Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q. (Q38270869)

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7 January 2020

title

Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q (English)

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7 January 2020

author name string

Frantisek Liska

1

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7 January 2020

Blanka Chylíková

2

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7 January 2020

Jindrich Martínek

3

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7 January 2020

Vladimír Kren

4

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7 January 2020

publication date

7 May 2008

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7 January 2020

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7 January 2020

volume

14

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7 January 2020

page(s)

823-828

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Insights into the beaded filament of the eye lens

7 January 2020

cites work

1 reference

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Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy

6 September 2017

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Vascular gap junctions in hypertension

6 September 2017

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A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract

6 September 2017

1 reference

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Congenital hereditary cataracts

6 September 2017

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HSF4 is required for normal cell growth and differentiation during mouse lens development

6 September 2017

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Genetics of childhood cataract

6 September 2017

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A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

6 September 2017

1 reference

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Dominant cataracts result from incongruous mixing of wild-type lens connexins

6 September 2017

1 reference

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Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation

6 September 2017

1 reference

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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

6 September 2017

1 reference

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Map Manager QTX, cross-platform software for genetic mapping

6 September 2017

1 reference

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Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin 32

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Primer3 on the WWW for general users and for biologist programmers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Disruption of α3 Connexin Gene Leads to Proteolysis and Cataractogenesis in Mice

6 September 2017

1 reference

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Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: the second extracellular domain is a determinant of compatibility between connexins

6 September 2017

1 reference

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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Mapping of A gene responsible for cataract formation and its modifier in the UPL rat.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373795

Genetic analysis of cataract in Ihara epileptic rat

3 December 2018

1 reference

12 December 2020

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

1 reference

12 December 2020

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

1 reference

12 December 2020

Gap junctions containing alpha8-connexin (MP70) in the adult mammalian lens epithelium suggests a re-evaluation of its role in the lens

1 reference

12 December 2020

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1 reference

12 December 2020

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470322%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

18470322

1 reference