(Q36479042)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

0 references

Vanita Vanita

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Jai Rup Singh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Daljit Singh

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Raymonda Varon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Karl Sperling

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

publication date

9 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

323-326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

4 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Connexins in lens development and cataractogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

CRYBB1 mutation associated with congenital cataract and microcornea

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Gap junctions: structure and function (Review).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Structural and functional diversity of connexin genes in the mouse and human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Unique and redundant connexin contributions to lens development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Connexin46 mutations in autosomal dominant congenital cataract

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Diverse functions of vertebrate gap junctions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Connections with connexins: the molecular basis of direct intercellular signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

The gap junction communication channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

The crystalline lens. A system networked by gap junctional intercellular communication

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Expression of the gap junction protein connexin43 in embryonic chick lens: molecular cloning, ultrastructural localization, and post-translational phosphorylation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Aetiology of congenital and paediatric cataract in an Australian population

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Molecular mechanism underlying a Cx50-linked congenital cataract.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2255026

Genetic and segregation analysis of congenital cataract in the Indian population

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18334946

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18334946

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18334946

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334946%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference