A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q (Q24316327)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497259 AND SRC:MED&resulttype=core&format=json

10 November 2019

title

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

1 reference

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10 November 2019

2

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10 November 2019

author name string

A Shiels

1

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10 November 2019

A Ionides

3

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10 November 2019

V Berry

4

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10 November 2019

A Moore

5

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10 November 2019

S Bhattacharya

6

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10 November 2019

language of work or name

English

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publication date

1 March 1998

1 reference

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American Journal of Human Genetics

10 November 2019

published in

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10 November 2019

volume

62

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10 November 2019

issue

3

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10 November 2019

page(s)

526-532

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A new locus for dominant "zonular pulverulent" cataract, on chromosome 13

10 November 2019

cites work

1 reference

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

19 March 2017

1 reference

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The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping

19 March 2017

1 reference

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Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

19 March 2017

1 reference

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A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22

19 March 2017

1 reference

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Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

19 March 2017

1 reference

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Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19)

19 March 2017

1 reference

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

19 March 2017

1 reference

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Strategies for multilocus linkage analysis in humans

19 March 2017

1 reference

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Molecular cloning of sheep connexin49 and its identity with MP70.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

The gap junction communication channel

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Molecular cloning and functional characterization of chick lens fiber connexin 45.6.

27 September 2017

1 reference

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Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

27 September 2017

1 reference

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Probable assignment of the Duffy blood group locus to chromosome 1 in man

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Autosomal dominant congenital cataract. Morphology and genetic mapping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Deletion mutation in an eye lens beta-crystallin. An animal model for inherited cataracts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

A frameshift mutation in the gamma E-crystallin gene of the Elo mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Autosomal dominant congenital cataract. Interocular phenotypic variability.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Doyne's Discoid Cataract (Coppock).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376956

Identification of a proline residue as a transduction element involved in voltage gating of gap junctions

29 November 2018

1 reference

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Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract

29 November 2018

1 reference

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A progressive early onset cataract gene maps to human chromosome 17q24.

29 November 2018

1 reference

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A locus for autosomal dominant anterior polar cataract on chromosome 17p

29 November 2018

1 reference

12 December 2020

Confirmation of Duffy blood group antigen locus (FY) at 1q22-->q23 by fluorescence in situ hybridization

1 reference

12 December 2020

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

1 reference

12 December 2020

A locus for autosomal dominant posterior polar cataract on chromosome 1p

1 reference

12 December 2020

1 reference

12 December 2020

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

1 reference

12 December 2020

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1 reference

12 December 2020

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

1 reference

12 December 2020

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

12 December 2020

PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS

1 reference

12 December 2020

Identifiers

DOI

10.1086/301762

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497259 AND SRC:MED&resulttype=core&format=json

release_yxclhqeegngxbix42tzeuvmkji

10 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yxclhqeegngxbix42tzeuvmkji

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497259 AND SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

9497259

2 references