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Select item 101226271.

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes

Neven Maksemous, Aster V. E. Harder, Omar Ibrahim, Lisanne S. Vijfhuizen, Heidi Sutherland, Nadine Pelzer, Irene de Boer, Gisela M. Terwindt, Rodney A. Lea, Arn M. J. M. van den Maagdenberg, Lyn R. Griffiths

Mol Neurobiol. 2023; 60(6): 3034–3043. Published online 2023 Feb 14. doi: 10.1007/s12035-023-03255-5

PMCID:: PMC10122627

Abstract Article PDF–974K

Select item 91665712.

Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort

David Baez-Nieto, Andrew Allen, Seth Akers-Campbell, Lingling Yang, Nikita Budnik, Amaury Pupo, Young-Cheul Shin, Giulio Genovese, Maofu Liao, Eduardo Pérez-Palma, Henrike Heyne, Dennis Lal, Diane Lipscombe, Jen Q. Pan

Brain. 2022 May; 145(5): 1839–1853. Published online 2021 Dec 17. doi: 10.1093/brain/awab443

PMCID:: PMC9166571

Abstract Article PDF–1.7M

Select item 84223493.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

Yousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, Stefanie M Geisler, Simone Pelizzari, Abeltje M Polstra, Johanna M van Hagen, Jonas Denecke, Marta Campiglio, Klaus R Liedl, Cathy A Stevens, Richard E Person, Stefan Rentas, Eric D Marsh, Laura K Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E Flucher

Brain. 2021 Jul; 144(7): 2092–2106. Published online 2021 Mar 11. doi: 10.1093/brain/awab101

PMCID:: PMC8422349

Abstract Article PDF–1.5M

Select item 67781374.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 64358205.

Genome-Wide Association Studies of Impulsive Personality Traits (BIS-11 and UPPS-P) and Drug Experimentation in up to 22,861 Adult Research Participants Identify Loci in the CACNA1I and CADM2 genes

Sandra Sanchez-Roige, Pierre Fontanillas, Sarah L. Elson, Joshua C. Gray, Harriet de Wit, James MacKillop, Abraham A. Palmer

J Neurosci. 2019 Mar 27; 39(13): 2562–2572. doi: 10.1523/JNEUROSCI.2662-18.2019

PMCID:: PMC6435820

Abstract Article PDF–2.2M

Select item 61713406.

Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy

Tracy A. Glauser, Katherine Holland, Valerie P. O’Brien, Mehdi Keddache, Lisa J. Martin, Peggy O. Clark, Avital Cnaan, Dennis Dlugos, Deborah G Hirtz, Shlomo Shinnar, Gregory Grabowski

Ann Neurol. Author manuscript; available in PMC 2018 Oct 4.

Published in final edited form as: Ann Neurol. 2017 Mar; 81(3): 444–453. doi: 10.1002/ana.24886

PMCID:: PMC6171340

Abstract Article PDF–459K

Select item 58251447.

Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type Ca_V3.3 channels

Ana Laura Sanchez-Sandoval, Zazil Herrera Carrillo, Clara Estela Díaz Velásquez, Dulce María Delgadillo, Heriberto Manuel Rivera, Juan Carlos Gomora

PLoS One. 2018; 13(2): e0193490. Published online 2018 Feb 23. doi: 10.1371/journal.pone.0193490

PMCID:: PMC5825144

Abstract Article PDF–5.6M

Select item 57490098.

Further evidence for the genetic association between CACNA1I and schizophrenia

Yijun Xie, Di Huang, Li Wei, Xiong-Jian Luo

Hereditas. 2018; 155: 16. Published online 2018 Jan 2. doi: 10.1186/s41065-017-0054-0

PMCID:: PMC5749009

Abstract Article PDF–577K

Select item 57239909.

Calmodulin regulates Ca_v3 T-type channels at their gating brake

Jean Chemin, Valentina Taiakina, Arnaud Monteil, Michael Piazza, Wendy Guan, Robert F. Stephens, Ashraf Kitmitto, Zhiping P. Pang, Annette C. Dolphin, Edward Perez-Reyes, Thorsten Dieckmann, Joseph Guy Guillemette, J. David Spafford

J Biol Chem. 2017 Dec 8; 292(49): 20010–20031. Published online 2017 Sep 25. doi: 10.1074/jbc.M117.807925

PMCID:: PMC5723990

Abstract Article PDF–4.2M

Select item 557320410.

