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Select item 96704001.

Electrophysiological and computational analysis of Ca_v3.2 channel variants associated with familial trigeminal neuralgia

Emilio R. Mustafá, Eder Gambeta, Robin N. Stringer, Ivana A. Souza, Gerald W. Zamponi, Norbert Weiss

Mol Brain. 2022; 15: 91. Published online 2022 Nov 17. doi: 10.1186/s13041-022-00978-9

PMCID:: PMC9670400

Abstract Article PDF–4.4M

Select item 92181832.

A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism

Chi-Shin Tseng, Kang-Yung Peng, Shuo-Meng Wang, Yao-Chou Tsai, Kuo-How Huang, Wei-Chou Lin, Ya-Hui Hu, Vin-Cent Wu, Jeff S. Chueh

Front Endocrinol (Lausanne) 2022; 13: 816476. Published online 2022 Jun 9. doi: 10.3389/fendo.2022.816476

PMCID:: PMC9218183

Abstract Article PDF–3.6M

Select item 84511143.

Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp

Ivana A. Souza, Maria A. Gandini, Gerald W. Zamponi

Mol Brain. 2021; 14: 145. Published online 2021 Sep 20. doi: 10.1186/s13041-021-00861-z

PMCID:: PMC8451114

Abstract Article PDF–1.3M

Select item 78191794.

Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp?

Miaozhen Huang, Esther A. R. Nibbeling, Tjerk J. Lagrand, Ivana A. Souza, Justus L. Groen, Maria A. Gandini, Fang-Xiong Zhang, Johannes H. T. M. Koelman, Noam Adir, Richard J. Sinke, Gerald W. Zamponi, Marina A. J. Tijssen, Dineke S. Verbeek

Mol Brain. 2021; 14: 18. Published online 2021 Jan 21. doi: 10.1186/s13041-021-00736-3

PMCID:: PMC7819179

Abstract Article PDF–1.2M

Select item 76592345.

Functional identification of potential non-canonical N-glycosylation sites within Ca_v3.2 T-type calcium channels

Vendula Ficelova, Ivana A. Souza, Leos Cmarko, Maria A. Gandini, Robin N. Stringer, Gerald W. Zamponi, Norbert Weiss

Mol Brain. 2020; 13: 149. Published online 2020 Nov 11. doi: 10.1186/s13041-020-00697-z

PMCID:: PMC7659234

Abstract Article PDF–1.1M

Select item 73017666.

CACNA1H variants are not a cause of monogenic epilepsy.

Jeffrey D. Calhoun, Alexandra M Huffman, Irena Bellinski, Lisa Kinsley, Elizabeth Bachman, Elizabeth Gerard, Jennifer A. Kearney, Gemma L. Carvill

Hum Mutat. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Hum Mutat. 2020 Jun; 41(6): 1138–1144. Published online 2020 Apr 14. doi: 10.1002/humu.24017

PMCID:: PMC7301766

Abstract Article PDF–545K

Select item 70606407.

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca_v3.2 T-type channel activity

Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Sun Huang, Omid Haji-Ghassemi, Romane Idoux, Anna Liashenko, Ivana A. Souza, Yuriy Rzhepetskyy, Lubica Lacinova, Filip Van Petegem, Gerald W. Zamponi, Roger Pamphlett, Norbert Weiss

Mol Brain. 2020; 13: 33. Published online 2020 Mar 6. doi: 10.1186/s13041-020-00577-6

PMCID:: PMC7060640

Abstract Article PDF–2.3M

Select item 70590168.

Somatic CACNA1H mutation as a cause of aldosterone-producing adenoma

Kazutaka Nanba, Amy R. Blinder, Juilee Rege, Namita G. Hattangady, Tobias Else, Chia-Jen Liu, Scott A. Tomlins, Pankaj Vats, Chandan Kumar-Sinha, Thomas J. Giordano, William E. Rainey

Hypertension. Author manuscript; available in PMC 2021 Mar 1.

Published in final edited form as: Hypertension. 2020 Mar; 75(3): 645–649. Published online 2020 Jan 27. doi: 10.1161/HYPERTENSIONAHA.119.14349

PMCID:: PMC7059016

Abstract Article PDF–427K

Select item 67408469.

A Mechanism for the Direct Regulation of T-Type Calcium Channels by Ca²⁺/Calmodulin-Dependent Kinase II

Philip J. Welsby, Hongge Wang, Joshua T. Wolfe, Roger J. Colbran, Michael L. Johnson, Paula Q. Barrett

J Neurosci. 2003 Nov 5; 23(31): 10116–10121. doi: 10.1523/JNEUROSCI.23-31-10116.2003

PMCID:: PMC6740846

Abstract Article PDF–306K

Select item 667206510.

The I–II Loop Controls Plasma Membrane Expression and Gating of Ca_v3.2 T-Type Ca²⁺ Channels: A Paradigm for Childhood Absence Epilepsy Mutations

Iuliia Vitko, Isabelle Bidaud, Juan Manuel Arias, Alexandre Mezghrani, Philippe Lory, Edward Perez-Reyes

J Neurosci. 2007 Jan 10; 27(2): 322–330. doi: 10.1523/JNEUROSCI.1817-06.2007

PMCID:: PMC6672065

Abstract Article PDF–650K

Select item 666494911.

A Ca_v3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy

Kim L. Powell, Stuart M. Cain, Caroline Ng, Shreerang Sirdesai, Laurence S. David, Mervyn Kyi, Esperanza Garcia, John R. Tyson, Christopher A. Reid, Melanie Bahlo, Simon J. Foote, Terrance P. Snutch, Terence J. O'Brien

J Neurosci. 2009 Jan 14; 29(2): 371–380. doi: 10.1523/JNEUROSCI.5295-08.2009

PMCID:: PMC6664949

Abstract Article PDF–514K

Select item 526431412.

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

Georgios Daniil, Fabio L Fernandes-Rosa, Jean Chemin, Iulia Blesneac, Jacques Beltrand, Michel Polak, Xavier Jeunemaitre, Sheerazed Boulkroun, Laurence Amar, Tim M Strom, Philippe Lory, Maria-Christina Zennaro

EBioMedicine. 2016 Nov; 13: 225–236. Published online 2016 Oct 4. doi: 10.1016/j.ebiom.2016.10.002

PMCID:: PMC5264314

Abstract Article PDF–1.5M

Select item 495458413.

Modulation of Ca_v3.2 T-type calcium channel permeability by asparagine-linked glycosylation

Katarina Ondacova, Maria Karmazinova, Joanna Lazniewska, Norbert Weiss, Lubica Lacinova

Channels (Austin) 2016 May-Jun; 10(3): 175–184. Published online 2016 Jan 8. doi: 10.1080/19336950.2016.1138189

PMCID:: PMC4954584

Abstract Article PDF–635K

Select item 464075914.

Phosphorylation of the Cav3.2 T-type calcium channel directly regulates its gating properties

Iulia Blesneac, Jean Chemin, Isabelle Bidaud, Sylvaine Huc-Brandt, Franck Vandermoere, Philippe Lory

Proc Natl Acad Sci U S A. 2015 Nov 3; 112(44): 13705–13710. Published online 2015 Oct 19. doi: 10.1073/pnas.1511740112

PMCID:: PMC4640759

Abstract Article PDF–1.9M

Select item 452673715.

Ca_V3.2 calcium channels control NMDA receptor-mediated transmission: a new mechanism for absence epilepsy

Guangfu Wang, Genrieta Bochorishvili, Yucai Chen, Kathryn A. Salvati, Peng Zhang, Steve J. Dubel, Edward Perez-Reyes, Terrance P. Snutch, Ruth L. Stornetta, Karl Deisseroth, Alev Erisir, Slobodan M. Todorovic, Jian-Hong Luo, Jaideep Kapur, Mark P. Beenhakker, J. Julius Zhu

Genes Dev. 2015 Jul 15; 29(14): 1535–1551. doi: 10.1101/gad.260869.115

PMCID:: PMC4526737

Abstract Article PDF–607K

Select item 440844716.

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, Alfred A Vichot, Murim Choi, Erin Loring, Manju L Prasad, Gerald Goh, Tobias Carling, C Christofer Juhlin, Ivo Quack, Lars C Rump, Anne Thiel, Marc Lande, Britney G Frazier, Majid Rasoulpour, David L Bowlin, Christine B Sethna, Howard Trachtman, Christoph Fahlke, Richard P Lifton

eLife. 2015; 4: e06315. Published online 2015 Apr 24. doi: 10.7554/eLife.06315

PMCID:: PMC4408447

Abstract Article PDF–3.4M

Select item 411823517.

Epigallocatechin-3-gallate induces mesothelioma cell death via H₂O₂—dependent T-type Ca²⁺ channel opening

Elia Ranzato, Simona Martinotti, Valeria Magnelli, Bruno Murer, Stefano Biffo, Luciano Mutti, Bruno Burlando

J Cell Mol Med. 2012 Nov; 16(11): 2667–2678. Published online 2012 Oct 29. doi: 10.1111/j.1582-4934.2012.01584.x

PMCID:: PMC4118235

Abstract Article PDF–403K

Select item 393471518.

Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility

Veit-Simon Eckle, Aleksandr Shcheglovitov, Iuliia Vitko, Deblina Dey, Chan Choo Yap, Bettina Winckler, Edward Perez-Reyes

J Physiol. 2014 Feb 15; 592(Pt 4): 795–809. Published online 2014 Jan 2. doi: 10.1113/jphysiol.2013.264176

PMCID:: PMC3934715

Abstract Article PDF–768K

Select item 379523019.

Cooperative Activation of the T-type Ca_V3.2 Channel: INTERACTION BETWEEN DOMAINS II AND III

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

J Biol Chem. 2013 Oct 11; 288(41): 29281–29293. Published online 2013 Aug 22. doi: 10.1074/jbc.M113.500975

PMCID:: PMC3795230

Abstract Article PDF–4.2M

Select item 305224520.

Characterization of the gating brake in the I–II loop of Ca_V3 T-type calcium channels

Edward Perez-Reyes

Channels (Austin) 2010 Nov-Dec; 4(6): 453–458. Published online 2010 Nov 1. doi: 10.4161/chan.4.6.12889

PMCID:: PMC3052245

Abstract Article PDF–2.0M

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PMC Links for Gene (Select 8912) (62)
PMC
Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript va...
Homo sapiens kringle containing transmembrane protein 2 (KREMEN2), transcript variant 4, mRNA
gi|1519246175|ref|NM_172229.3|

Nucleotide
PREDICTED: Homo sapiens calcium voltage-gated channel subunit alpha1 H (CACNA1H)...
PREDICTED: Homo sapiens calcium voltage-gated channel subunit alpha1 H (CACNA1H), transcript variant X2, mRNA
gi|2217308008|ref|XM_005255652.5|

Nucleotide
Homo sapiens natriuretic peptide precursor C, mRNA (cDNA clone MGC:132727 IMAGE:...
Homo sapiens natriuretic peptide precursor C, mRNA (cDNA clone MGC:132727 IMAGE:8144070), complete cds
gi|85397188|gb|BC105067.1|

Nucleotide
Bi-P1718146
Bi-P1718146

biosample

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