Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by approximately 30% of patients. We used CRISPR/Cas9...
Main Authors: | Haixia Zhang, Alex Hanson, Tobias Scherf de Almeida, Christopher Emfinger, Conor McClenaghan, Theresa Harter, Zihan Yan, Paige E. Cooper, G. Schuyler Brown, Eric C. Arakel, Robert P. Mecham, Atilla Kovacs, Carmen M. Halabi, Blanche Schwappach, Maria S. Remedi, Colin G. Nichols |
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Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2021-03-01
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Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.145934 |
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