Cellular signaling mediated by Notch receptors results in coordinated regulation of cell growth, survival and differentiation. In melanocytes, Notch signaling is essential for the maintenance of melanocytes and the melanocyte stem cell population. Whereas, ...
Visual comfort is important to the wellbeing of people and their productivity. However, too much light in the field of view can cause discomfort and disability glare. Under certain conditions it can even cause accidents. This paper addresses the disability ...
Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...
Glaucoma is an irreversible disease affecting the eye, leading to progressive loss of vision and eventually to total blindness. It is often related to high intraocular pressure (IOP), which results from increased outflow resistance to aqueous humor. The fi ...
Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family fro ...
Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and gl ...
The importance of light not only as a therapeutic tool but as an essential element of healthy living has been highlighted by the recent discovery of a specialized photoreceptor in the eye responsible for synchronizing our internal circadian pacemaker. This ...
Background Surgery of radiation-induced cataracts in children with retinoblastoma (RB) is a challenge as early intervention is weighted against the need to delay surgery until complete tumour control is obtained. This study analyses the safety and function ...
PURPOSE. Knowledge of genetic factors predisposing to age-related cataract is very limited. The aim of this study was to identify DNA sequences that either lead to or predispose for this disease. ...
We present a study of binary mixtures of eye lens crystallin proteins. A coarse-grained model of aqueous aand γ-crystallin mixtures based on molecular dynamics simulations and SANS experiments is proposed. Thermodynamic perturbation theory is implemented t ...
