Biology of inherited cataracts and opportunities for treatment

A Shiels, JF Hejtmancik - Annual review of vision science, 2019 - annualreviews.org
Cataract, the clinical correlate of opacity or light scattering in the eye lens, is usually caused
by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the …

Congenital cataracts and their molecular genetics

JF Hejtmancik - Seminars in cell & developmental biology, 2008 - Elsevier
Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is
particularly serious because it has the potential for inhibiting visual development, resulting in …

Regulation of the mammalian heat shock factor 1

S Dayalan Naidu, AT Dinkova‐Kostova - The FEBS journal, 2017 - Wiley Online Library
Living organisms are endowed with the capability to tackle various forms of cellular stress
due to the presence of molecular chaperone machinery complexes that are ubiquitous …

Signaling and gene regulatory networks in mammalian lens development

A Cvekl, X Zhang - Trends in Genetics, 2017 - cell.com
Ocular lens development represents an advantageous system in which to study regulatory
mechanisms governing cell fate decisions, extracellular signaling, cell and tissue …

Inherited cataracts: Genetic mechanisms and pathways new and old

A Shiels, JF Hejtmancik - Experimental eye research, 2021 - Elsevier
Cataract (s) is the clinical equivalent of lens opacity and is caused by light scattering either
by high molecular weight protein aggregates in lens cells or disruption of the lens …

Mutations in FYCO1 cause autosomal-recessive congenital cataracts

J Chen, Z Ma, X Jiao, R Fariss, WL Kantorow… - The American Journal of …, 2011 - cell.com
Congenital cataracts (CCs), responsible for about one-third of blindness in infants, are a
major cause of vision loss in children worldwide. Autosomal-recessive congenital cataracts …

Genetic origins of cataract

A Shiels, JF Hejtmancik - Archives of ophthalmology, 2007 - jamanetwork.com
Cataract, which can be defined as any opacity of the crystalline lens, results when the
refractive index of the lens varies significantly over distances approximating the wave-length …

[HTML][HTML] Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

N Caminsky, EJ Mucaki, PK Rogan - F1000Research, 2014 - ncbi.nlm.nih.gov
The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

Inherited congenital cataract: a guide to suspect the genetic etiology in the cataract genesis

O Messina-Baas, SA Cuevas-Covarrubias - Molecular syndromology, 2017 - karger.com
Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital
cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form …

Clinical and experimental advances in congenital and paediatric cataracts

A Churchill, J Graw - … Transactions of the Royal Society B …, 2011 - royalsocietypublishing.org
Cataracts (opacities of the lens) are frequent in the elderly, but rare in paediatric practice.
Congenital cataracts (in industrialized countries) are mainly caused by mutations affecting …