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Filamins in cardiovascular development.

Journal article
Authors Xianghua Zhou
Jan Borén
Levent Akyürek
Published in Trends in Cardiovascular Medicine
Volume 17
Issue 7
Pages 222-9
ISSN 1050-1738
Publication year 2007
Published at Wallenberg Laboratory
Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Pages 222-9
Language en
Links dx.doi.org/10.1016/j.tcm.2007.08.00...
Subject categories Medical and Health Sciences

Abstract

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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