Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies

Evidence for the mechanosensor function of filamin in tissue development

(2016) Sven Huelsmann et al.   Scientific Reports

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

CAGEr: precise TSS data retrieval and high-resolution promoterome mining for integrative analyses

(2015) Vanja Haberle et al.   NUCLEIC ACIDS RESEARCH

Documentation and localization of force-mediated filamin A domain perturbations in moving cells

(2014) Fumihiko Nakamura et al.   Nature Communications

Novel no-stop FLNA mutation causes multi-organ involvement in males

(2013) Renske Oegema et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

(2012) Eyal Reinstein et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

(2012) Christine S. van der Werf et al.   GENETICS IN MEDICINE

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Chronic Intestinal Pseudo-Obstruction: Clinical Features, Diagnosis, and Therapy

(2011) Roberto De Giorgio et al.   GASTROENTEROLOGY CLINICS OF NORTH AMERICA

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

Structural and Viscoelastic Properties of Actin/Filamin Networks: Cross-Linked versus Bundled Networks

(2009) K.M. Schmoller et al.   BIOPHYSICAL JOURNAL

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

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

Chronic intestinal pseudo-obstruction

(2008) Alexandra Antonucci et al.   WORLD JOURNAL OF GASTROENTEROLOGY