Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Autor: Alexandre Reymond, Borja Rodriguez-Herreros, Stefan Ehrlich, Tiago Reis Marques, Roberto Roiz-Santiañez, Barbara Franke, Henry Brodaty, Ryota Hashimoto, Tobias Kaufmann, Thomas Gareau, Gary Donohoe, Masataka Kikuchi, David Ames, Greig I. de Zubicaray, Vince D. Calhoun, Zdenka Pausova, Anouk den Braber, Laurena Holleran, Katharina Wittfeld, Roel A. Ophoff, G. Bragi Walters, Sandra Martin-Brevet, Karen A. Mather, Dan J. Stein, Costin Leu, Rachel M. Brouwer, Norman Delanty, Nicholas G. Martin, Arvid Lundervold, Jean Shin, Geneviève Richard, Dorret I. Boomsma, Gudrun A. Jonsdottir, Emma Knowles, Margie Wright, Magnus O. Ulfarsson, Yunpeng Wang, Thomas W. Mühleisen, Vincent Frouin, Andrew J. Schork, Peter R. Schofield, Michael Andersson, Katrin Amunts, Hans J. Grabe, Wei Wen, Manon Bernard, James Rucker, Anbu Thalamuthu, Hans-Richard Brattbak, Joanne E. Curran, Hidenaga Yamamori, Bruce Pike, Brenda W.J.H. Penninx, Derek W. Morris, Masaki Fukunaga, Aiden Corvin, René S. Kahn, John Blangero, Yuri Milaneschi, Nynke A. Groenewold, Mark McCormack, Allan F. McRae, Clara Moreau, Gunter Schumann, Robin M. Murray, Bogdan Draganski, Simone Ciufolini, Carlos Prieto, Diana Tordesillas-Gutiérrez, Astri J. Lundervold, Sinead Kelly, Simon E. Fisher, Erik G. Jönsson, Stefan Johansson, Neda Jahanshad, Elena Shumskaya, Christopher D. Whelan, Tomáš Paus, Evangelos Vassos, Tetyana Zayats, Sébastien Jacquemont, Benedicto Crespo-Facorro, Erin Burke Quinlan, Anja Vaskinn, Ingrid Agartz, Knut K. Kolskår, Robin Bülow, Alexander Teumer, Sven Cichon, Neeltje E.M. van Haren, Jayne Y. Hehir-Kwa, Anders M. Dale, Nhat Trung Doan, Stephanie Le Hellard, John B.J. Kwok, Lars Nyberg, Sigrid Botne Sando, Omar Gustafsson, Gianpiero L. Cavalleri, Andreas Heinz, Ida E Sønderby, Sonja M C de Zwarte, Hreinn Stefansson, Derrek P. Hibar, Daniel Quintana, Vidar M. Steen, Jouke-Jan Hottenga, Paola Dazzan, David C. Glahn, Shareefa Dalvie, Lars T. Westlye, Nicholas B. Blackburn, Loes M. Olde Loohuis, Kari Stefansson, Dennis van der Meer, Lianne Schmaal, Anne Uhlmann, Nicola J. Armstrong, Stacy Steinberg, Christiane Jockwitz, Jarek Rokicki, Hilleke E Hulshoff, Sanjay M. Sisodiya, Anne-Marthe Sanders, Jan Haavik, Perminder S. Sachdev, Asta Håberg, Samuel R. Mathias, Dennis van 't Ent, Torill Ueland, Per Hoffmann, Terry L. Jernigan, Abdel Abdellaoui, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda, Paul M. Thompson, Eco J. C. de Geus, Céline S. Reinbold, Jingyu Liu, Juan M. Peralta, Sara Pudas, Jan Egil Nordvik, Srdjan Djurovic, David Mothersill, Lachlan T. Strike, Chi-Hua Chen, Jessica A. Turner, Manon H.J. Hillegers, Thomas Espeseth, Janita Bralten, Katie L. McMahon

Publikováno v: Molecular Psychiatry
2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
Molecular Psychiatry, 25, 584-602. Nature Publishing Group
Molecular Psychiatry, 25, 3, pp. 584-602
Molecular psychiatry, vol. 25, no. 3, pp. 584-602
Molecular Psychiatry, 25, 584-602
Molecular Psychiatry, 25(3), 584-602. Nature Publishing Group
Molecular Psychiatry, 25, pp. 584-602
Molecular psychiatry 25(3), 584-602 (2020). doi:10.1038/s41380-018-0118-1
Sønderby, I E, Andreassen, O A, Abdellaoui, A, Boomsma, D I, de Geus, E JC, den Braber, A, Hottenga, J J, W J H Penninx, B, Milaneschi, Y, van t Ent, D & ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1
ENIGMA-CNV working group 2020, ' Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia ', Molecular Psychiatry, vol. 25, no. 3, pp. 584-602 . https://doi.org/10.1038/s41380-018-0118-1

Publisher's version (útgefin grein)
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8892573af184bdde7b49c9035bbb920d
https://doi.org/10.1038/s41380-018-0118-1

NovelPTENmutations in neurodevelopmental disorders and macrocephaly

Autor: Lucia Galli, Vincenzo Sorrentino, Alfredo Orrico, Sabrina Buoni, Alessandra Orsi, Giuseppina Vonella

Publikováno v: Clinical Genetics. 75:195-198

Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3d13a0a6f5baff85756ef8dbc8c295d
https://doi.org/10.1111/j.1399-0004.2008.01074.x

SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region

Autor: Tobias M. Boeckers, Chiara Verpelli, Marie Germaine Mameza, Margarete Bamann, Elena Dvoretskova, Igor L. Barsukov, Alexander Dityatev, Hans-Jürgen Kreienkamp, Michael Schoen, Carlo Sala, Türkan Güler, Hans-Hinrich Hönck

Publikováno v: The journal of biological chemistry 288(37), 26697-26708 (2013). doi:10.1074/jbc.M112.424747

Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders. We have analyzed the functional relevance of several SHANK3 mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5855ba258626c5ce6305b9ea7a841cea