Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics

This publication has 64 references indexed in Scilit:

• Nonmuscle myosin-2: mix and match
  Cellular and Molecular Life Sciences, 2012
• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
  Nature Genetics, 2012
• Remodeling of actin filaments by ADF/cofilin proteins
  Proceedings of the National Academy of Sciences, 2011
• Actin Structure and Function
  Annual Review of Biophysics, 2011
• The actin gene family: Function follows isoform
  Cytoskeleton, 2010
• De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
  American Journal of Medical Genetics Part A, 2010
• γ-Actin is required for cytoskeletal maintenance but not development
  Proceedings of the National Academy of Sciences, 2009
• Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
  The American Journal of Human Genetics, 2009
• A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia
  The American Journal of Human Genetics, 2006
• The locomotion of fibroblasts in culture
  Experimental Cell Research, 1970