Associated Papers
Disruption of FLNB leads to skeletal malformation by interfering with skeletal segmentation through the HOX gene.
Xu Q et al.
Bone Reports, 2024
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
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Bernkopf M et al.
Human Mutation, 2017
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.
P S et al.
Journal of Cellular Biochemistry, 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
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 molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS et al.
Journal of Medical Genetics, 2007
Mutations responsible for Larsen syndrome cluster in the FLNB protein.
Zhang D et al.
Journal of Medical Genetics, 2006
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Krakow D et al.
Nature Genetics, 2004
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