Citations for
1BFSP1, BFSP2
Expression of the type VI intermediate filament proteins CP49 and filensin in the mouse lens epithelium.
FitzGerald P, Sun N, Shibata B, Hess JF.
Mol Vis 22:970-89. eCollection 2016. 2016
2BFSP1, BFSP2
In vivo, Ex Vivo, and In Vitro Approaches to Study Intermediate Filaments in the Eye Lens.
Jarrin M, Young L, Wu W, Girkin JM, Quinlan RA.
Methods Enzymol 568:581-611. doi: 10.1016/bs.mie.2015.09.010. Epub 2015 Nov 3. 2016
3BFSP1, BFSP2
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S, Landsbury A, Dahm R, Liu Y, Zhang Q, Quinlan RA.
J Clin Invest 119(7):1837-48. doi: 10.1172/JCI38277. Epub 2009 Jul 1. Review. 2009
4BFSP2
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.
Mol Vis 14:1906-11. Epub 2008 Oct 24. 2008
5BFSP2
Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.
Pittenger JT, Hess JF, Fitzgerald PG.
Invest Ophthalmol Vis Sci 48(11):5132-41. 2007
6ADCC3, BFSP2
Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.
Zhang L, Gao L, Li Z, Qin W, Gao W, Cui X, Feng G, Fu S, He L, Liu P.
Mol Vis 12:1626-31. 2006
7BFSP2, ADCC3
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF.
Mol Vis 10:890-900. 2004
8BFSP2
Targeted genomic deletion of the lens-specific intermediate filament protein CP49.
Alizadeh A, Clark JI, Seeberger T, Hess J, Blankenship T, Spicer A, FitzGerald PG.
Invest Ophthalmol Vis Sci 43(12):3722-7. 2002
9ADCC3, BFSP2
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M.
Am J Hum Genet 66(4):1432-6. 2000
10ADCC3, BFSP2
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB.
Am J Hum Genet 66(4):1426-31. 2000
11BFSP2
Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.
Carter JM, McLean WH, West S, Quinlan RA.
Biochem Biophys Res Commun 270(2):432-6. 2000
12BFSP1, BFSP2
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
Hess JF, Casselman JT, FitzGerald PG.
Curr Eye Res 14(1):11-8. 1995