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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein, Catherine, Meghan Towne, Lovelace Luquette, David Harris, Nicholas Marinakis, Peter Meinecke, Kerstin Kutsche, et al. 2013. “Mutation of KCNJ8 in a Patient With Cantú Syndrome With Unique Vascular Abnormalities - Support for the Role of K(ATP) Channels in This Condition.”. Eur J Med Genet 56 (12): 678-82.

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.