Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. (Q35591625)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14693780 AND SRC:MED&resulttype=core&format=json

16 November 2019

title

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations (English)

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16 November 2019

1

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16 November 2019

David A. Mackey

3

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16 November 2019

James E. Elder

6

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16 November 2019

Joanne L Dickinson

7

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16 November 2019

5

J E Craig

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16 November 2019

author name string

M G Wirth

2

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16 November 2019

I M Russell-Eggitt

4

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16 November 2019

M M Sale

8

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16 November 2019

language of work or name

English

0 references

publication date

1 January 2004

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British Journal of Ophthalmology

16 November 2019

published in

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16 November 2019

volume

88

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16 November 2019

issue

1

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16 November 2019

page(s)

79-83

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Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

16 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Clinical and genetic heterogeneity in autosomal dominant cataract

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Lens biology: development and human cataractogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

The elusive role of the N-terminal extension of beta A3- and beta A1-crystallin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Faster sequential genetic linkage computations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Computer-simulation methods in human linkage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Whole genome amplification from a single cell: implications for genetic analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

Aetiology of congenital and paediatric cataract in an Australian population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771940

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14693780

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The second human beta B2-crystallin gene is a pseudogene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14693780

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.88.1.79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14693780 AND SRC:MED&resulttype=core&format=json

16 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14693780 AND SRC:MED&resulttype=core&format=json

16 November 2019

PubMed publication ID

14693780

1 reference