Ontology highlight
ABSTRACT:
SUBMITTER: Elias PM
PROVIDER: S-EPMC3117009 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Elias Peter M PM Crumrine Debra D Paller Amy A Rodriguez-Martin Marina M Williams Mary L ML
Dermato-endocrinology 20110401 2
Molecular geneticists tend to conceptualize disease pathogenesis from the mutated gene outward, an approach that does not take into account the impact of barrier requirements in determining disease phenotype. An 'outside-to-inside' perspective has provided quite different explanations for the ichthyoses, including several of the disorders of distal cholesterol metabolism. Elucidation of responsible pathogenic mechanisms also is pointing to appropriate, pathogenesis (pathway)-based therapeutic st ...[more]