ACTA2mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

(2012) J. Richer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

(2012) P. Munot et al.   BRAIN

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

(2012) Hans Ulrik Moller et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

(2011) Sabine Hoffjan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The filamins

(2011) Fumihiko Nakamura et al.   Cell Adhesion & Migration

Loss of Microtubule-to-Actin Linkage Disrupts Cortical Development

(2011) Richard Robinson   PLOS BIOLOGY

Three-Dimensional Regulation of Radial Glial Functions by Lis1-Nde1 and Dystrophin Glycoprotein Complexes

(2011) Ashley S. Pawlisz et al.   PLOS BIOLOGY

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

(2010) Dianna M. Milewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

(2010) Raj P. Kapur et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Combined cardiological and neurological abnormalities due to filamin A gene mutation

(2010) Marie Claire Y. de Wit et al.   Clinical Research in Cardiology

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

(2010) Alice Masurel-Paulet et al.   European Journal of Medical Genetics

Lung disease in FLNA mutation: Confirmatory report

(2010) M.C.Y. de Wit et al.   European Journal of Medical Genetics

Cell mechanics and the cytoskeleton

(2010) Daniel A. Fletcher et al.   NATURE

Filamins in cell signaling, transcription and organ development

(2010) Alex-Xianghua Zhou et al.   TRENDS IN CELL BIOLOGY

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

(2007) B.L. Callewaert et al.   HUMAN MUTATION