Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With an FLNA Variant.
Frenkel A et al.
Jacc. Case Reports, 2024
The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.
Iske J et al.
Journal of Clinical Medicine, 2023
X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
Madej-Pilarczyk A et al.
Kardiologia Polska, 2023
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Wade EM et al.
Human Mutation, 2020
Structure and Function of Filamin C in the Muscle Z-Disc.
Mao Z et al.
International Journal of Molecular Sciences, 2020
Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia.
Haataja TJK et al.
Biophysical Journal, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
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
A novel structural unit in the N-terminal region of filamins.
Sethi R et al.
The Journal of Biological Chemistry, 2014
Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
Lardeux A et al.
Journal of Cardiovascular Translational Research, 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