Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans (Q34113048)

31 July 2017

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Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans (English)

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31 July 2017

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posterior polar cataract

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Berry V

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31 July 2017

Francis P

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31 July 2017

Reddy MA

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31 July 2017

Collyer D

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31 July 2017

Vithana E

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31 July 2017

MacKay I

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31 July 2017

Dawson G

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31 July 2017

Carey AH

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31 July 2017

Moore A

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31 July 2017

Bhattacharya SS

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31 July 2017

Quinlan RA

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31 July 2017

language of work or name

English

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publication date

27 September 2001

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

1141-1145

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The genetics of childhood cataract

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

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

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

The gamma-crystallins and human cataracts: a puzzle made clearer

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Clinical and genetic heterogeneity in autosomal dominant cataract

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Connexin46 mutations in autosomal dominant congenital cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

NMR spectroscopy of alpha-crystallin. Insights into the structure, interactions and chaperone action of small heat-shock proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Genealogy of the alpha-crystallin--small heat-shock protein superfamily

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Cloning, expression, and chaperone-like activity of human alphaA-crystallin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Effects of site-directed mutations on the chaperone-like activity of alphaB-crystallin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Structure and modifications of the junior chaperone alpha-crystallin. From lens transparency to molecular pathology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Autosomal dominant congenital cataract. Morphology and genetic mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Vertebrate lens alpha-crystallins are modified by O-linked N-acetylglucosamine

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Alpha-crystallin can function as a molecular chaperone

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Identification of the posttranslational modifications of bovine lens αB‐crystallins by mass spectrometry

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Gene localization for aculeiform cataract, on chromosome 2q33-35.

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Release of alpha-A sequence 158-173 correlates with a decrease in the molecular chaperone properties of native alpha-crystallin.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274358

Short-range order of crystallin proteins accounts for eye lens transparency

28 October 2018

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12 December 2020

The phosphorylation sites of the B2 chain of bovine alpha-crystallin

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12 December 2020

Post-translational modifications of eye lens crystallins: crosslinking, phosphorylation and deamidation

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12 December 2020

In Vivo Modification of the C-Terminal Lysine of Human Lens αB-Crystallin

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12 December 2020

Fatal attraction: when chaperone turns harlot

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12 December 2020

Identifiers

DOI

10.1086/324158

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31 July 2017

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31 July 2017

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