PMC Links for OMIM (Select 600456) - PMC

Select item 56736041.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, Deciphering Developmental Disorders Study, David R. FitzPatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis-Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten-Janssen, Erik-Jan Kamsteeg, Frederic T. Mau-Them, Ange-Line Bruel, Alain Verloes, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson Ware, Dean Jones, Yu-Chi Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stockler, Anna Lehman, Boris Keren, Marie-Christine Nougues, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Emilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon L. Girard, Saadet Mercimek-Mahmutoglu, Cyrus Boelman, Guy A. Rouleau, Ingrid E. Scheffer, Heather C. Mefford, Danielle M. Andrade, Elsa Rossignol, Berge A. Minassian, Jacques L. Michaud

Am J Hum Genet. 2017 Nov 2; 101(5): 664–685. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.008

PMCID:: PMC5673604

Abstract Article PDF–922K

Select item 53980942.

Autocrine BDNF-TrkB signalling within a single dendritic spine

Stephen C. Harward, Nathan G. Hedrick, Charles E. Hall, Paula Parra-Bueno, Teresa A. Milner, Enhui Pan, Tal Laviv, Barbara L. Hempstead, Ryohei Yasuda, James O. McNamara

Nature. Author manuscript; available in PMC 2017 Oct 6.

Published in final edited form as: Nature. 2016 Oct 6; 538(7623): 99–103. Published online 2016 Sep 28. doi: 10.1038/nature19766

PMCID:: PMC5398094

Abstract Article PDF–1.9M

Select item 53660693.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie

J Med Genet. 2017 Apr; 54(4): 260–268. Published online 2016 Nov 24. doi: 10.1136/jmedgenet-2016-104215

PMCID:: PMC5366069

Abstract Article PDF–750K

Select item 41781624.

Genetic dissection of TrkB activated signalling pathways required for specific aspects of the taste system

Juraj Koudelka, Jacqueline M Horn, Chinnavuth Vatanashevanopakorn, Liliana Minichiello

Neural Dev. 2014; 9: 21. Published online 2014 Sep 26. doi: 10.1186/1749-8104-9-21

PMCID:: PMC4178162

Abstract Article PDF–3.0M

Select item 40979985.

Loss of Ntrk2/Kiss1r Signaling in Oocytes Causes Premature Ovarian Failure

Mauricio D. Dorfman, Cecilia Garcia-Rudaz, Zefora Alderman, Bredford Kerr, Alejandro Lomniczi, Gregory A. Dissen, Juan Manuel Castellano, David Garcia-Galiano, Francisco Gaytan, Baoji Xu, Manuel Tena-Sempere, Sergio R. Ojeda

Endocrinology. 2014 Aug; 155(8): 3098–3111. Published online 2014 May 30. doi: 10.1210/en.2014-1111

PMCID:: PMC4097998

Abstract Article

Select item 39513366.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

David T.W. Jones, Barbara Hutter, Natalie Jäger, Andrey Korshunov, Marcel Kool, Hans-Jörg Warnatz, Thomas Zichner, Sally R. Lambert, Marina Ryzhova, Dong Anh Khuong Quang, Adam M. Fontebasso, Adrian M. Stütz, Sonja Hutter, Marc Zuckermann, Dominik Sturm, Jan Gronych, Bärbel Lasitschka, Sabine Schmidt, Huriye Seker-Cin, Hendrik Witt, Marc Sultan, Meryem Ralser, Paul A. Northcott, Volker Hovestadt, Sebastian Bender, Elke Pfaff, Sebastian Stark, Damien Faury, Jeremy Schwartzentruber, Jacek Majewski, Ursula D. Weber, Marc Zapatka, Benjamin Raeder, Matthias Schlesner, Catherine L. Worth, Cynthia C. Bartholomae, Christof von Kalle, Charles D. Imbusch, Sylwester Radomski, Chris Lawerenz, Peter van Sluis, Jan Koster, Richard Volckmann, Rogier Versteeg, Hans Lehrach, Camelia Monoranu, Beate Winkler, Andreas Unterberg, Christel Herold-Mende, Till Milde, Andreas E. Kulozik, Martin Ebinger, Martin U. Schuhmann, Yoon-Jae Cho, Scott L. Pomeroy, Andreas von Deimling, Olaf Witt, Michael D. Taylor, Stephan Wolf, Matthias A. Karajannis, Charles G. Eberhart, Wolfram Scheurlen, Martin Hasselblatt, Keith L. Ligon, Mark W. Kieran, Jan O. Korbel, Marie-Laure Yaspo, Benedikt Brors, Jörg Felsberg, Guido Reifenberger, V. Peter Collins, Nada Jabado, Roland Eils, Peter Lichter, Stefan M. Pfister

Nat Genet. Author manuscript; available in PMC 2014 Mar 12.

Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 927–932. Published online 2013 Jun 30. doi: 10.1038/ng.2682

PMCID:: PMC3951336

Abstract Article PDF–1.0M

Select item 30112297.

Cell Type Specific Loss of BDNF Signaling Mimics Optogenetic Control of Cocaine Reward

Mary Kay Lobo, Herbert E. Covington, III, Dipesh Chaudhury, Allyson K. Friedman, HaoSheng Sun, Diane Damez-Werno, David Dietz, Samir Zaman, Ja Wook Koo, Pamela J. Kennedy, Ezekiell Mouzon, Murtaza Mogri, Rachael L. Neve, Karl Deisseroth, Ming-Hu Han, Eric J. Nestler

Science. Author manuscript; available in PMC 2011 Apr 15.

Published in final edited form as: Science. 2010 Oct 15; 330(6002): 385–390. doi: 10.1126/science.1188472

PMCID:: PMC3011229

Abstract Article PDF–2.6M

Select item 27582268.

TrkB receptor signaling is required for establishment of GABAergic synapses in the cerebellum

Beatriz Rico, Baoji Xu, Louis F. Reichardt

Nat Neurosci. Author manuscript; available in PMC 2009 Oct 6.

Published in final edited form as: Nat Neurosci. 2002 Mar; 5(3): 225–233. doi: 10.1038/nn808

PMCID:: PMC2758226

Abstract Article PDF–5.0M

Select item 27101009.

Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor

Baoji Xu, Evan H Goulding, Keling Zang, David Cepoi, Roger D Cone, Kevin R Jones, Laurence H Tecott, Louis F Reichardt

Nat Neurosci. Author manuscript; available in PMC 2009 Jul 14.

Published in final edited form as: Nat Neurosci. 2003 Jul; 6(7): 736–742. doi: 10.1038/nn1073

PMCID:: PMC2710100

Abstract Article PDF–4.7M

Select item 132319510.

Endocannabinoids regulate interneuron migration and morphogenesis by transactivating the TrkB receptor

Paul Berghuis, Marton B. Dobszay, Xinyu Wang, Sabrina Spano, Fernanda Ledda, Kyle M. Sousa, Gunnar Schulte, Patrik Ernfors, Ken Mackie, Gustavo Paratcha, Yasmin L. Hurd, Tibor Harkany

Proc Natl Acad Sci U S A. 2005 Dec 27; 102(52): 19115–19120. Published online 2005 Dec 15. doi: 10.1073/pnas.0509494102

PMCID:: PMC1323195

Abstract Article PDF–667K

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