PMC Links for Nucleotide (Select 1653960521) - 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 55910292.

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen

Am J Hum Genet. 2017 Sep 7; 101(3): 478–484. Published online 2017 Aug 31. doi: 10.1016/j.ajhg.2017.08.004

PMCID:: PMC5591029

Abstract Article PDF–785K

Select item 45145433.

Generation of BAF53b-Cre Transgenic Mice with Pan-Neuronal Cre Activities

Xiaoming Zhan, Mou Cao, Andrew S. Yoo, Zilai Zhang, Lei Chen, Gerald R. Crabtree, Jiang I. Wu

Genesis. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Genesis. 2015 Jul; 53(7): 440–448. Published online 2015 Jun 23. doi: 10.1002/dvg.22866

PMCID:: PMC4514543

Abstract Article PDF–1.4M

Select item 3107884.

Large-Scale Sequencing of Two Regions in Human Chromosome 7q22: Analysis of 650 kb of Genomic Sequence around the EPO and CUTL1 Loci Reveals 17 Genes

Gernot Glöckner, Stephen Scherer, Ruben Schattevoy, Andrew Boright, Jacqueline Weber, Lap-Chee Tsui, André Rosenthal

Genome Res. 1998 Oct; 8(10): 1060–1073. doi: 10.1101/gr.8.10.1060

PMCID:: PMC310788

Abstract Article PDF–3.7M

Select item 53126425.

DNA methylation data for identification of epigenetic targets of resveratrol in triple negative breast cancer cells

Rubiceli Medina-Aguilar, Carlos Pérez-Plasencia, Patricio Gariglio, Laurence A. Marchat, Ali Flores-Pérez, César López-Camarillo, Jaime García Mena

Data Brief. 2017 Apr; 11: 169–182. Published online 2017 Feb 9. doi: 10.1016/j.dib.2017.02.006

PMCID:: PMC5312642

Abstract Article PDF–431K

Select item 48240126.

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

Ender Karaca, Tamar Harel, Davut Pehlivan, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban Akdemir, Claudia Gonzaga-Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Isikay, Gozde Yesil, Ozge O. Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Hatip Aydin, Tulay Tos, Ayse Aksoy, Darryl C. De Vivo, Preti Jain, B. Bilge Geckinli, Ozlem Sezer, Davut Gul, Burak Durmaz, Ozgur Cogulu, Ferda Ozkinay, Vehap Topcu, Sukru Candan, Alper Han Cebi, Mevlit Ikbal, Elif Yilmaz Gulec, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coskun, Salih Cicek, Kadri Karaer, Asuman Koparir, Mehmet Bugrahan Duz, Emre Kirat, Elif Fenercioglu, Hakan Ulucan, Mehmet Seven, Tulay Guran, Nursel Elcioglu, Mahmut Selman Yildirim, Dilek Aktas, Mehmet Alikaşifoğlu, Mehmet Ture, Tahsin Yakut, John D. Overton, Adnan Yuksel, Mustafa Ozen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R Lupski

Neuron. Author manuscript; available in PMC 2016 Nov 4.

Published in final edited form as: Neuron. 2015 Nov 4; 88(3): 499–513. doi: 10.1016/j.neuron.2015.09.048

PMCID:: PMC4824012

Abstract Article PDF–3.2M

Select item 39473897.

Microarray Analysis Identifies Changes in Inflammatory Gene Expression in Response to Amyloid-β Stimulation of Cultured Human Retinal Pigment Epithelial Cells

Khaliq H. Kurji, Jing Z. Cui, Tony Lin, David Harriman, Shiv S. Prasad, Ljuba Kojic, Joanne A. Matsubara

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2014 Mar 9.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2010 Feb; 51(2): 1151–1163. Published online 2009 Sep 24. doi: 10.1167/iovs.09-3622

PMCID:: PMC3947389

Abstract Article PDF–1.2M

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