Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.V76D
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CRYGD

NM_006891.4:p.V76D

Associated Papers

Zebrafish as a model for crystallin-associated congenital cataracts in humans.

Rossen JL et al.

Frontiers in Cell and Developmental Biology, 2025

α-Crystallins in the Vertebrate Eye Lens: Complex Oligomers and Molecular Chaperones.

Sprague-Piercy MA et al.

Annual Review of Physical Chemistry, 2021

Imbalances in the eye lens proteome are linked to cataract formation.

Schmid PWN et al.

Nature Structural & Molecular Biology, 2021

Human αB-crystallin discriminates between aggregation-prone and function-preserving variants of a client protein.

Sprague-Piercy MA et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Focus on lens connexins.

Berthoud VM et al.

Bmc Cell Biology, 2017

Expression of Cataract-linked γ-Crystallin Variants in Zebrafish Reveals a Proteostasis Network That Senses Protein Stability.

Wu SY et al.

The Journal of Biological Chemistry, 2016

Group II archaeal chaperonin recognition of partially folded human γD-crystallin mutants.

Sergeeva OA et al.

Protein Science : a Publication of the Protein Society, 2014

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain.

Johnson AC et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2013

Structural and aggregation behavior of the human γD-crystallin mutant E107A, associated with congenital nuclear cataract.

Vendra VP et al.

Molecular Vision, 2010

GammaD-crystallin associated protein aggregation and lens fiber cell denucleation.

Wang K et al.

Investigative Ophthalmology & Visual Science, 2007

Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis.

Takahasi KR et al.

Bmc Molecular Biology, 2007

17584492 (PubMed )
Supplement: 1471-2199-8-52-S1.pdf

Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse.

Graw J et al.

Investigative Ophthalmology & Visual Science, 2004

Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract.

Graw J et al.

Genetics, 2002

A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse.

Graw J et al.

Investigative Ophthalmology & Visual Science, 2002

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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