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Select item 111165331.

Ca_V1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy

Niko Schwenzer, Nikolas K. Teiwes, Tobias Kohl, Celine Pohl, Michelle J. Giller, Stephan E. Lehnart, Claudia Steinem

Commun Biol. 2024; 7: 620. Published online 2024 May 23. doi: 10.1038/s42003-024-06313-3

PMCID:: PMC11116533

Abstract Article PDF–4.0M

Select item 107172362.

Transepithelial calcium transport in prolactin-exposed intestine-like Caco-2 monolayer after combinatorial knockdown of TRPV5, TRPV6 and Ca_v1.3

La-iad Nakkrasae, Narongrit Thongon, Jirawan Thongbunchoo, Nateetip Krishnamra, Narattaphol Charoenphandhu

J Physiol Sci. 2010 Jan; 60(1): 9–17. Published online 2009 Nov 3. doi: 10.1007/s12576-009-0068-0

PMCID:: PMC10717236

Abstract Article PDF–460K

Select item 106195033.

The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice

Nadine J. Ortner, Anupam Sah, Enrica Paradiso, Josef Shin, Strahinja Stojanovic, Niklas Hammer, Maria Haritonova, Nadja T. Hofer, Andrea Marcantoni, Laura Guarina, Petronel Tuluc, Tamara Theiner, Florian Pitterl, Karl Ebner, Herbert Oberacher, Emilio Carbone, Nadia Stefanova, Francesco Ferraguti, Nicolas Singewald, Jochen Roeper, Jörg Striessnig

JCI Insight. 2023 Oct 23; 8(20): e162100. Published online 2023 Oct 23. doi: 10.1172/jci.insight.162100

PMCID:: PMC10619503

Abstract Article PDF–2.1M

Select item 100338804.

CACNA1D overexpression and voltage-gated calcium channels in prostate cancer during androgen deprivation

Niamh McKerr, Adone Mohd-Sarip, Hannah Dorrian, Conor Breen, Jacqueline A. James, Stephen McQuaid, Ian G. Mills, Karen D. McCloskey

Sci Rep. 2023; 13: 4683. Published online 2023 Mar 22. doi: 10.1038/s41598-023-28693-y

PMCID:: PMC10033880

Abstract Article PDF–7.4M

Select item 97615695.

Histopathology and Genetic Causes of Primary Aldosteronism in Young Adults

Kazutaka Nanba, Jessica E Baker, Amy R Blinder, Nolan R Bick, Chia-Jen Liu, Jung Soo Lim, Heather Wachtel, Debbie L Cohen, Tracy Ann Williams, Martin Reincke, Melanie L Lyden, Irina Bancos, William F Young, Tobias Else, Thomas J Giordano, Aaron M Udager, William E Rainey

J Clin Endocrinol Metab. 2022 Sep; 107(9): 2473–2482. Published online 2022 Jul 2. doi: 10.1210/clinem/dgac408

PMCID:: PMC9761569

Abstract Article

Select item 96935216.

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr

Int J Mol Sci. 2022 Nov; 23(22): 14215. Published online 2022 Nov 17. doi: 10.3390/ijms232214215

PMCID:: PMC9693521

Abstract Article PDF–3.1M

Select item 95204907.

Identifying shared genetic loci between coronavirus disease 2019 and cardiovascular diseases based on cross-trait meta-analysis

Hongping Guo, Tong Li, Haiyang Wen

Front Microbiol. 2022; 13: 993933. Published online 2022 Sep 15. doi: 10.3389/fmicb.2022.993933

PMCID:: PMC9520490

Abstract Article PDF–1.4M

Select item 88633088.

A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors

Florian Thibord, Melissa V. Chan, Ming-Huei Chen, Andrew D. Johnson

HGG Adv. 2022 Apr 14; 3(2): 100095. Published online 2022 Feb 22. doi: 10.1016/j.xhgg.2022.100095

PMCID:: PMC8863308

Abstract Article PDF–1.0M

Select item 72146489.

Stimulation of L‐type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells

Malvin Jefri, Scott Bell, Huashan Peng, Nuwan Hettige, Gilles Maussion, Vincent Soubannier, Hanrong Wu, Heika Silveira, Jean‐Francois Theroux, Luc Moquin, Xin Zhang, Zahia Aouabed, Jeyashree Krishnan, Liam A. O'Leary, Lilit Antonyan, Ying Zhang, Vincent McCarty, Naguib Mechawar, Alain Gratton, Andreas Schuppert, Thomas M. Durcan, Edward A. Fon, Carl Ernst

Stem Cells Transl Med. 2020 Jun; 9(6): 697–712. Published online 2020 Mar 10. doi: 10.1002/sctm.18-0180

PMCID:: PMC7214648

Abstract Article PDF–6.1M

Select item 695083310.

Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder

Nadja T. Hofer, Petronel Tuluc, Nadine J. Ortner, Yuliia V. Nikonishyna, Monica L. Fernándes-Quintero, Klaus R. Liedl, Bernhard E. Flucher, Helen Cox, Jörg Striessnig

Mol Autism. 2020; 11: 4. Published online 2020 Jan 8. doi: 10.1186/s13229-019-0310-4

PMCID:: PMC6950833

Abstract Article PDF–2.4M

Select item 683991911.

Kv2.1 mediates spatial and functional coupling of L-type calcium channels and ryanodine receptors in mammalian neurons

Nicholas C Vierra, Michael Kirmiz, Deborah van der List, L Fernando Santana, James S Trimmer

eLife. 2019; 8: e49953. Published online 2019 Oct 30. doi: 10.7554/eLife.49953

PMCID:: PMC6839919

Abstract Article PDF–8.9M

Select item 656148412.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

Khurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, Kwanghyuk Lee, Shabir Hussain, Imen Chakchouk, Abdul Nasir, Anushree Acharya, Izoduwa Abbe, Muhammad Umair, Muhammad Ansar, Irfan Ullah, Khadim Shah, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: J Hum Genet. 2019 Feb; 64(2): 153–160. Published online 2018 Nov 30. doi: 10.1038/s10038-018-0542-8

PMCID:: PMC6561484

Abstract Article PDF–1.0M

Select item 654252413.

Combined effects of the rs9810888 polymorphism in calcium voltage-gated channel subunit alpha1 D (CACNA1D) and lifestyle behaviors on blood pressure level among Chinese children

Yi-de Yang, Jie-Yun Song, Shuo Wang, Yang Wang, Qi-Ying Song, Yan-hui Dong, Chen-Xiong Li, Hai-Jun Wang, Jun Ma

PLoS One. 2019; 14(5): e0216950. Published online 2019 May 30. doi: 10.1371/journal.pone.0216950

PMCID:: PMC6542524

Abstract Article PDF–853K

Select item 640307614.

Single-Channel Resolution of the Interaction between C-Terminal Ca_V1.3 Isoforms and Calmodulin

Elza Kuzmenkina, Elena Novikova, Wanchana Jangsangthong, Jan Matthes, Stefan Herzig

Biophys J. 2019 Mar 5; 116(5): 836–846. Published online 2019 Feb 1. doi: 10.1016/j.bpj.2019.01.025

PMCID:: PMC6403076

Abstract Article PDF–1.6M

Select item 631139315.

Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current

Andrew P. Landstrom, Nicole J. Boczek, Dan Ye, Christina Y. Miyake, Caridad M. De la Uz, Hugh D. Allen, Michael J. Ackerman, Jeffrey J. Kim

Int J Cardiol. Author manuscript; available in PMC 2018 Dec 30.

Published in final edited form as: Int J Cardiol. 2016 Oct 1; 220: 290–298. Published online 2016 Jun 23. doi: 10.1016/j.ijcard.2016.06.081

PMCID:: PMC6311393

Abstract Article PDF–1.7M

Select item 628769316.

Gating defects of disease-causing de novo mutations in Ca_v1.3 Ca²⁺ channels

Alexandra Pinggera, Giulia Negro, Petronel Tuluc, Morris J. Brown, Andreas Lieb, Jörg Striessnig

Channels (Austin) 2018; 12(1): 388–402. Published online 2018 Nov 22. doi: 10.1080/19336950.2018.1546518

PMCID:: PMC6287693

Abstract Article PDF–2.2M

Select item 620720917.

CELLULAR AND GENETIC CAUSES OF IDIOPATHIC HYPERALDOSTERONISM

Kei Omata, Fumitoshi Satoh, Ryo Morimoto, Sadayoshi Ito, Yuto Yamazaki, Yasuhiro Nakamura, Sharath K. Anand, Zeng Guo, Michael Stowasser, Hironobu Sasano, Scott A. Tomlins, William E. Rainey

Hypertension. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Hypertension. 2018 Oct; 72(4): 874–880. doi: 10.1161/HYPERTENSIONAHA.118.11086

PMCID:: PMC6207209

Abstract Article PDF–573K

Select item 613956318.

Role of a conserved glutamine in the function of voltage-gated Ca²⁺ channels revealed by a mutation in human CACNA1D

Edgar Garza-Lopez, Josue A. Lopez, Jussara Hagen, Ruth Sheffer, Vardiella Meiner, Amy Lee

J Biol Chem. 2018 Sep 14; 293(37): 14444–14454. Published online 2018 Jul 27. doi: 10.1074/jbc.RA118.003681

PMCID:: PMC6139563

Abstract Article PDF–1.8M

Select item 588626219.

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

Alexandra Pinggera, Luisa Mackenroth, Andreas Rump, Jens Schallner, Filippo Beleggia, Bernd Wollnik, Jörg Striessnig

Hum Mol Genet. 2017 Aug 1; 26(15): 2923–2932. Published online 2017 May 4. doi: 10.1093/hmg/ddx175

PMCID:: PMC5886262

Abstract Article PDF–485K

Select item 582692620.

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

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