Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.V64A
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GJA8

NM_005267.5:p.V64A

Associated Papers

Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.

Shen J et al.

Investigative Ophthalmology & Visual Science, 2023

37294706 (PubMed )
Supplement: iovs-64-7-18_s002.pdf

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Clinical and experimental advances in congenital and paediatric cataracts.

Churchill A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011

Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

Jiang JX

Current Molecular Medicine, 2010

The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.

DeRosa AM et al.

Experimental Cell Research, 2009

A novel GJA8 mutation causing a recessive triangular cataract.

Schmidt W et al.

Molecular Vision, 2008

Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.

Liska F et al.

Molecular Vision, 2008

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Guleria K et al.

Molecular Vision, 2007

Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation.

Xia CH et al.

Journal of Cell Science, 2006

Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.

Xia CH et al.

Development (cambridge, England), 2006

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