(Q62127831)

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1 January 2020

case report

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title

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

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1 January 2020

5

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1 January 2020

author name string

Surya Prakash G Ponnam

1

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1 January 2020

Kekunnaya Ramesha

2

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1 January 2020

Sushma Tejwani

3

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1 January 2020

Balasubramanya Ramamurthy

4

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1 January 2020

language of work or name

English

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publication date

1 July 2007

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Journal of Medical Genetics

1 January 2020

published in

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1 January 2020

volume

44

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1 January 2020

issue

7

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1 January 2020

page(s)

e85

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

1 January 2020

cites work

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12 December 2020

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

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12 December 2020

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

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12 December 2020

Dominant cataracts result from incongruous mixing of wild-type lens connexins

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12 December 2020

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

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12 December 2020

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts

1 reference

12 December 2020

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract

1 reference

12 December 2020

Identification of a 70,000-D protein in lens membrane junctional domains

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Aetiology of childhood cataract in south India

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12 December 2020

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

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12 December 2020

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

1 reference

12 December 2020

Population-based assessment of childhood blindness in southern India

1 reference

12 December 2020

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

1 reference

12 December 2020

Connexin46 mutations in autosomal dominant congenital cataract

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12 December 2020

Molecular mechanism underlying a Cx50-linked congenital cataract.

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12 December 2020

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

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

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

1 reference

12 December 2020

An aberrant sequence in a connexin46 mutant underlies congenital cataracts.

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Functional characterization of a naturally occurring Cx50 truncation

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12 December 2020

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

1 reference

12 December 2020

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2007.050138

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1 January 2020

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1 January 2020

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