Associated Papers
A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant.
Cai H et al.
Orthopaedic Surgery, 2025
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1.
Kim J et al.
Frontiers in Pediatrics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Wade EM et al.
Human Mutation, 2020
Steric regulation of tandem calponin homology domain actin-binding affinity.
Harris AR et al.
Molecular Biology of the Cell, 2019
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Structural basis of the filamin A actin-binding domain interaction with F-actin.
Iwamoto DV et al.
Nature Structural & Molecular Biology, 2018
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.
Ithychanda SS et al.
The Journal of Biological Chemistry, 2017
Association of mutations in FLNA with craniosynostosis.
Fennell N et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM et al.
American Journal of Human Genetics, 2011
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR et al.
Human Molecular Genetics, 2009
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Molecular pathology of filamin A: diverse phenotypes, many functions.
Robertson SP
Clinical Dysmorphology, 2004
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP et al.
Nature Genetics, 2003