(Q35313157)

7 August 2017

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0). (English)

1 reference

7 August 2017

0 references

Francis P

1

1 reference

7 August 2017

Berry V

series ordinal

2

1 reference

7 August 2017

Bhattacharya S

series ordinal

3

1 reference

7 August 2017

Moore A

series ordinal

4

1 reference

7 August 2017

language of work or name

English

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publication date

1 December 2000

1 reference

British Journal of Ophthalmology

7 August 2017

1 reference

7 August 2017

84

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7 August 2017

12

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7 August 2017

1376-1379

1 reference

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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=1723363

Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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=1723363

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=1723363

Functional aspects of red cell antigens

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

Connexin46 mutations in autosomal dominant congenital 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=1723363

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=1723363

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=1723363

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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=1723363

The aquaporin family of water channel proteins in clinical medicine

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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=1723363

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene 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=1723363

Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by 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=1723363

Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

Phenotype i associated with congenital cataract in Japanese

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

Progress on the structure and function of aquaporin 1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

X-linked cataract and X-linked microphthalmos: how many deletion families?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1723363

X-Chromosomal-Linked Sutural Cataracts

26 September 2018

1 reference

12 December 2020

1 reference

12 December 2020

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.84.12.1376

1 reference

7 August 2017

1 reference

7 August 2017

1 reference