Keith Foster

TL;DR: The isolated expression of stromelysin by smooth muscle cells may reflect local connective tissue remodeling associated with growth and the formation of the plaque, whereas the more extensive expression associated with macrophages may be of greater pathological significance, contributing to the destabilization of the extracellular matrix and eventual plaque rupture.

TL;DR: 94 VHL patients without large deletions for intragenic mutations using single strand conformation polymorphism and heteroduplex analysis are investigated and substitution of an arginine at codon 238 (Arg-->Trp or Arg-->Gln) was associated with a high risk of phaeochromocytoma.

TL;DR: Germline mutations of the von Hippel-Lindau (VHL) disease gene predispose to early onset and multifocal clear cell renal cell carcinoma, and the mechanism of tumorigenesis in VHL disease is consistent with a one-hit mutation model.

TL;DR: Although patients with PLAN have previously been diagnosed with infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome, they display a characteristic clinical and radiologic phenotype that will negate the need for more invasive diagnostic procedures such as tissue biopsy.

TL;DR: The results suggest that the V HL disease gene functions as a recessive tumour suppressor gene and that inactivation of both alleles of the VHL gene is the critical event in the pathogenesis of VHL neoplasms.