ReviewBiochimica et biophysica acta2013
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Review in Biochimica et biophysica acta, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Exploring the potential for gene therapy in Cav1.4-related retinal channelopathies.Channels (Austin, Tex.) · 2025Review
- Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.Journal of clinical medicine · 2025Review
- Clarifying the composition of the ATP consumption factors required for maintaining ion homeostasis in mouse rod photoreceptors.Scientific reports · 2023Article
- Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.The Journal of molecular diagnostics : JMD · 2022Article
- Cavβ1 regulates T cell expansion and apoptosis independently of voltage-gated CaNature communications · 2022Article
- The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.Pflugers Archiv : European journal of physiology · 2021Review
- Cav1.4 dysfunction and congenital stationary night blindness type 2.Pflugers Archiv : European journal of physiology · 2021Review
- Function of cone and cone-related pathways in CaScientific reports · 2021Article
- Voltage-Gated CaFrontiers in synaptic neuroscience · 2021Review
- Voltage-Gated Calcium Channels: Key Players in Sensory Coding in the Retina and the Inner Ear.Physiological reviews · 2018Review
- Channeling Vision: CaBioMed research international · 2018Review
- The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential.Pharmacological reviews · 2015Review
- The role of auxiliary subunits for the functional diversity of voltage-gated calcium channels.Journal of cellular physiology · 2015Review
- Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.Channels (Austin, Tex.) · 2015Article
- Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.Biochimica et biophysica acta · 2014Article
- Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism.Indian pacing and electrophysiology journalArticle
- Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.Channels (Austin, Tex.)Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Voltage-gated Ca²⁺ channels allow for Ca²⁺-dependent intracellular signaling by directly mediating Ca²⁺ ion influx, by physical coupling to intracellular Ca²⁺ release channels or functional coupling to other ion channels such as Ca²⁺ activated potassium channels. L-type Ca²⁺ channels that comprise the family of Ca(v)1 channels are expressed in many electrically excitable tissues and are characterized by their unique sensitivity to dihydropyridines. In this issue, we summarize genetic defects in L-type Ca²⁺ channels and analyze their role in human diseases (Ca²⁺ channelopathies); e.g. mutations in Ca(v)1.2 α1 cause Timothy and Brugada syndrome, mutations in Ca(v)1.3 α1 are linked to sinoatrial node dysfunction and deafness while mutations in Ca(v)1.4 α1 are associated with X-linked retinal disorders such as an incomplete form of congenital stationary night blindness. Herein, we also put the mutations underlying the channel's dysfunction into the structural context of the pore-forming α1 subunit. This analysis highlights the importance of combining functional data with structural analysis to gain a deeper understanding for the disease pathophysiology as well as for physiological channel function. This article is part of a Special Issue entitled: Calcium channels.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.