IndraLab

Statements

CACNA1D activates calcium(2+). 10 / 10
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"In the brain such rare CACNA1D variants inducing more subtle changes in Ca v 1.3 function may only be of disease relevance in a permissive genetic background."
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"Other ion channel genes include CACNA1D, a voltage sensitive calcium channel regulator; KCNJ2, a regulator of potassium ion transport; CHRNG, a nicotinic cholinergic receptor; and MYO1D, a putative binder of calmodulin, which mediates Ca + sensitivity to KCNQ5 ion channels."
23396134
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"There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3L-type Ca 2+ -channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms)."
31921405
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"Mechanistically it was reported that ERG induced expression of CACNA1D promoted entry of calcium ions into cytosol [XREF_BIBR]."
24739220
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"We presume that the reduced expression of CACNA1D in more aggressive prostate cancer and progressors may contribute to decreased Ca 2+ influx and results in the escape of apoptosis, thus suggesting that decreased CACNA1D expression could be a more aggressive phenotype in higher grade prostate cancer or progressors in AS."
26404961
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"Cell based studies demonstrated that activating mutations in the CACNA1D gene can cause increased intracellular Ca 2+ influx, resulting in enhanced aldosterone production XREF_BIBR, XREF_BIBR and inhibitory effect of nifedipine on aldosterone production from H295R cells with mutant Ca v 1.3 was also observed 31."
30739536
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"Mutations of KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CLCN2 are known to activate calcium signaling, and its activation potentiate CYP11B2 (aldosterone synthesis) transcription in adrenal cells."
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"There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca 2+ -channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms)."
31921405
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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 ."
32571372
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"ERG induced expression of CACNA1D was reported to promote entry of calcium ions into cytosol."
26404961