Karen White

TL;DR: The proposed role for ABCA4 in age-related macular degeneration (AMD), a common cause of late-onset blindness, is assessed by studying 200 affected individuals with late-stage disease and using a screening strategy based primarily on denaturing gradient gel electrophoresis.

TL;DR: The cloning and characterization of three members of the fatty acid desaturase (FADS) gene family in humans are reported and are likely to have arisen evolutionarily from gene duplication as they share a remarkably similar exon/intron organization.

TL;DR: The spectrum of VMD2 mutations in juvenile-onset vitelliform macular dystrophy is further characterised and four mutations found in the AVMD patients were also seen in Best disease suggesting a considerable overlap in the aetiology of these two disorders.

TL;DR: No evidence to support the involvement of aberrant CLDN1 in breast tumorigenesis is found in the sporadic tumors and hereditary breast cancer patients and in the breast cancer cell lines, no genetic alterations in the promoter or coding sequences have been identified that would explain the loss of CL DN1 expression.

TL;DR: Results of analysis in two large series of individuals with age‐related macular degeneration (AMD) suggest that VMD2 does not play a major role in this prevalent disorder.