Associated Papers
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y et al.
Plos One, 2025
Effects of truncations in the N- and C-terminal domains of filensin on filament formation with phakinin in cell-free conditions and cultured cells.
Tashiro M et al.
Febs Open Bio, 2023
Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.
Zhang W et al.
Frontiers in Chemistry, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Liu Q et al.
Current Eye Research, 2014
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S et al.
The Journal of Clinical Investigation, 2009
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Ma X et al.
Molecular Vision, 2008
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