FLNA variants associated with disorders of platelet number or function

Increased RhoA activity due to a disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia

(2019) Alessandro Donada et al.   BLOOD

Filamin A: key actor in platelet biology

(2019) Jean-Philippe Rosa et al.   BLOOD

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

(2018) Daisuke Ieda et al.   BRAIN & DEVELOPMENT

FlnA binding to PACSIN2 F-BAR domain regulates membrane tubulation in megakaryocytes and platelets

(2015) A. J. Begonja et al.   BLOOD

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

(2015) Hirotsugu Oda et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation

(2015) Jiaming Li et al.   Journal of Hematology & Oncology

47 patients with FLNA associated periventricular nodular heterotopia

(2015) Max Lange et al.   Orphanet Journal of Rare Diseases

Germline mosaicism in X-linked periventricular nodular heterotopia

(2014) Monique M LaPointe et al.   BMC Neurology

Deletion of filamin A in two female patients with periventricular nodular heterotopia

(2012) Jodi Warman Chardon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

(2012) Eliane Berrou et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2011) P. Nurden et al.   BLOOD

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

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

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

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia

(2010) Shinji Kunishima et al.   JOURNAL OF HUMAN GENETICS

Structure of the human filamin A actin-binding domain

(2009) Salla Ruskamo et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

(2008) Jill Clayton-Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS