Редактирование: BFSP2 (раздел)

==Publications==

{{medline-entry
|title=Functions of the intermediate filament cytoskeleton in the eye lens.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19587458
|abstract=Intermediate filaments (IFs) are a key component of the cytoskeleton in virtually all vertebrate cells, including those of the lens of the eye. IFs help integrate individual cells into their respective tissues. 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 filamentous polymers in establishing the optical properties of the eye lens and in maintaining its transparency. For instance, mutations in both [[BFSP1]] and [[BFSP2]] cause cataract in humans. We also explore the potential role of [[BFSP1]] and [[BFSP2]] in aging processes in the lens.
|mesh-terms=* Aging
* Animals
* Cataract
* Eye Proteins
* Humans
* Intermediate Filament Proteins
* Intermediate Filaments
* Lens, Crystalline
* Mice
* Mutation
* Vimentin
* alpha-Crystallin B Chain

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701874
}}
{{medline-entry
|title=The E233del mutation in [[BFSP2]] causes a progressive autosomal dominant congenital cataract in a Chinese family.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/17982427
|abstract=Congenital cataract is a fundamental cause of blindness throughout the world. A large multi-generational family in northern China was investigated to determine the genetic cause of a progressive autosomal dominant congenital cataract. Slit-lamp photography was conducted to provide definite data for cataract diagnosis. A genome wide scan, linkage analysis, and haplotype analysis were performed to shield the linkage region on the chromosome. [[BFSP2]] was investigated by direct sequencing and detection of fluorescent labeled polymerase chain reaction (PCR) products. Two-point linkage analysis mapped this autosomal dominant congenital cataract (ADCC) locus to D3S1292 in 3q22.1 with a LOD score Zmax=3.99 (theta=0.00). 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 unrelated controls. The E233del mutation in [[BFSP2]] is the cause of the cataract phenotype in this pedigree. The progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by [[BFSP2]] mutations and for the important role [[BFSP2]] plays in cataract formation.
|mesh-terms=* Aged
* Aging
* Asian Continental Ancestry Group
* Cataract
* Child
* Chromosome Mapping
* Chromosome Segregation
* Chromosomes, Human, Pair 3
* Disease Progression
* Exons
* Eye Proteins
* Female
* Gene Deletion
* Genes, Dominant
* Haplotypes
* Humans
* Intermediate Filament Proteins
* Lod Score
* Male
* Pedigree


}}