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Select item 107136151.

Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability

Marisol Sampedro-Castañeda, Lucas L. Baltussen, André T. Lopes, Yichen Qiu, Liina Sirvio, Simeon R. Mihaylov, Suzanne Claxton, Jill C. Richardson, Gabriele Lignani, Sila K. Ultanir

Nat Commun. 2023; 14: 7830. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43475-w

PMCID:: PMC10713615

Abstract Article PDF–1.8M

Select item 104998212.

Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets

Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson

Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8

PMCID:: PMC10499821

Abstract Article PDF–2.6M

Select item 85470313.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

Mol Autism. 2021; 12: 69. Published online 2021 Oct 26. doi: 10.1186/s13229-021-00473-3

PMCID:: PMC8547031

Abstract Article PDF–1.1M

Select item 73518334.

Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective

T. Schneider, F. Neumaier, J. Hescheler, S. Alpdogan

Pflugers Arch. 2020; 472(7): 811–816. Published online 2020 Jun 11. doi: 10.1007/s00424-020-02395-0

PMCID:: PMC7351833

Abstract Article PDF–837K

Select item 70012355.

F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca_v2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung

Baoyi Zhu, Zhengfu Feng, Yan Guo, Tian Zhang, Ai Mai, Zhanfang Kang, Ting Weijen, Dai Wang, Dazhong Yin, Dongxing Zhu, Jun Gao

Cell Commun Signal. 2020; 18: 19. Published online 2020 Feb 4. doi: 10.1186/s12964-020-0515-3

PMCID:: PMC7001235

Abstract Article PDF–2.2M

Select item 62161106.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xin, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Deciphering Developmental Disorders Study, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford

Am J Hum Genet. 2018 Nov 1; 103(5): 666–678. Published online 2018 Oct 18. doi: 10.1016/j.ajhg.2018.09.006

Correction in:: Am J Hum Genet. 2019 Mar 7; 104(3): 562.

PMCID:: PMC6216110

Abstract Article PDF–1.2M

Select item 61666827.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 53799198.

Evolutionary insights into T-type Ca²⁺ channel structure, function, and ion selectivity from the Trichoplax adhaerens homologue

Carolyn L. Smith, Salsabil Abdallah, Yuen Yan Wong, Phuong Le, Alicia N. Harracksingh, Liana Artinian, Arianna N. Tamvacakis, Vincent Rehder, Thomas S. Reese, Adriano Senatore

J Gen Physiol. 2017 Apr 3; 149(4): 483–510. doi: 10.1085/jgp.201611683

PMCID:: PMC5379919

Abstract Article PDF–3.4M

Select item 37340609.

Association between Genetic Polymorphisms in Ca_v2.3 (R-type) Ca²⁺ Channels and Fentanyl Sensitivity in Patients Undergoing Painful Cosmetic Surgery

Soichiro Ide, Daisuke Nishizawa, Ken-ichi Fukuda, Shinya Kasai, Junko Hasegawa, Masakazu Hayashida, Masabumi Minami, Kazutaka Ikeda

PLoS One. 2013; 8(8): e70694. Published online 2013 Aug 5. doi: 10.1371/journal.pone.0070694

Expression of Concern in:: PLoS One. 2023; 18(1): e0278809.

PMCID:: PMC3734060

Abstract Article PDF–462K

Select item 373359510.

Genetics of coronary artery calcification among African Americans, a meta-analysis

Mary K Wojczynski, Mingyao Li, Lawrence F Bielak, Kathleen F Kerr, Alex P Reiner, Nathan D Wong, Lisa R Yanek, Liming Qu, Charles C White, Leslie A Lange, Jane F Ferguson, Jing He, Taylor Young, Thomas H Mosley, Jennifer A Smith, Brian G Kral, Xiuqing Guo, Quenna Wong, Santhi K Ganesh, Susan R Heckbert, Michael E Griswold, Daniel H O’Leary, Matthew Budoff, J Jeffrey Carr, Herman A Taylor,, Jr., David A Bluemke, Serkalem Demissie, Shih-Jen Hwang, Dina N Paltoo, Joseph F Polak, Bruce M Psaty, Diane M Becker, Michael A Province, Wendy S Post, Christopher J O’Donnell, James G Wilson, Tamara B Harris, Maryam Kavousi, L Adrienne Cupples, Jerome I Rotter, Myriam Fornage, Lewis C Becker, Patricia A Peyser, Ingrid B Borecki, Muredach P Reilly

BMC Med Genet. 2013; 14: 75. Published online 2013 Jul 19. doi: 10.1186/1471-2350-14-75

PMCID:: PMC3733595

Abstract Article PDF–884K

Select item 356108411.

Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers

Gordan Lauc, Jennifer E. Huffman, Maja Pučić, Lina Zgaga, Barbara Adamczyk, Ana Mužinić, Mislav Novokmet, Ozren Polašek, Olga Gornik, Jasminka Krištić, Toma Keser, Veronique Vitart, Blanca Scheijen, Hae-Won Uh, Mariam Molokhia, Alan Leslie Patrick, Paul McKeigue, Ivana Kolčić, Ivan Krešimir Lukić, Olivia Swann, Frank N. van Leeuwen, L. Renee Ruhaak, Jeanine J. Houwing-Duistermaat, P. Eline Slagboom, Marian Beekman, Anton J. M. de Craen, André M. Deelder, Qiang Zeng, Wei Wang, Nicholas D. Hastie, Ulf Gyllensten, James F. Wilson, Manfred Wuhrer, Alan F. Wright, Pauline M. Rudd, Caroline Hayward, Yurii Aulchenko, Harry Campbell, Igor Rudan

PLoS Genet. 2013 Jan; 9(1): e1003225. Published online 2013 Jan 31. doi: 10.1371/journal.pgen.1003225

PMCID:: PMC3561084

Abstract Article PDF–1.0M

Select item 346329712.

A Quartet of Leucine Residues in the Guanylate Kinase Domain of Ca_Vβ Determines the Plasma Membrane Density of the Ca_V2.3 Channel

Behzad Shakeri, Benoîte Bourdin, Pierre-Olivier Demers-Giroux, Rémy Sauvé, Lucie Parent

J Biol Chem. 2012 Sep 21; 287(39): 32835–32847. Published online 2012 Jul 30. doi: 10.1074/jbc.M112.387233

PMCID:: PMC3463297

Abstract Article PDF–6.0M

Select item 330289213.

CACNA1E Variants Affect Beta Cell Function in Patients with Newly Diagnosed Type 2 Diabetes. The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 3

Maddalena Trombetta, Sara Bonetti, MariaLinda Boselli, Fabiola Turrini, Giovanni Malerba, Elisabetta Trabetti, PierFranco Pignatti, Enzo Bonora, Riccardo C. Bonadonna

PLoS One. 2012; 7(3): e32755. Published online 2012 Mar 9. doi: 10.1371/journal.pone.0032755

PMCID:: PMC3302892

Abstract Article PDF–301K

Select item 317805914.

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

Abstract Article PDF–1.0M

Select item 289646415.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 256652316.

A high-density association screen of 155 ion transport genes for involvement with common migraine

Dale R. Nyholt, K. Steven LaForge, Mikko Kallela, Kirsi Alakurtti, Verneri Anttila, Markus Färkkilä, Eija Hämaläinen, Jaakko Kaprio, Mari A. Kaunisto, Andrew C. Heath, Grant W. Montgomery, Hartmut Göbel, Unda Todt, Michel D. Ferrari, Lenore J. Launer, Rune R. Frants, Gisela M. Terwindt, Boukje de Vries, W.M. Monique Verschuren, Jan Brand, Tobias Freilinger, Volker Pfaffenrath, Andreas Straube, Dennis G. Ballinger, Yiping Zhan, Mark J. Daly, David R. Cox, Martin Dichgans, Arn M.J.M. van den Maagdenberg, Christian Kubisch, Nicholas G. Martin, Maija Wessman, Leena Peltonen, Aarno Palotie

Hum Mol Genet. 2008 Nov 1; 17(21): 3318–3331. Published online 2008 Aug 2. doi: 10.1093/hmg/ddn227