Cardiovascular consequences of K(ATP) overactivity in Cantu syndrome

Cantu syndrome (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly. The disorder is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Huang, Yan, McClenaghan, Conor, Harter, Theresa M., Hinman, Kristina, Halabi, Carmen M., Matkovich, Scot J., Zhang, Haixia, Brown, G. Schuyler, Mecham, Robert P., England, Sarah K., Kovacs, Attila, Remedi, Maria S., Nichols, Colin G.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6129117/
https://ncbi.nlm.nih.gov/pubmed/30089727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.121153
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