Lens development and crystallin gene expression

A Cvekl, R McGreal, W Liu - … in molecular biology and translational science, 2015 - Elsevier
The eye and lens represent excellent models to understand embryonic development at
cellular and molecular levels. Initial 3D formation of the eye depends on a reciprocal …

Imbalances in the eye lens proteome are linked to cataract formation

PWN Schmid, NCH Lim, C Peters, KC Back… - Nature Structural & …, 2021 - nature.com
The prevalent model for cataract formation in the eye lens posits that damaged crystallin
proteins form light-scattering aggregates. The α-crystallins are thought to counteract this …

Mouse models for microphthalmia, anophthalmia and cataracts

J Graw - Human genetics, 2019 - Springer
Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases,
because the absence of eyes, very small eyes and severely affected, cataractous eyes are …

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

LM Reis, RC Tyler, S Muheisen, V Raggio, L Salviati… - Human genetics, 2013 - Springer
Pediatric cataracts are observed in 1–15 per 10,000 births with 10–25% of cases attributed
to genetic causes; autosomal dominant inheritance is the most commonly observed pattern …

[HTML][HTML] Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population

W Tan, S Hou, Z Jiang, Z Hu, P Yang, J Ye - Molecular vision, 2011 - ncbi.nlm.nih.gov
Purpose: The gene for Eph-receptor tyrosinekinase-type A2 (EPHA2) has been shown to be
involved in the pathogenesis of age-related cataract (ARC). The aim of this study was to …

Population genomics of premature termination codons in cavefish with substantial trait loss

EY Roback, E Ferrufino, RL Moran… - Molecular Biology …, 2025 - academic.oup.com
Loss-of-function alleles are a pertinent source of genetic variation with the potential to
contribute to adaptation. Cave-adapted organisms exhibit striking loss of ancestral traits …

[HTML][HTML] Spectral domain-Optical coherence tomography (SD-OCT) as a monitoring tool for alterations in mouse lenses

D Pawliczek, C Dalke, H Fuchs, V Gailus-Durner… - Experimental eye …, 2020 - Elsevier
The eye lens displays a variety of phenotypes in the wake of genetic modifications or
environmental influences. Therefore, a high-resolution in vivo imaging method for the lens is …

Racial differences in lens opacity incidence and progression: the Salisbury Eye Evaluation (SEE) study

P Storey, B Munoz, D Friedman… - … Ophthalmology & Visual …, 2013 - iovs.arvojournals.org
Purpose.: To evaluate racial differences in nuclear and cortical lens opacity incidence and
progression over a 2-year period in an older American population. Methods.: Prospective …

New Mutation in the Mouse Xpd/Ercc2 Gene Leads to Recessive Cataracts

S Kunze, C Dalke, H Fuchs, M Klaften, U Rössler… - PLoS …, 2015 - journals.plos.org
Cataracts are the major eye disorder and have been associated mainly with mutations in
lens-specific genes, but cataracts are also frequently associated with complex syndromes. In …

RNA sequencing and bioinformatics analysis of human lens epithelial cells in age-related cataract

Z Wang, D Su, S Liu, G Zheng, G Zhang, T Cui, X Ma… - BMC …, 2021 - Springer
Background Age-related cataract (ARC) is the main cause of blindness in older individuals
but its specific pathogenic mechanism is unclear. This study aimed to identify differentially …