Glucose 6-phosphate dehydrogenase variants: Gd (+) Alexandra associated with neonatal jaundice and Gd (-) Camperdown in a young man with lamellar cataracts.
These results do not define a clear cataract-SORD deficiency etiopathogenic relationship, nevertheless, they strongly suggest activity polymorphism in human red cell SORD, which would be highly relevant not only to the study of cataracts but of other major complications in diabetes.
Erythrocyte galactokinase activity was measured from 95 normal Caucasian subjects and from 39 Caucasian patients who had developed idiopathic bilateral cataracts between ages 20 and 55.
An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation.
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.
To settle this issue we developed transgenic mice that overexpress AR in their lens epithelial cells and found that they become susceptible to the development of diabetic and galactose cataracts.
This experiment was conducted to investigate the possible association between an increased frequency of glutathione-S-transferase (GST)1 gene deletion and the presence of cataracts in elderly patients.
This experiment was conducted to investigate the possible association between an increased frequency of glutathione-S-transferase (GST)1 gene deletion and the presence of cataracts in elderly patients.
This experiment was conducted to investigate the possible association between an increased frequency of glutathione-S-transferase (GST)1 gene deletion and the presence of cataracts in elderly patients.
This experiment was conducted to investigate the possible association between an increased frequency of glutathione-S-transferase (GST)1 gene deletion and the presence of cataracts in elderly patients.
Seven-week-old hAR-Tg mice fed a 20% galactose diet for 7 days developed cataracts and occlusion of the retinochoroidal vessels, in addition to pathological changes in the kidney.
These data help explain the high enzymatic activity of calpain II in young rat lens, susceptibility of young rat lens to a variety of cataracts showing increased calcium and calpain-induced proteolysis, and low calpain enzyme activity in human lens.
These data strongly suggest a role for PITX3 in ASMD and cataracts and provide new evidence of the contribution of the RIEG/PITX gene family to the developmental program underpinning normal eye formation.
Expression of mRNAs for TGF-beta1, TGF-beta2, TGF-beta receptor type II, and connective tissue growth factor (CTGF) was significantly greater in anterior polar type than in nuclear type cataracts.
The levels of fibronectin, type I collagen, and alpha-smooth muscle actin (SMA) mRNAs were higher in LECs from patients with anterior polar cataracts than in those from patients with nuclear cataracts.