Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.V124E
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CRYAA

NM_000394.4:p.V124E

Associated Papers

Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model.

Jia ZK et al.

Zoological Research, 2021

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Cryoelectron microscopy analysis of small heat shock protein 16.5 (Hsp16.5) complexes with T4 lysozyme reveals the structural basis of multimode binding.

Shi J et al.

The Journal of Biological Chemistry, 2013

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

Mouse models of cataract.

Graw J

Journal of Genetics, 2009

AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.

Andley UP

Bmc Ophthalmology, 2009

Modulation of alpha-crystallin chaperone activity: a target to prevent or delay cataract?

Kumar PA et al.

Iubmb Life, 2009

Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).

Richter L et al.

American Journal of Medical Genetics. Part A, 2008

Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.

Andley UP

Expert Reviews in Molecular Medicine, 2006

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

Graw J et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2006

AlphaA-crystallin expression prevents gamma-crystallin insolubility and cataract formation in the zebrafish cloche mutant lens.

Goishi K et al.

Development (cambridge, England), 2006

The genetic and molecular basis of congenital eye defects.

Graw J

Nature Reviews. Genetics, 2003

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.

Mackay DS et al.

European Journal of Human Genetics : Ejhg, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."