PMC Links for Gene (Select 3747) - PMC

Select item 94531991.

Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G

Sumei Wang, Yejing Yu, Xu Wang, Xiaolong Deng, Jiehui Ma, Zhisheng Liu, Weiyue Gu, Dan Sun

Front Mol Neurosci. 2022; 15: 950255. Published online 2022 Aug 25. doi: 10.3389/fnmol.2022.950255

PMCID:: PMC9453199

Article PDF–2.1M

Select item 91620462.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger, Ulrike B.S. Hedrich, Paul B. Augustijn, Hartmut Baier, Allan Bayat, Francesca Bisulli, Russell J. Buono, Ben Zeev Bruria, Michael G. Doyle, Renzo Guerrini, Gali Heimer, Michele Iacomino, Hugh Kearney, Karl Martin Klein, Ioanna Kousiappa, Wolfram S. Kunz, Holger Lerche, Laura Licchetta, Ebba Lohmann, Raffaella Minardi, Marie McDonald, Sarah Montgomery, Lejla Mulahasanovic, Renske Oegema, Barel Ortal, Savvas S. Papacostas, Francesca Ragona, Tiziana Granata, Phillip S. Reif, Felix Rosenow, Annick Rothschild, Paolo Scudieri, Pasquale Striano, Paolo Tinuper, George A. Tanteles, Annalisa Vetro, Felix Zahnert, Ethan M. Goldberg, Federico Zara, Dennis Lal, Patrick May, Hiltrud Muhle, Ingo Helbig, Yvonne Weber

Neurology. 2022 May 17; 98(20): e2046–e2059. doi: 10.1212/WNL.0000000000200660

PMCID:: PMC9162046

Article PDF–638K

Select item 50220123.

An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population

Joo-Yeon Hwang, Hyo Jung Lee, Min Jin Go, Han Byul Jang, Sang Ick Park, Bong-Jo Kim, Hye-Ja Lee

Sci Rep. 2016; 6: 33043. Published online 2016 Sep 14. doi: 10.1038/srep33043

PMCID:: PMC5022012

Article PDF–1.4M

Select item 71089624.

Mechanisms underlying the hyperexcitability of CA3 and dentate gyrus hippocampal neurons derived from bipolar disorder patients.

Shani Stern, Anindita Sarkar, Tchelet Stern, Arianna Mei, Ana P. D. Mendes, Yam Stern, Gabriela Goldberg, Dekel Galor, Thao Nguyen, Lynne Randolph-Moore, Yongsung Kim, Guy Rouleau, Anne Bang, Martin Alda, Renata Santos, Maria C. Marchetto, Fred H. Gage

Biol Psychiatry. Author manuscript; available in PMC 2021 Jul 15.

Published in final edited form as: Biol Psychiatry. 2020 Jul 15; 88(2): 139–149. Published online 2019 Oct 1. doi: 10.1016/j.biopsych.2019.09.018

PMCID:: PMC7108962

Article PDF–1.9M

Select item 26991025.

Control of voltage-gated K⁺ channel permeability to NMDG⁺ by a residue at the outer pore

Zhuren Wang, Nathan C. Wong, Yvonne Cheng, Steven J. Kehl, David Fedida

J Gen Physiol. 2009 Apr; 133(4): 361–374. doi: 10.1085/jgp.200810139

PMCID:: PMC2699102

Article PDF–993K

Select item 67408136.

Kv3.1b Is a Novel Component of CNS Nodes

Jérôme Devaux, Gisèle Alcaraz, Judith Grinspan, Vann Bennett, Rolf Joho, Marcel Crest, Steven S. Scherer

J Neurosci. 2003 Jun 1; 23(11): 4509–4518. doi: 10.1523/JNEUROSCI.23-11-04509.2003

PMCID:: PMC6740813

Article PDF–1.1M

Select item 13561297.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Article PDF–438K

Select item 1392418.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Article PDF–118K

Select item 31780599.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Article PDF–1.0M

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