Associated Papers
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
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
Jeon GW et al.
Annals of Laboratory Medicine, 2014
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
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
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
Mutations in FLNB cause boomerang dysplasia.
Bicknell LS et al.
Journal of Medical Genetics, 2005
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