Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly

(2011) A. Jurak Begonja et al.   BLOOD

Regulation of X-chromosome inactivation by the X-inactivation centre

(2011) Sandrine Augui et al.   NATURE REVIEWS GENETICS

The filamins

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

Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

(2010) Yu Sun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B

(2010) P. Nurden et al.   BLOOD

High shear-dependent loss of membrane integrity and defective platelet adhesion following disruption of the GPIb -filamin interaction

(2010) S. L. Cranmer et al.   BLOOD

A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function

(2010) Hervé Falet et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Identification and Characterization of Multiple Similar Ligand-binding Repeats in Filamin

(2009) Sujay Subbayya Ithychanda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

(2009) G Sole et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A shear gradient–dependent platelet aggregation mechanism drives thrombus formation

(2009) Warwick S Nesbitt et al.   NATURE MEDICINE

ASB2 targets filamins A and B to proteasomal degradation

(2008) M. L. Heuze et al.   BLOOD

Mutation of the  1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

(2008) S. Kunishima et al.   BLOOD

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

(2008) A. B. Federici et al.   BLOOD

Accumulation ofMYH9mRNA at leukocyte inclusion bodies inMYH9disorders

(2008) Shinji Kunishima et al.   EUROPEAN JOURNAL OF HAEMATOLOGY