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Page 1
Intermediate Filament Protein BFSP2 Controls Spindle Formation via HSC70-Mediated Stabilization of CLTC During Oocyte meiosis.
Li Y, Zhang Z, Zhang Y, Xiong B. Li Y, et al. Adv Sci (Weinh). 2025 Oct;12(37):e06639. doi: 10.1002/advs.202506639. Epub 2025 Jul 2. Adv Sci (Weinh). 2025. PMID: 40600490 Free PMC article.
Depletion of BFSP2 resulted in the meiotic arrest at MI stage due to the aberrant spindle assembly-induced spindle assembly checkpoint activation. Depletion of BFSP2 also led to incorrect kinetochore-microtubule attachments and the occurrence of aneuploidy in oocyte …
Depletion of BFSP2 resulted in the meiotic arrest at MI stage due to the aberrant spindle assembly-induced spindle assembly checkpoin …
Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton.
Sandilands A, Wang X, Hutcheson AM, James J, Prescott AR, Wegener A, Pekny M, Gong X, Quinlan RA. Sandilands A, et al. Exp Eye Res. 2004 Apr;78(4):875-89. doi: 10.1016/j.exer.2003.09.028. Exp Eye Res. 2004. PMID: 15037121
Here we report the first natural mutation in the mouse Bfsp2 gene. Characterisation of mouse Bfsp2 in the 129X1/SvJ revealed a mutation that deleted the acceptor site of exon 2. ...Vimentin was a key component of this residual material as shown by immunoelectron mic …
Here we report the first natural mutation in the mouse Bfsp2 gene. Characterisation of mouse Bfsp2 in the 129X1/SvJ revealed a …
Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton.
Sandilands A, Wang X, Hutcheson AM, James J, Prescott AR, Wegener A, Pekny M, Gong X, Quinlan RA. Sandilands A, et al. Exp Eye Res. 2004 Jan;78(1):109-23. doi: 10.1016/j.exer.2003.09.001. Exp Eye Res. 2004. Corrected and republished in: Exp Eye Res. 2004 Apr;78(4):875-89. doi: 10.1016/j.exer.2003.09.028. PMID: 14667833 Corrected and republished.
Here we report the first natural mutation in the mouse Bfsp2 gene. Characterisation of mouse Bfsp2 in the 129X1/SvJ revealed a mutation that deleted the acceptor site of exon 2. ...Vimentin was a key component of this residual material as shown by immunoelectron mic …
Here we report the first natural mutation in the mouse Bfsp2 gene. Characterisation of mouse Bfsp2 in the 129X1/SvJ revealed a …
Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Aldahmesh MA, et al. Genet Med. 2011 Nov;13(11):978-81. doi: 10.1097/GIM.0b013e31822623d5. Genet Med. 2011. PMID: 21836522 Free article.
METHODS: We studied two consanguineous families with different eye phenotypes and used a combination of candidate gene analysis and homozygosity mapping to identify the underlying genetic defects. RESULTS: In one family, a novel BFSP2 mutation causes autosomal recessive di …
METHODS: We studied two consanguineous families with different eye phenotypes and used a combination of candidate gene analysis and homozygo …
Evolution of the vertebrate beaded filament protein, Bfsp2; comparing the in vitro assembly properties of a "tailed" zebrafish Bfsp2 to its "tailless" human orthologue.
Qu B, Landsbury A, Schönthaler HB, Dahm R, Liu Y, Clark JI, Prescott AR, Quinlan RA. Qu B, et al. Exp Eye Res. 2012 Jan;94(1):192-202. doi: 10.1016/j.exer.2011.12.001. Epub 2011 Dec 11. Exp Eye Res. 2012. PMID: 22182672 Free PMC article.
In bony fishes, Bfsp2 orthologues are predicted to possess a C-terminal tail domain, which is absent from avian, amphibian and mammalian Bfsp2 sequences. ...Data mining of the genome databases suggest that the loss of this tail domain could occur in several stages l …
In bony fishes, Bfsp2 orthologues are predicted to possess a C-terminal tail domain, which is absent from avian, amphibian and mammal …
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ. Ma X, et al. Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24. Mol Vis. 2008. PMID: 18958306 Free PMC article.
Sequencing the beaded filament structural protein 2 (BFSP2) gene revealed a G>A transversion in exon 5, which caused a conservative substitution of Arg to His at codon 339 (P.R339H). ...CONCLUSIONS: This is the first reported case of a congenital lamellar cataract pheno …
Sequencing the beaded filament structural protein 2 (BFSP2) gene revealed a G>A transversion in exon 5, which caused a conservativ …
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. Jakobs PM, et al. Am J Hum Genet. 2000 Apr;66(4):1432-6. doi: 10.1086/302872. Epub 2000 Mar 16. Am J Hum Genet. 2000. PMID: 10739768 Free PMC article.
Elsewhere, in family ADCC-3, we mapped an autosomal-dominant cataract gene to chromosome 3q21-q22, near the gene that encodes a lens-specific beaded filament protein gene, BFSP2. By sequencing the coding regions of BFSP2, we found that a deletion mutation, DeltaE233 …
Elsewhere, in family ADCC-3, we mapped an autosomal-dominant cataract gene to chromosome 3q21-q22, near the gene that encodes a lens-specifi …
The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.
Cui X, Gao L, Jin Y, Zhang Y, Bai J, Feng G, Gao W, Liu P, He L, Fu S. Cui X, et al. Mol Vis. 2007 Oct 24;13:2023-9. Mol Vis. 2007. PMID: 17982427
Haplotype analysis located the cosegregating region between marker D3S1551 and D3S3617. In this region, BFSP2 is a powerful candidate gene. Direct sequencing identified the cosegregating E233del mutation in exon 3 of BFSP2. This mutation was not detected in 100 unre …
Haplotype analysis located the cosegregating region between marker D3S1551 and D3S3617. In this region, BFSP2 is a powerful candidate …
Insights into the beaded filament of the eye lens.
Perng MD, Zhang Q, Quinlan RA. Perng MD, et al. Exp Cell Res. 2007 Jun 10;313(10):2180-8. doi: 10.1016/j.yexcr.2007.04.005. Epub 2007 Apr 6. Exp Cell Res. 2007. PMID: 17490642 Free PMC article. Review.
Filensin (BFSP1) and CP49 (BFSP2) represent two members of the IF protein superfamily that are thus far exclusively expressed in the eye lens. ...In the case of CP49 (BFSP2), there are now three unrelated families who have been identified with a common E233 Delta mu …
Filensin (BFSP1) and CP49 (BFSP2) represent two members of the IF protein superfamily that are thus far exclusively expressed in the …
Functions of the intermediate filament cytoskeleton in the eye lens.
Song S, Landsbury A, Dahm R, Liu Y, Zhang Q, Quinlan RA. Song S, et al. J Clin Invest. 2009 Jul;119(7):1837-48. doi: 10.1172/JCI38277. Epub 2009 Jul 1. J Clin Invest. 2009. PMID: 19587458 Free PMC article. Review.
This Review focuses on the lens-specific IF proteins beaded filament structural proteins 1 and 2 (BFSP1 and BFSP2) and their role in lens physiology and disease. Evidence generated in studies in both mice and humans suggests a critical role for these proteins and their fil …
This Review focuses on the lens-specific IF proteins beaded filament structural proteins 1 and 2 (BFSP1 and BFSP2) and their role in …
49 results