Kir6.1- and SUR2-dependent K(ATP) overactivity disrupts intestinal motility in murine models of Cantú syndrome

Cantú syndrome (CS), caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (K(ATP)) channel subunit genes, is frequently accompanied by gastrointestinal (GI) dysmotility, and we describe 1 CS patient who required an implanted i...

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Pubblicato in:JCI Insight
Autori principali: York, Nathaniel W., Parker, Helen, Xie, Zili, Tyus, David, Waheed, Maham Akbar, Yan, Zihan, Grange, Dorothy K., Remedi, Maria Sara, England, Sarah K., Hu, Hongzhen, Nichols, Colin G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7714409/
https://ncbi.nlm.nih.gov/pubmed/33170808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.141443
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