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Items: 1 to 20 of 51

1.
CACNA1S mutation-associated dental anomalies: A calcium channelopathy
P. Kantaputra, A. Butali, S. Eliason, C. Chalkley, S. Nakornchai, C. Bongkochwilawan, K. Kawasaki, A. Kumchiang, C. Ngamphiw, S. Tongsima, J. R. Ketudat Cairns, B. Olsen, W. Intachai, A. Ohazama, A. S. Tucker, B. A. Amendt
Oral Dis. Author manuscript; available in PMC 2024 Jul 8.
Published in final edited form as: Oral Dis. 2024 Apr; 30(3): 1350–1359. Published online 2023 Mar 13. doi: 10.1111/odi.14551
PMCID:
PMC11229413
AbstractArticlePDF–2.6M
2.
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini
Genes (Basel) 2023 Jul; 14(7): 1363. Published online 2023 Jun 28. doi: 10.3390/genes14071363
PMCID:
PMC10379235
AbstractArticlePDF–3.4M
3.
Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation
Shuaixia Yu, Yang Wang, Baijie Tang, Xiang Liu, Linhong Song, Gang Xu, Hong Zhu, Huajun Sun
World J Surg Oncol. 2022; 20: 142. Published online 2022 May 4. doi: 10.1186/s12957-022-02601-6
PMCID:
PMC9066904
AbstractArticlePDF–3.4M
4.
Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report
Edmar O Benítez-Alonso, Juan C López-Hernández, Javier A Galnares-Olalde, Raúl E Alcalá, Edwin S Vargas-Cañas
Cureus. 2022 Apr; 14(4): e23760. Published online 2022 Apr 2. doi: 10.7759/cureus.23760
PMCID:
PMC9060183
AbstractArticlePDF–159K
5.
Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients
Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Paulina Komasińska-Piotrowska, Barbara Steinborn
J Clin Med. 2022 Feb; 11(3): 606. Published online 2022 Jan 25. doi: 10.3390/jcm11030606
PMCID:
PMC8836595
AbstractArticlePDF–1.3M
6.
Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome
Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson
Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584
PMCID:
PMC8769072
AbstractArticlePDF–2.9M
7.
Novel CACNA1S mutation in hypokalaemic periodic paralysis
Telma Luís, Maria Inês Linhares, Sónia Regina Silva, Filipa Rodrigues
BMJ Case Rep. 2022; 15(1): e245952. Published online 2022 Jan 17. doi: 10.1136/bcr-2021-245952
PMCID:
PMC8768461
AbstractArticlePDF–195K
8.
Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report
Juan Carlos López-Hernández, Javier A Galnares-Olalde, Edmar Benitez-Alonso, Raul E Alcalá, Edwin Steven Vargas-Cañas
Cureus. 2021 Oct; 13(10): e18873. Published online 2021 Oct 18. doi: 10.7759/cureus.18873
PMCID:
PMC8599111
AbstractArticlePDF–279K
9.
Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family
Jie-Yuan Jin, Bing-Bing Guo, Yi Dong, Yue Sheng, Liang-Liang Fan, Li-Bing Zhang
Front Genet. 2021; 12: 743184. Published online 2021 Oct 29. doi: 10.3389/fgene.2021.743184
PMCID:
PMC8586648
AbstractArticlePDF–710K
10.
Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP
Fenfen Wu, Marbella Quinonez, Stephen C. Cannon
J Gen Physiol. 2021 Nov 1; 153(11): e202112946. Published online 2021 Aug 31. doi: 10.1085/jgp.202112946
PMCID:
PMC8563280
AbstractArticlePDF–4.3M
11.
Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation
Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee
Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572
PMCID:
PMC8307194
AbstractArticlePDF–2.8M
12.
Structural determinants of voltage-gating properties in calcium channels
Monica L Fernández-Quintero, Yousra El Ghaleb, Petronel Tuluc, Marta Campiglio, Klaus R Liedl, Bernhard E Flucher
eLife. 2021; 10: e64087. Published online 2021 Mar 30. doi: 10.7554/eLife.64087
PMCID:
PMC8099428
AbstractArticlePDF–5.0M
13.
CACNA1S haploinsufficiency confers resistance to New World arenavirus infection
Nicolás Sarute, Susan R. Ross
Proc Natl Acad Sci U S A. 2020 Aug 11; 117(32): 19497–19506. Published online 2020 Jul 27. doi: 10.1073/pnas.1920551117
PMCID:
PMC7431027
AbstractArticlePDF–1.0M
14.
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S
Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P. Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga
Mol Genet Genomic Med. 2020 Apr; 8(4): e1175. Published online 2020 Feb 27. doi: 10.1002/mgg3.1175
PMCID:
PMC7196457
AbstractArticlePDF–427K
15.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
16.
PharmGKB summary: very important pharmacogene information for CACNA1S
Katrin Sangkuhl, Robert T. Dirksen, Maria L. Alvarellos, Russ B. Altman, Teri E. Klein
Pharmacogenet Genomics. Author manuscript; available in PMC 2021 Feb 1.
Published in final edited form as: Pharmacogenet Genomics. 2020 Feb; 30(2): 34–44. doi: 10.1097/FPC.0000000000000393
PMCID:
PMC7008936
AbstractArticlePDF–379K
17.
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants
Senthilkumar Sadhasivam, Barbara W Brandom, Richard A Henker, John J McAuliffe
Pharmacogenomics. 2019 Sep; 20(14): 989–1003. Published online 2019 Sep 27. doi: 10.2217/pgs-2019-0055
PMCID:
PMC7006767
AbstractArticlePDF–491K
18.
Gating of the L-Type Ca Channel in Human Skeletal Myotubes: An Activation Defect Caused by the Hypokalemic Periodic Paralysis Mutation R528H
James A. Morrill, Robert H. Brown, Jr, Stephen C. Cannon
J Neurosci. 1998 Dec 15; 18(24): 10320–10334. doi: 10.1523/JNEUROSCI.18-24-10320.1998
PMCID:
PMC6793372
AbstractArticlePDF–234K
19.
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms
Paul J Isackson, Jianxin Wang, Mohammad Zia, Paul Spurgeon, Adrian Levesque, Jonathan Bard, Smitha James, Norma Nowak, Tae Keun Lee, Georgirene D Vladutiu
Pharmacogenomics. 2018 Nov; 19(16): 1235–1249. Published online 2018 Oct 16. doi: 10.2217/pgs-2018-0106
PMCID:
PMC6563124
AbstractArticlePDF–449K
20.
Na leak with gating pore properties in hypokalemic periodic paralysis V876E mutant muscle Ca channel
Clarisse Fuster, Jimmy Perrot, Christine Berthier, Vincent Jacquemond, Pierre Charnet, Bruno Allard
J Gen Physiol. 2017 Dec 4; 149(12): 1139–1148. doi: 10.1085/jgp.201711834
PMCID:
PMC5715907
AbstractArticlePDF–1.0M

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