title: Filamin A: phenotypic diversity.
abstract: Filamins cross-link the actin cytoskeleton into orthogonal networks and modulate the response of cells to their chemical and mechanical environment by regulating changes in shape and motility. Null mutations in FLNA, the gene that encodes filamin A, lead to defects in neuronal migration, vascular function and connective tissue integrity. By contrast, missense mutations in this same gene produce a spectrum of malformations in multiple organ systems, especially the skeleton. The production of such distinctly different phenotypes from loss- and gain-of-function mechanisms provokes questions as to how a ubiquitously expressed structural protein can subserve crucial but discrete roles during development in many organ systems.
authors.affiliation: Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, PO Box 913, Dunedin, New Zealand. stephen.robertson@stonebow.otago.ac.nz
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Robertson
mesh_terms: D000818:Animals; D002465:Cell Movement / Q000235:genetics; D003285:Contractile Proteins / Q000235:genetics* / Q000378:metabolism*; D064448:Filamins; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism*; D009474:Neurons / Q000166:cytology / Q000378:metabolism; D010641:Phenotype; D011485:Protein Binding
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins