Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 1
2012 3
2017 1
2020 2
2021 1
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
CACNA1C-Related Channelopathies.
Herold KG, Hussey JW, Dick IE. Herold KG, et al. Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624. Handb Exp Pharmacol. 2023. PMID: 36598608 Free PMC article. Review.
The CACNA1C gene encodes the pore-forming subunit of the Ca(V)1.2 L-type Ca(2+) channel, a critical component of membrane physiology in multiple tissues, including the heart, brain, and immune system. ...The first mutations identified within CACNA1C were shown to ca …
The CACNA1C gene encodes the pore-forming subunit of the Ca(V)1.2 L-type Ca(2+) channel, a critical component of membrane phys …
Timothy syndrome iPSC modeling.
Bekdash R, Klein AD, Yazawa M. Bekdash R, et al. Mol Cell Neurosci. 2020 Sep;107:103529. doi: 10.1016/j.mcn.2020.103529. Epub 2020 Jul 3. Mol Cell Neurosci. 2020. PMID: 32629111 Review.
Particular gain-of-function mutations in CACNA1C encoding Ca(V)1.2 have been associated with Timothy Syndrome, a devastating disease with a multi-organ phenotype. Efforts to understand the underlying pathophysiology and find therapeutic strategy have been spu …
Particular gain-of-function mutations in CACNA1C encoding Ca(V)1.2 have been associated with Timothy Syndrome, a devast …
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C, Zhang Y. Jiang C, et al. Expert Rev Mol Med. 2023 May 3;25:e17. doi: 10.1017/erm.2023.11. Expert Rev Mol Med. 2023. PMID: 37132248 Free PMC article. Review.
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. In this work, first …
Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchro …
Voltage-Gated Calcium Channels in Nonexcitable Tissues.
Pitt GS, Matsui M, Cao C. Pitt GS, et al. Annu Rev Physiol. 2021 Feb 10;83:183-203. doi: 10.1146/annurev-physiol-031620-091043. Epub 2020 Oct 26. Annu Rev Physiol. 2021. PMID: 33106102 Free PMC article. Review.
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome, a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted roles for the L-type voltage-gated Ca(2+) channel Ca(V)1.2 in nonexcitable c …
The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy syndrome, a rare disorder characterized b …
L-type Ca2+ channel function during Timothy syndrome.
Dixon RE, Cheng EP, Mercado JL, Santana LF. Dixon RE, et al. Trends Cardiovasc Med. 2012 Apr;22(3):72-6. doi: 10.1016/j.tcm.2012.06.015. Trends Cardiovasc Med. 2012. PMID: 22999068 Free PMC article. Review.
Voltage-gated, dihydropyridine-sensitive L-type Ca(2+) channels are multimeric proteins composed of a pore-forming transmembrane alpha(1) subunit (Ca(v)1.2) and accessory beta, alpha(2)delta, and gamma subunits. ...Two de novo point mutations of Ca(v)1 …
Voltage-gated, dihydropyridine-sensitive L-type Ca(2+) channels are multimeric proteins composed of a pore-forming transmembrane alph …
Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R, Hategan L, Bácsi A, Cseklye J, Környei L, Borbás J, Széll M, Forster T, Nagy I, Hegedűs Z. Sepp R, et al. Am J Med Genet A. 2017 Mar;173(3):784-789. doi: 10.1002/ajmg.a.38084. Am J Med Genet A. 2017. PMID: 28211989 Free article. Review.
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. ...On medical therapy with propranolol an …
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongatio …
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J, Bolz HJ, Koschak A. Striessnig J, et al. Pflugers Arch. 2010 Jul;460(2):361-74. doi: 10.1007/s00424-010-0800-x. Epub 2010 Mar 7. Pflugers Arch. 2010. PMID: 20213496 Free PMC article. Review.
This is achieved by mediating Ca2+ ion influx or by direct conformational coupling to intracellular Ca2+ release channels. The family of Cav1 channels, also termed L-type Ca2+ channels (LTCCs), is uniquely sensitive to organic Ca2+ channel blockers and expressed in many el …
This is achieved by mediating Ca2+ ion influx or by direct conformational coupling to intracellular Ca2+ release channels. The family of Cav …
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L, Denegri M, Napolitano C, Priori SG. Venetucci L, et al. Nat Rev Cardiol. 2012 Oct;9(10):561-75. doi: 10.1038/nrcardio.2012.93. Epub 2012 Jun 26. Nat Rev Cardiol. 2012. PMID: 22733215 Review.
Secondly, we review defects in genes encoding proteins that form the voltage-dependent L-type calcium channel, which regulates calcium entry into myocytes. Mutations in these genes cause various phenotypes, including Timothy syndrome, Brugada syndrome, and ea …
Secondly, we review defects in genes encoding proteins that form the voltage-dependent L-type calcium channel, which regulates calciu …
Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
Bidaud I, Lory P. Bidaud I, et al. Biochimie. 2011 Dec;93(12):2080-6. doi: 10.1016/j.biochi.2011.05.015. Epub 2011 May 31. Biochimie. 2011. PMID: 21664226 Review.
Among them, the Timothy syndrome (TS) is linked to missense mutations in CACNA1C, the gene that encodes the Ca(v)1.2 subunit. Here we review the important features of the Cav1 channelopathies. We also report on the specific properties of TS-Ca(v)1.2 ch …
Among them, the Timothy syndrome (TS) is linked to missense mutations in CACNA1C, the gene that encodes the Ca(v)1.2 su …