MOLECULAR PATHOLOGY OF EYES WITH VON HIPPEL–LINDAU (VHL) DISEASE

Molecular pathology of Alzheimer's disease.

Alzheimer's disease is the fourth major cause of death in the developed world and is a major social and health care issue. Recent molecular genetic research has shed new light on the pathogenesis of this debilitating condition.

von-Hippel Lindau (VHL) hereditary cancer syndrome

Inactivating germline von Hippel–Lindau (VHL) mutations

| The von Hippel–Lindau disease is caused by inactivating germline mutations of the VHL tumour suppressor gene and is associated with an increased risk of a variety of tumours in an allele-specific manner. The role of the heterodimeric transcription factor hypoxia-inducible factor (HIF) in the pathogenesis of VHL-defective tumours has been more firmly established during the past 5 years. In add...

Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.

PURPOSE von Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype-phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL disease. METHODS Participants with clinically defined VHL disease and documented germline missense ...

Pathology of the Nervous System in Von Hippel-Lindau Disease

Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactiva...