PMC Links for OMIM (Select 607340) - PMC

Select item 80208351.

Structural basis of the activation of a metabotropic GABA receptor

Hamidreza Shaye, Andrii Ishchenko, Jordy Homing Lam, Gye Won Han, Li Xue, Philippe Rondard, Jean-Philippe Pin, Vsevolod Katritch, Cornelius Gati, Vadim Cherezov

Nature. Author manuscript; available in PMC 2021 Apr 5.

Published in final edited form as: Nature. 2020 Aug; 584(7820): 298–303. Published online 2020 Jun 17. doi: 10.1038/s41586-020-2408-4

PMCID:: PMC8020835

Abstract Article PDF–2.7M

Select item 77252812.

Structure of human GABA_B receptor in an inactive state

Jinseo Park, Ziao Fu, Aurel Frangaj, Jonathan Liu, Lidia Mosyak, Tong Shen, Vesna N. Slavkovich, Kimberly M. Ray, Jaume Taura, Baohua Cao, Yong Geng, Hao Zuo, Yongjun Kou, Robert Grassucci, Shaoxia Chen, Zheng Liu, Xin Lin, Justin P. Williams, William J. Rice, Edward T. Eng, Rick K. Huang, Rajesh K. Soni, Brian Kloss, Zhiheng Yu, Jonathan A. Javitch, Wayne A. Hendrickson, Paul A. Slesinger, Matthias Quick, Joseph Graziano, Hongtao Yu, Oliver Fiehn, Oliver B. Clarke, Joachim Frank, Qing R. Fan

Nature. Author manuscript; available in PMC 2020 Dec 24.

Published in final edited form as: Nature. 2020 Aug; 584(7820): 304–309. Published online 2020 Jun 24. doi: 10.1038/s41586-020-2452-0

Correction in:: Nature. 2020 Jul; 583(7818): E29.

PMCID:: PMC7725281

Abstract Article PDF–5.3M

Select item 74293643.

Structures of metabotropic GABA_B receptor

Makaía M. Papasergi-Scott, Michael J. Robertson, Alpay B. Seven, Ouliana Panova, Jesper M. Mathiesen, Georgios Skiniotis

Nature. Author manuscript; available in PMC 2020 Dec 24.

Published in final edited form as: Nature. 2020 Aug; 584(7820): 310–314. Published online 2020 Jun 24. doi: 10.1038/s41586-020-2469-4

PMCID:: PMC7429364

Abstract Article PDF–6.1M

Select item 56736044.

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