ann-Kristin, Rotte, Nadja, Stallmeyer, Birgit, Kliesch, Sabine, Grangeiro, Carlos H.P., Araujo, Thaís F., Lasko, Paul, D’Hauwers, Kathleen, Smits, Roos M., Ramos, Liliana, Xavier, Miguel J., Conrad, Don F., Almstrup, Kristian, Veltman, Joris A., Tüttelmann, Frank, van der Heijden, Godfried W.

“…Infertility affects around 7% of the male population and can be due to severe spermatogenic failure (SPGF), resulting in no or very few sperm in the ejaculate…”
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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy by Gaillard, Marie-Cécile, Broucqsault, Natacha, Morere, Julia, Laberthonnière, Camille, Dion, Camille, Badja, Cherif, Roche, Stéphane, Nguyen, Karine, Magdinier, Frédérique, Robin, Jérôme D.

“…Facio-Scapulo Humeral dystrophy (FSHD) is the third most common myopathy, affecting 1 amongst 10,000 individuals (FSHD1, OMIM #158900). This autosomal dominant…”
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Differential DNA methylation of the D sub(4) Z sub(4) repeat in patients with FSHD and asymptomatic carriers by Gaillard, Marie-Cecile, Roche, Stephane, Dion, Camille, Tasmadjian, Armand, Bouget, Gwenaelle, Salort-Campana, Emmanuelle, Vovan, Catherine, Chaix, Charlene, Broucqsault, Natacha, Morere, Julia

“…Objective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is…”
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism by Roche, Stéphane, Dion, Camille, Broucqsault, Natacha, Laberthonnière, Camille, Gaillard, Marie-Cécile, Robin, Jérôme D, Lagarde, Arnaud, Puppo, Francesca, Vovan, Catherine, Chaix, Charlene, Campana, Emmanuelle Salort, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Nguyen, Karine, Magdinier, Frédérique

“…To investigate the distribution of cytosine-guanine dinucleotide (CpG) sites with a variable level of DNA methylation of the D4Z4 macrosatellite element in…”
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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite by Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Robaglia-Schlupp, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Salort-Campana, Emmanuelle, Binétruy, Bernard, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin-Ducellier, Jérôme, Magdinier, Frédérique

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