Associated Papers
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK et al.
Molecules (basel, Switzerland), 2020
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Rehder H et al.
American Journal of Medical Genetics. Part A, 2018
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.
Ithychanda SS et al.
The Journal of Biological Chemistry, 2017
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Yang CF et al.
Human Mutation, 2017
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM et al.
Bmc Medical Genetics, 2016
F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
Zhao Y et al.
American Journal of Physiology. Cell Physiology, 2016
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.
Okumura A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel PB et al.
Human Mutation, 2012
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.
Tsutsumi S et al.
Fetal Diagnosis and Therapy, 2012
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.
Sawyer GM et al.
Journal of Molecular Biology, 2009
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C et al.
Human Mutation, 2006
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP
Human Molecular Genetics, 2004
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