Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice (Q34188418)

31 July 2017

title

Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice (English)

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31 July 2017

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Tadashi Okamura

1

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31 July 2017

Ichiro Miyoshi

2

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31 July 2017

Kazuhiro Takahashi

3

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31 July 2017

Yasumasa Mototani

4

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31 July 2017

Sadao Ishigaki

5

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31 July 2017

Yasuhiro Kon

6

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31 July 2017

Noriyuki Kasai

7

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31 July 2017

publication date

1 April 2003

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31 July 2017

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31 July 2017

volume

81

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31 July 2017

issue

4

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31 July 2017

page(s)

361-368

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https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

31 July 2017

1 reference

7 January 2021

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

1 reference

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

The gamma-crystallins and human cataracts: a puzzle made clearer

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Prediction of functional residues in water channels and related proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloning

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Expression of the gene for main intrinsic polypeptide (MIP): separate spatial distributions of MIP and beta-crystallin gene transcripts in rat lens development

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

pH and calcium regulate the water permeability of aquaporin 0.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

A comparison of lens development in normal mice and in mice with hereditary cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

An in vivo and in vitro study of the embryonic and adult lop mutant congenital cataractous lens

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Chicken beta B1 crystallin: gene sequence and evidence for functional conservation of promoter activity between chicken and mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Developmental regulation of the chicken beta B1-crystallin promoter in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Tissue-specific and developmental expression of human transthyretin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Characterisation of the major intrinsic protein (MIP) from bovine lens fibre membranes by electron microscopy and hydrodynamics

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

A gene location for the inheritance of the cataract Fraser (CatFr) mouse congenital cataract

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

A Macintosh program for storage and analysis of experimental genetic mapping data

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

Targeted pituitary tumorigenesis using the human thyrotropin beta-subunit chain promoter in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900029-6

7 January 2021

10.1016/S0888-7543(03)00029-6

Identifiers

DOI

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31 July 2017

1 reference