ABCC9 p.Gln52Asp

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PMID: 23974906 [PubMed] Li A et al: "Hypotension due to Kir6.1 gain-of-function in vascular smooth muscle."
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204 It is also noteworthy that glibenclamide inhibition of these currents is less than the glibenclamide inhibition of WT channels, again reflective of the loss of sulfonylurea sensitivity documented for the open-state stabilizing Gln52Asp mutation in Kir6.2.20 Vascular KATP and Blood Pressure Control KATP channels are presumed to be tonically active in many vascular beds, and hence to play a role in establishing basal vessel tone, based on glibenclamide-induced depolarization and constriction, both in isolated arteries and in vivo.35 Pharmacological activation of KATP channels typically leads to a lowering of intracellular Ca2+ levels, increase in arteriole diameter, and decrease in vascular resistance,2 but the exact target of such activators is not always clear.
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ABCC9 p.Gln52Asp 23974906:204:227
status: NEW
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