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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JCI Insight
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2018
Gaiak:
Research Article
Sarrera elektronikoa: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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