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Items: 1 to 20 of 24

1.
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
AbstractArticlePDF–974K
2.
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
AbstractArticlePDF–1.7M
3.
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
AbstractArticlePDF–1.5M
4.
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
AbstractArticlePDF–7.8M
5.
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
AbstractArticlePDF–2.2M
6.
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
AbstractArticlePDF–459K
7.
Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 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
AbstractArticlePDF–5.6M
8.
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
AbstractArticlePDF–577K
9.
Calmodulin regulates Cav3 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
AbstractArticlePDF–4.2M
10.
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
AbstractArticlePDF–2.7M
11.
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
AbstractArticlePDF–499K
12.
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
AbstractArticlePDF–3.4M
13.
A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 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
AbstractArticlePDF–1.8M
14.
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
ArticlePDF–400K
15.
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
AbstractArticlePDF–3.0M
16.
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
AbstractArticlePDF–1.0M
17.
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
AbstractArticlePDF–513K
18.
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
AbstractArticlePDF–1.0M
19.
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
AbstractArticlePDF–1.4M
20.
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
AbstractArticlePDF–1.0M

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