(Q37346452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

Gap junction protein alpha 8

7 February 2020

main subject

1 reference

gap junction-mediated intercellular transport

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Eric C. Beyer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

6

Norman Klopp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Jochen Graw

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Werner Schmidt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Peter J Minogue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jessica Rodriguez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jun-Jie Tong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Lisa Ebihara

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Viviana M Berthoud

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Thomas Illig

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

14 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

1881-1885

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19756179%20AND%20SRC:MED&resulttype=core&format=json

Oxidative stress, lens gap junctions, and cataracts

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

A novel GJA8 mutation causing a recessive triangular cataract.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Congenital cataracts and their molecular genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Functional characterization of a naturally occurring Cx50 truncation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

An aberrant sequence in a connexin46 mutant underlies congenital 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=2743802

Exchange of gating properties between rat cx46 and chicken cx45.6.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

The genetic and molecular basis of congenital eye 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=2743802

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital 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=2743802

Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Connexin46 mutations in autosomal dominant congenital cataract

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Distinct behavior of connexin56 and connexin46 gap junctional channels can be predicted from the behavior of their hemi-gap-junctional channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

A simple salting out procedure for extracting DNA from human nucleated cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Loss of function and impaired degradation of a cataract-associated mutant connexin50.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Spatial differences in gap junction gating in the lens are a consequence of connexin cleavage.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Expression of gap junctional proteins in Xenopus oocyte pairs.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2743802

The Endotoxin Receptor TLR4 Polymorphism Is Not Associated With Diabetes or Components of the Metabolic Syndrome

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19756179

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19756179

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:19756179%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

19756179

1 reference