[HTML][HTML] Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
Refractive errors are common eye disorders of public health importance worldwide. Ocular
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia …
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia …
The water permeability of lens aquaporin-0 depends on its lipid bilayer environment
J Tong, JT Canty, MM Briggs, TJ McIntosh - Experimental eye research, 2013 - Elsevier
Abstract Aquaporin-0 (AQP0), the primary water channel in lens fiber cells, is critical to lens
development, organization, and function. In the avascular lens there is thought to be an …
development, organization, and function. In the avascular lens there is thought to be an …
Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300
L Wolf, W Harrison, J Huang, Q Xie, N Xiao… - Nucleic acids …, 2013 - academic.oup.com
Lens induction is a classical embryologic model to study cell fate determination. It has been
proposed earlier that specific changes in core histone modifications accompany the process …
proposed earlier that specific changes in core histone modifications accompany the process …
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion
SS Kumari, J Gandhi, MH Mustehsan, S Eren… - Experimental eye …, 2013 - Elsevier
Abstract Aquaporin 0 (AQP0) performs dual functions in the lens fiber cells, as a water pore
and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in …
and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in …
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract
GS Kumar, JW Kyle, PJ Minogue, KD Kumar… - Experimental eye …, 2013 - Elsevier
Autosomal dominant congenital cataracts have been associated with mutations of genes
encoding several soluble and membrane proteins. By candidate gene screening, we …
encoding several soluble and membrane proteins. By candidate gene screening, we …
[HTML][HTML] Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation
VM Berthoud, PJ Minogue, H Yu… - … & Visual Science, 2013 - jov.arvojournals.org
Purpose.: Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to
autosomal dominant congenital cataracts in several human pedigrees. To elucidate the lens …
autosomal dominant congenital cataracts in several human pedigrees. To elucidate the lens …
[HTML][HTML] A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family
L Zeng, W Liu, W Feng, X Wang, H Dang, L Gao… - Molecular …, 2013 - ncbi.nlm.nih.gov
Purpose To identify the disease-causing gene in a Chinese family with autosomal dominant
congenital cataract. Methods Clinical and ophthalmologic examinations were performed on …
congenital cataract. Methods Clinical and ophthalmologic examinations were performed on …
[HTML][HTML] Thermal Stress Induced Aggregation of Aquaporin 0 (AQP0) and Protection by α-Crystallin via Its Chaperone Function
Aquaporin 0 (AQP0) formerly known as membrane intrinsic protein (MIP), is expressed
exclusively in the lens during terminal differentiation of fiber cells. AQP0 plays an important …
exclusively in the lens during terminal differentiation of fiber cells. AQP0 plays an important …
[PDF][PDF] ARTICLE Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
JA Guggenheim, V Vitart, S MacGregor… - The American Journal …, 2013 - academia.edu
Refractive errors are common eye disorders of public health importance worldwide. Ocular
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia …
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia …
Reactions of long-lived lens proteins
B Lyons - 2013 - ses.library.usyd.edu.au
The human lens contains the highest protein concentration of any tissue in the body, yet
there is no protein turnover. As a result, proteins found in the centre of the lens (the nucleus) …
there is no protein turnover. As a result, proteins found in the centre of the lens (the nucleus) …