Structural variation-associated expression changes are paralleled by chromatin architecture modifications.

Autor: Nele Gheldof, Robert M Witwicki, Eugenia Migliavacca, Marion Leleu, Gérard Didelot, Louise Harewood, Jacques Rougemont, Alexandre Reymond

Publikováno v: PLoS ONE, Vol 8, Iss 11, p e79973 (2013)

Copy number variants (CNVs) influence the expression of genes that map not only within the rearrangement, but also to its flanks. To assess the possible mechanism(s) underlying this "neighboring effect", we compared intrachromosomal interactions and

Externí odkaz: https://doaj.org/article/646b4d9f7a25426b9df984162de41f61

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Autor: Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS

Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and beha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea30c8d8ed101ea6de6cdb0eddb7b91
http://europepmc.org/articles/PMC3494011

New in situ hybridization towards single-RNA detection

Autor: Anne Débarre, Thomas Preat, A. Richard, Daniel Comas, E. Milhiet, Gérard Didelot, Paul Tchénio

Publikováno v: Journal of Luminescence. 127:276-279

Fluorescence in situ hybridization (ISH) could be a powerful tool for analyzing the dynamics of memory phases if a semi-quantitative measurement of mRNA levels could be performed with a cellular resolution. While such a method does not yet exist, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8be639bea71d2bf05d56ed3c44d8c38
https://doi.org/10.1016/j.jlumin.2007.02.033

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Autor: Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne M. Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, Jacques S. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Robert Witwicki, Gérard Didelot, Ilse van der Werf, Ali A. Alfaiz, Marianna Zazhytska, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltan Kutalik, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Bena, Anita Rauch, Sonia Bouquillon, Bruno Delobel, Odile Boute, Bénédicte Duban-Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiesa, Boris Keren, Brigitte Gilbert-Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck Thambo, Michèle Mathieu-Dramard, Ghislaine Plessis, Frank Kooy, Hilde Peeters, Katrin Ounap, Anneke T. Vulto-van Silfhout, Bert B. de Vries, Ellen van Binsbergen, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan-Separovic, John A. Philipps, Richard J. Ellis

Publikováno v: American journal of human genetics, 96(5), 784-796. Cell Press
American journal of human genetics
American Journal of Human Genetics, 96, 5, pp. 784-96
American Journal of Human Genetics, 96(5), 784. Cell Press
American journal of human genetics, 96(5), 784-96. Cell Press
16p11.2 European Consortium 2015, ' A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology ', American journal of human genetics, vol. 96, no. 5, pp. 784-96 . https://doi.org/10.1016/j.ajhg.2015.04.002
American Journal of Human Genetics, 96, 784-96

Item does not contain fulltext The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4981bcb78f389f2c4242a28acb5843
https://pure.amc.nl/en/publications/a-potential-contributory-role-for-ciliary-dysfunction-in-the-16p112-600-kb-bp4bp5-pathology(acf5d89c-bed0-43e8-b61c-d793bebcc448).html

Exploiting light chains for the scalable generation and platform purification of native human bispecific IgG

Autor: Giovanni Magistrelli, Pauline Malinge, Jean-François Depoisier, Séverine Fagète, Marie Kosco-Vilbois, Laura Cons, Delphine Schrag, Gérard Didelot, Amélie Laurendon, Krzysztof Masternak, Nicolas Fouque, Yves Poitevin, Mathias Alcoz, Franck Gueneau, Sébastien Calloud, Laura Di Grazia, Walter Ferlin, Marie Corbier, Nicolas Fischer, Vanessa Buatois, Nessie Costes, Nicolas Bosson, Greg Elson, Zoë Johnson, Ulla Ravn, Valéry Moine, Sylvain Raimondi, Guillemette Pontini, Elie Dheilly, Lucile Broyer, Pierre-Alexis Cayatte, François Rousseau

Publikováno v: Nature Communications

Bispecific antibodies enable unique therapeutic approaches but it remains a challenge to produce them at the industrial scale, and the modifications introduced to achieve bispecificity often have an impact on stability and risk of immunogenicity. Her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9ea4702c53803a4a5c749ac8dbdc62
https://pubmed.ncbi.nlm.nih.gov/25672245