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Trends Cardiovasc Med. 2007 Oct;17(7):222-9.

Filamins in cardiovascular development.

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Sahlgrenska Center for Cardiovascular and Metabollic Research, Wallenberg Laboratory, SE-413 45 Göteborg, Sweden.


Filamins are classically recognized as large cytoplasmic proteins that cross-link cortical actin into dynamic 3-dimensional structures and transmit extracellular signals through integrin receptors into the cytoplasm. However, recent reports indicate that filamins interact with a large number of other proteins with diverse functions, including transcriptional factors and cellular molecules involved in signaling, adhesion, and cellular motility, and are also present in the cell nucleus. In addition, genetic mutations in filamins have been linked to a wide range of human genetic disorders, including skeletal, central nervous system, and cardiovascular malformations, highlighting distinct filamin interactions. Here, we update the cardiovascular phenotypes of patients with mutations in filamin genes and mice deficient in filamins and filamin-interacting proteins.

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