(Q46690149)

24 December 2017

title

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

1 reference

24 December 2017

author

Mohammed A Aldahmesh

series ordinal

1

1 reference

24 December 2017

Fowzan S Alkuraya

series ordinal

4

object named as

Fowzan S Alkuraya

1 reference

24 December 2017

2

Arif O Khan

1 reference

24 December 2017

author name string

Jawahir Mohamed

series ordinal

3

1 reference

24 December 2017

language of work or name

English

0 references

publication date

1 November 2011

1 reference

24 December 2017

published in

Genetics in Medicine

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24 December 2017

volume

13

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24 December 2017

issue

11

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24 December 2017

page(s)

978-981

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24 December 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31822623d5

exact match

0 references

cites work

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

The beaded intermediate filaments and their potential functions in eye lens

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

Insights into the beaded filament of the eye lens

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

Functions of the intermediate filament cytoskeleton in the eye lens

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

Seeing is believing! The optical properties of the eye lens are dependent upon a functional intermediate filament cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

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/10.1097%2FGIM.0B013E31822623D5

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/10.1097%2FGIM.0B013E31822623D5

The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

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/10.1097%2FGIM.0B013E31822623D5

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

Functional analysis of human mutations in homeodomain transcription factor PITX3

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

Homeodomain protein Pitx3 maintains the mitotic activity of lens epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31822623D5

10.1097/GIM.0B013E31822623D5

21 January 2018

Identifiers

DOI

1 reference

24 December 2017

Dimensions Publication ID

1041566360

0 references

Fatcat ID

release_vxqj2ioq5fbtbaibbc5b6l5gie

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vxqj2ioq5fbtbaibbc5b6l5gie

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

24 December 2017