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Select item 111038721.

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Ruohao Wu, Xiaojuan Li, Zhe Meng, Pinggan Li, Zhanwen He, Liyang Liang

Orphanet J Rare Dis. 2024; 19: 205. Published online 2024 May 19. doi: 10.1186/s13023-024-03214-w

PMCID:: PMC11103872

Abstract Article PDF–2.9M

Select item 98856842.

14-3-3 proteins regulate cullin 7-mediated Eag1 degradation

Chang-Heng Hsieh, Chia-Cheng Chou, Ya-Ching Fang, Po-Hao Hsu, Yi-Hung Chiu, Chi-Sheng Yang, Guey-Mei Jow, Chih-Yung Tang, Chung-Jiuan Jeng

Cell Biosci. 2023; 13: 18. Published online 2023 Jan 30. doi: 10.1186/s13578-023-00969-w

PMCID:: PMC9885684

Abstract Article PDF–7.0M

Select item 98040833.

Phenotypic expansion of KCNH1‐associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub‐regional locations

Mao‐Qiang Tian, Ren‐Ke Li, Fan Yang, Xiao‐Mei Shu, Juan Li, Jing Chen, Long‐Ying Peng, Xiao‐Hua Yu, Chang‐Jian Yang

CNS Neurosci Ther. 2023 Jan; 29(1): 270–281. Published online 2022 Oct 25. doi: 10.1111/cns.14001

PMCID:: PMC9804083

Abstract Article PDF–10M

Select item 93633904.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia, Massimo Carella, Tommaso Mazza, Antonio Pizzuti, Chiara Parisi, Viviana Caputo

Mol Neurobiol. 2022; 59(8): 4825–4838. Published online 2022 May 31. doi: 10.1007/s12035-022-02886-4

PMCID:: PMC9363390

Abstract Article PDF–3.6M

Select item 89939165.

Hysteretic hERG channel gating current recorded at physiological temperature

David K. Jones

Sci Rep. 2022; 12: 5950. Published online 2022 Apr 8. doi: 10.1038/s41598-022-10003-7

PMCID:: PMC8993916

Abstract Article PDF–5.3M

Select item 88970226.

Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy

Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang

Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003

PMCID:: PMC8897022

Abstract Article PDF–3.0M

Select item 84596137.

Recent ultra-rare inherited variants implicate novel autism candidate risk genes

Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P. Coe, Hui Guo, Kendra Hoekzema, Trygve E. Bakken, Lara H. Winterkorn, Uday S. Evani, Marta Byrska-Bishop, Rachel K. Earl, Raphael A. Bernier, The SPARK Consortium, Michael C. Zody, Evan E. Eichler

Nat Genet. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Nat Genet. 2021 Aug; 53(8): 1125–1134. Published online 2021 Jul 26. doi: 10.1038/s41588-021-00899-8

PMCID:: PMC8459613

Abstract Article PDF–1.3M

Select item 84406108.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K⁺ channelopathies

Karen W. Gripp, Sarah F. Smithson, Ingrid J. Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E. H. Simon, Ellen van Binsbergen, Mary Beth P. Dinulos, Julie D. Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche

Eur J Hum Genet. 2021 Sep; 29(9): 1384–1395. Published online 2021 Feb 16. doi: 10.1038/s41431-021-00818-9

PMCID:: PMC8440610

Abstract Article PDF–1.8M

Select item 83964859.

Molecular Dynamics-Derived Pharmacophore Model Explaining the Nonselective Aspect of K_V10.1 Pore Blockers

Žan Toplak, Franci Merzel, Luis A. Pardo, Lucija Peterlin Mašič, Tihomir Tomašič

Int J Mol Sci. 2021 Aug; 22(16): 8999. Published online 2021 Aug 20. doi: 10.3390/ijms22168999

PMCID:: PMC8396485

Abstract Article PDF–10M

Select item 803972210.

Identification of MKRN1 as a second E3 ligase for Eag1 potassium channels reveals regulation via differential degradation

Ya-Ching Fang, Ssu-Ju Fu, Po-Hao Hsu, Pei-Tzu Chang, Jing-Jia Huang, Yi-Chih Chiu, Yi-Fan Liao, Guey-Mei Jow, Chih-Yung Tang, Chung-Jiuan Jeng

J Biol Chem. 2021 Jan-Jun; 296: 100484. Published online 2021 Feb 27. doi: 10.1016/j.jbc.2021.100484

PMCID:: PMC8039722

Abstract Article PDF–4.0M

Select item 790978511.

Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases

Randi von Wrede, Monika Jeub, Idil Ariöz, Christian E. Elger, Hubertus von Voss, Hanns-Georg Klein, Albert J. Becker, Susanne Schoch, Rainer Surges, Wolfram S. Kunz

Genes (Basel) 2021 Feb; 12(2): 132. Published online 2021 Jan 21. doi: 10.3390/genes12020132

PMCID:: PMC7909785

Abstract Article PDF–2.0M

Select item 760600812.

BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A

Chun‐guo Mao, Sha‐sha Jiang, Cheng Shen, Tan Long, Hua Jin, Qun‐You Tan, Bo Deng

Thorac Cancer. 2020 Nov; 11(11): 3326–3336. Published online 2020 Oct 1. doi: 10.1111/1759-7714.13676

PMCID:: PMC7606008

Abstract Article PDF–2.5M

Select item 749543013.

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

Costin Leu, Jocelyn F. Bautista, Monica Sudarsanam, Lisa-Marie Niestroj, Arthur Stefanski, Lisa Ferguson, Mark J. Daly, Lara Jehi, Imad M. Najm, Robyn M. Busch, Dennis Lal

Sci Rep. 2020; 10: 15205. Published online 2020 Sep 16. doi: 10.1038/s41598-020-72101-8

PMCID:: PMC7495430

Abstract Article PDF–1.9M

Select item 707459014.

Eag1 Gene and Protein Expression in Human Retinoblastoma Tumors and Its Regulation by pRb in HeLa Cells

María de Guadalupe Chávez-López, Violeta Zúñiga-García, Blanca Elena Castro-Magdonel, Eunice Vera, Efraín Garrido, Janet Sánchez-Ramos, M. Verónica Ponce-Castañeda, M. de Lourdes Cabrera-Muñoz, Yesenia Escobar, Cindy Sharon Ortiz, Elisabeth Hernández-Gallegos, Arturo Avalos-Fuentes, Javier Camacho

Genes (Basel) 2020 Feb; 11(2): 119. Published online 2020 Jan 21. doi: 10.3390/genes11020119

PMCID:: PMC7074590

Abstract Article PDF–2.0M

Select item 655584515.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

Nat Commun. 2019; 10: 2506. Published online 2019 Jun 7. doi: 10.1038/s41467-019-10482-9

PMCID:: PMC6555845

Abstract Article PDF–1.5M

Select item 653129116.

Dynamics of the EAG1 K⁺ channel selectivity filter assessed by molecular dynamics simulations

Harald Bernsteiner, Michael Bründl, Anna Stary-Weinzinger

Biochem Biophys Res Commun. Author manuscript; available in PMC 2019 May 23.

Published in final edited form as: Biochem Biophys Res Commun. 2017 Feb 26; 484(1): 107–112. Published online 2017 Jan 19. doi: 10.1016/j.bbrc.2017.01.064

PMCID:: PMC6531291

Abstract Article PDF–1.4M

Select item 582692617.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 569661818.

Screening for Non-Pore Binding Modulators of EAG K⁺ Channels

Andreia S. Fernandes, João H. Morais-Cabral, Carol A. Harley

J Biomol Screen. Author manuscript; available in PMC 2017 Nov 21.

Published in final edited form as: J Biomol Screen. 2016 Aug; 21(7): 758–765. Published online 2016 Mar 14. doi: 10.1177/1087057116636592

PMCID:: PMC5696618

Abstract Article PDF–583K

Select item 536498319.

The involvement of Eag1 potassium channels and miR-34a in rotenone-induced death of dopaminergic SH-SY5Y cells

Camila Hillesheim Horst, Ricardo Titze-De-Almeida, Simoneide Souza Titze-De-Almeida

Mol Med Rep. 2017 Apr; 15(4): 1479–1488. Published online 2017 Feb 10. doi: 10.3892/mmr.2017.6191

PMCID:: PMC5364983

Abstract Article PDF–1.6M

Select item 534151320.

Cyclic expression of the voltage‐gated potassium channel K_V10.1 promotes disassembly of the primary cilium

Araceli Sánchez, Diana Urrego, Luis A Pardo

EMBO Rep. 2016 May; 17(5): 708–723. Published online 2016 Apr 21. doi: 10.15252/embr.201541082

PMCID:: PMC5341513

Abstract Article PDF–3.9M

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