Prognostic relevance of a T-type calcium channels gene signature in solid tumours: A correlation ready for clinical validation

Lorenzo Fornaro, Caterina Vivaldi, Dong Lin, Hui Xue, Alfredo Falcone, Yuzhuo Wang, Francesco Crea, Martin D. Bootman

PLoS One. 2017; 12(8): e0182818. Published online 2017 Aug 28. doi: 10.1371/journal.pone.0182818

PMCID:: PMC5573204

Abstract Article PDF–2.7M

Select item 551303511.

Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population

Wei Xu, Yahui Liu, Jianhua Chen, Qingli Guo, Ke Liu, Zujia Wen, Zhaowei Zhou, Zhijian Song, Juan Zhou, Lin He, Qizhong Yi, Yongyong Shi

Hereditas. 2018; 155: 5. Published online 2017 Jul 17. doi: 10.1186/s41065-017-0037-1

PMCID:: PMC5513035

Abstract Article PDF–499K

Select item 537991912.

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 506946413.

A rare schizophrenia risk variant of CACNA1I disrupts Ca_V3.3 channel activity

A. Andrade, J. Hope, A. Allen, V. Yorgan, D. Lipscombe, J. Q. Pan

Sci Rep. 2016; 6: 34233. Published online 2016 Oct 19. doi: 10.1038/srep34233

PMCID:: PMC5069464

Abstract Article PDF–1.8M

Select item 496100714.

T-type channels: release a brake, engage a gear

Norbert Weiss, Lubica Lacinova

Channels (Austin) 2016 Mar-Apr; 10(2): 78–80. Published online 2015 Oct 21. doi: 10.1080/19336950.2015.1106655

PMCID:: PMC4961007

Article PDF–400K

Select item 448788115.

Increased extracellular pressure stimulates tumor proliferation by a mechanosensitive calcium channel and PKC‐β

Marc D. Basson, Bixi Zeng, Christina Downey, Madhu P. Sirivelu, Jetze J. Tepe

Mol Oncol. 2015 Feb; 9(2): 513–526. Published online 2014 Oct 23. doi: 10.1016/j.molonc.2014.10.008

PMCID:: PMC4487881

Abstract Article PDF–3.0M

Select item 438178316.

Ethanol inhibition of a T-type Ca²⁺channel through activity of protein kinase C

Hong Qu Shan, James A. Hammarback, Dwayne W. Godwin

Alcohol Clin Exp Res. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Alcohol Clin Exp Res. 2013 Aug; 37(8): 1333–1342. Published online 2013 Mar 12. doi: 10.1111/acer.12098

PMCID:: PMC4381783

Abstract Article PDF–1.0M

Select item 409198617.

Genome-Wide Data reveals Novel Genes for Methotrexate Response in a Large Cohort of Juvenile Idiopathic Arthritis Cases

Joanna Cobb, Erika Cule, Halima Moncrieffe, Anne Hinks, Simona Ursu, Fiona Patrick, Laura Kassoumeri, Edward Flynn, Maja Bulatovic, Nico Wulffraat, Bertrand van Zelst, Robert de Jonge, Marek Bohm, Pavla Dolezalova, Shashi Hirani, Stanton Newman, Pamela Whitworth, Taunton R Southwood, Childhood Arthritis Response to Medication Study (CHARMS), Childhood Arthritis Prospective Study (CAPS), BSPAR study group, Maria De Iorio, Lucy R Wedderburn, Wendy Thomson

Pharmacogenomics J. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Pharmacogenomics J. 2014 Aug; 14(4): 356–364. Published online 2014 Apr 8. doi: 10.1038/tpj.2014.3

PMCID:: PMC4091986

Abstract Article PDF–513K

Select item 356108418.

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 352946719.

Genome-Wide Association Study Implicates HLA-C*01: 02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia

Irish Schizophrenia Genomics Consortium and the Wellcome Trust Case Control Consortium 2

Biol Psychiatry. Author manuscript; available in PMC 2012 Dec 24.

Published in final edited form as: Biol Psychiatry. 2012 Oct 15; 72(8): 620–628. Published online 2012 Aug 9. doi: 10.1016/j.biopsych.2012.05.035

PMCID:: PMC3529467

Abstract Article PDF–1.4M

Select item 317805920.

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

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