(Q42649557)

4 November 2017

title

A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities (English)

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4 November 2017

Qing Liu

1

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4 November 2017

Kai Jie Wang

series ordinal

2

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4 November 2017

Si Quan Zhu

series ordinal

3

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4 November 2017

publication date

21 March 2014

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4 November 2017

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4 November 2017

volume

39

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4 November 2017

issue

10

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4 November 2017

page(s)

1013-1019

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Molecular genetic basis of inherited cataract and associated phenotypes

4 November 2017

cites work

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

The genetics of childhood cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Congenital cataracts and their molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Immunologic conservation of the fiber cell beaded filament

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Bovine filensin possesses primary and secondary structure similarity to intermediate filament proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a new, lens-specific member of the intermediate filament family?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Insights into the beaded filament of the eye lens

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Dominant cataract formation in association with a vimentin assembly disrupting mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Functions of the intermediate filament cytoskeleton in the eye lens

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Inbred FVB/N mice are mutant at the cp49/Bfsp2 locus and lack beaded filament proteins in the lens

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Resisting the effects of aging: a function for the fiber cell beaded filament

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F02713683.2014.891749

10.3109/02713683.2014.891749

21 January 2018

Identifiers

DOI

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4 November 2017

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