PMC Links for Gene (Select 288563) - PMC

Select item 65070501.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul-Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup, Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin C. Herman, Joshua L. Deignan, Walla Al-Hertani, Stephanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge, Maria Hafström, Emily Fassi, Henry Houlden, Jolien S. Klein Wassink-Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien van Gils, Thomas Bourgeron, Richard Delorme, Gregory M. Cooper, Jose E. Martinez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen van Gassen, Sarju G. Mehta, Dagmar Huhle, Rami Abou Jamra, Sonja Martin, Han G. Brunner, Dick Lindhout, Margaret Au, John M. Graham, Jr., Christine Coubes, Gustavo Turecki, Simon Gravel, Naguib Mechawar, Elsa Rossignol, Jacques L. Michaud, Julie Lessard, Carl Ernst, Philippe M. Campeau

Am J Hum Genet. 2019 May 2; 104(5): 815–834. Published online 2019 Apr 25. doi: 10.1016/j.ajhg.2019.03.022

PMCID:: PMC6507050

Abstract Article PDF–4.6M

Select item 35529542.

The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

A. Hunter Shain, Jonathan R. Pollack

PLoS One. 2013; 8(1): e55119. Published online 2013 Jan 23. doi: 10.1371/journal.pone.0055119

PMCID:: PMC3552954

Abstract Article PDF–361K

Select item 36858343.

Kinetic Analysis of npBAF to nBAF Switching Reveals Exchange of SS18 with CREST and Integration with Neural Developmental Pathways

Brett T. Staahl, Jiong Tang, Wei Wu, Alfred Sun, Aaron D. Gitler, Andrew S. Yoo, Gerald R. Crabtree

J Neurosci. 2013 Jun 19; 33(25): 10348–10361. doi: 10.1523/JNEUROSCI.1258-13.2013

PMCID:: PMC3685834

Abstract Article PDF–3.6M

Select item 26741104.

An Essential Switch in Subunit Composition of a Chromatin Remodeling Complex during Neural Development

Julie Lessard, Jiang I. Wu, Jeffrey A. Ranish, Mimi Wan, Monte M. Winslow, Brett T. Staahl, Hai Wu, Ruedi Aebersold, Isabella A. Graef, Gerald R. Crabtree

Neuron. Author manuscript; available in PMC 2009 Apr 27.

Published in final edited form as: Neuron. 2007 Jul 19; 55(2): 201–215. doi: 10.1016/j.neuron.2007.06.019