Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant.
Cai H et al.
Orthopaedic Surgery, 2025
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2025
Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With an FLNA Variant.
Frenkel A et al.
Jacc. Case Reports, 2024
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease.
Delwarde C et al.
Heart (british Cardiac Society), 2024
The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.
Iske J et al.
Journal of Clinical Medicine, 2023
Genetic mechanisms underlying arrhythmogenic mitral valve prolapse: Current and future perspectives.
Levy S et al.
Heart Rhythm O2, 2023
Periostin/Filamin-A: A Candidate Central Regulatory Axis for Valve Fibrogenesis and Matrix Compaction.
Misra S et al.
Frontiers in Cell and Developmental Biology, 2021
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Wade EM et al.
Human Mutation, 2020
Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia.
Haataja TJK et al.
Biophysical Journal, 2019
Non-syndromic Mitral Valve Dysplasia Mutation Changes the Force Resilience and Interaction of Human Filamin A.
Haataja TJK et al.
Structure (london, England : 1993), 2019
In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
Fernández L et al.
Revista Espanola De Cardiologia (english Ed.), 2018
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau T et al.
European Heart Journal, 2018
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Ritelli M et al.
American Journal of Medical Genetics. Part A, 2017
MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions.
Duval D et al.
Journal of Cardiovascular Development and Disease, 2015
Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis.
Delling FN et al.
Circulation, 2014
Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation.
Duval D et al.
Biochimica Et Biophysica Acta, 2014
Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.
Aalberts JJ et al.
American Journal of Medical Genetics. Part A, 2014
Crystal structure of the filamin N-terminal region reveals a hinge between the actin binding and first repeat domains.
Sawyer GM et al.
Journal of Molecular Biology, 2012
Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
Lardeux A et al.
Journal of Cardiovascular Translational Research, 2011
Familial cardiac valvulopathy due to filamin A mutation.
Bernstein JA et al.
American Journal of Medical Genetics. Part A, 2011
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Filamins in cardiovascular development.
Zhou X et al.
Trends in Cardiovascular Medicine, 2007
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
Kyndt F et al.
Circulation, 2007
Mitral Valve Prolapse: Multimodality Imaging and Genetic Insights.
Parwani P et al.
Progress in Cardiovascular Diseases, 0
A Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical Spectrum.
Uchida N et al.
Congenital Anomalies, 0