École pratique des hautes études

About: École pratique des hautes études is a education organization based out in Paris, France. It is known for research contribution in the topics: Population & Coral reef. The organization has 2031 authors who have published 2671 publications receiving 78035 citations. The organization is also known as: EPHE & École des hautes études.

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

Abstract: Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.

Confronting the coral reef crisis

Abstract: The worldwide decline of coral reefs calls for an urgent reassessment of current management practices. Confronting large-scale crises requires a major scaling-up of management efforts based on an improved understanding of the ecological processes that underlie reef resilience. Managing for improved resilience, incorporating the role of human activity in shaping ecosystems, provides a basis for coping with uncertainty, future changes and ecological surprises. Here we review the ecological roles of critical functional groups (for both corals and reef fishes) that are fundamental to understanding resilience and avoiding phase shifts from coral dominance to less desirable, degraded ecosystems. We identify striking biogeographic differences in the species richness and composition of functional groups, which highlight the vulnerability of Caribbean reef ecosystems. These findings have profound implications for restoration of degraded reefs, management of fisheries, and the focus on marine protected areas and biodiversity hotspots as priorities for conservation.

The genetic defect causing familial Alzheimer's disease maps on chromosome 21

Abstract: Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.