IndraLab

Statements


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"Studies in both systems revealed that expression of a transgene containing the Gly406Arg variant in exon 8A results in CACNA1C channels that have impaired VDI, leading to prolonged opening of the channel and subsequently increased Ca flux through the channel (4)."

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"In the heart, Ca binding to resident CaM on Cav1.2 mediates Ca -dependent inactivation (CDI) of inward L-type Ca current which is important for controlling cardiac action potential duration (APD)."

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"Longer exposure to METH (20min or 48h) selectively up-regulates the expression of only the CACNA1C gene, thus increasing the number of L-type Ca (2+) channels."

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"CACNA1C, a calcium channel gene, mediates the entry of calcium ions into excitable cells and is also involved in a variety of calcium dependent processes, including muscle contraction, hormone and neurotransmitter release, gene expression, cell motility, cell division and cell death."

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"Specifically, mutations in the CACNA1C gene cause an abnormal function of this calcium channel, and have been associated with BP, SCZ and another syndromic form of ASD, Timothy syndrome (TS)."

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"LQT8 and Timothy syndrome are caused by mutation in the CACNA1C gene encoding the L-type Ca 2+ channel."

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"PKA-mediated phosphorylation of Cav1.2 enhances the L-type Ca currents and also affects the channel inactivation properties [63]."

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"Taken together, Cav1.2‐mediated intracellular Ca is essential for the AM‐1 or primary AM cell aggregation and collective migration.3.4 L-type VGCC-mediated Ca 2+ influx during AM spheroids collective invasion."

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"Ketamine inhibited Cav1.2 expressed in Xenopus oocytes, and similarly inhibited L-type Ca channel activity in freshly isolated mouse bladder smooth muscle cells."

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"XREF_BIBR, XREF_BIBR, XREF_BIBR In particular, induced neurons from subjects with the risk CACNA1C single nucleotide polymorphism show greater expression of calcium channel subunit mRNA, and increased calcium signalling, compared to those without the risk allele."

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"Following the designation introduced by Tang, et al. [XREF_BIBR], we designed qPCR primers to assay three classes of splice variants previously shown to encode distinct CACNA1C isoforms that produce calcium channel subunits with different activation potentials."

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"Variants located in CACNA1C, CACNA1D, CACNA1F and CACNB2 cause gain of function by preventing voltage-dependent inactivation of Ca 1.2, Ca 1.3, Ca 1.4, and Ca β2, leading to excessive influx of Ca ."

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"Alternative splicing in CACNA1C, encoding the Ca V 1.2 pore forming subunit alpha1 C, modulates the function of Ca V 1.2 calcium channels."

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"The correlation between the relative amount of CACNA1C and the rate of pressure generation is logical as CACNA1C initiates the calcium current into the cytosol and causes the RyR-2 to release calcium from the sarcoplasmic reticulum into the cytosol, which finally leads to contraction."

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"miR-26a is expressed in β-cells and inhibits expression of voltage-gated L-type calcium channel subunit-α1C (CACNA1C), which mediates calcium influx and insulin granule fusion ."

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"In rat smooth muscle cells alpha5beta1 integrin signalling has been described to promote CACNA1C mediated calcium entry in cells through Src phosphorylation of CACNA1C on Y2122."

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"In previous simulation studies, it has been shown that changes in I CaL due to gain-of-function mutations in CACNA1C prolongs action potential duration linked to early afterdepolarizations, and increases SR calcium content which is then responsible for spontaneous calcium release and delayed afterdepolarizations."

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"Whole-cell patch clamping revealed the effect of CRMP4 SUMOylation on Cav1.2 mediated calcium influx."

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"Longer exposure to METH (20 min or 48 hr) selectively upregulates the expression of only the CACNA1C gene, thus increasing the number of L-type Ca 2+ channels."

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"Mutations in CACNA1C cause a significant increase in the sustained intracellular calcium rise, leading to changes in gene expression and altered neuronal differentiation, partly through changes in early growth response protein (Egr1) transcription factor levels [XREF_BIBR]."

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"Timothy syndrome (TS) is an autosomal dominant disorder, and is caused by a mutation in the cacna1c gene encoding the calcium channel Ca v 1.2 subunit."

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"Timothy syndrome (TS) is an autosomal dominant disorder, and is caused by a mutation in the cacna1c gene encoding the calcium channel Ca v 1.2 subunit."

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"Many of these risk genes encode proteins involved in calcium signaling including CACNA1C, CACNB2, and CACNA1I that may ultimately converge on a common disease mechanism XREF_BIBR, XREF_BIBR."

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"The activation of Cav1.2 by plasma membrane depolarization allows Ca to flow into the cell; Ca binds to RyR2, a large homotetrameric Ca release channel expressed in cardiomyocytes and located on the SR membrane (Figure 1), and induces it to open and to release Ca from the SR, thus triggering muscle contraction."

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"Alternative splicing in CACNA1C, encoding the Ca V 1.2 pore forming subunit alpha1 C, modulates the function of Ca V 1.2 calcium channels."