Familial combined hyperlipidaemia: how can genetic disorders be common, complex and comprehensible?
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Commentary proposing a disease model of familial combined hyperlipidaemia; a clinical-genetics topic.
It is a letter discussing familial hyperlipidaemia biology, not research itself.
Letter proposing a multi-gene model of familial combined hyperlipidaemia; clinical commentary, not metaresearch.
Résumé
FCHL (familial combined hyperlipidaemia) is characterized by multiple phenotypes that are shaped by genes, the environment and time. A longitudinal study by Brouwers and co-workers, which appears in this issue of Clinical Science, points to the central role of the liver in defining the FCHL phenotypes and demonstrates how they vary over time in relation to energy excess. On the basis of their work and that of others, we propose that FCHL is a multiple gene/multiple pathway/multiple phenotype disease. The key feature of this model of common complex disease is that it posits testable faults in definable metabolic pathways, which supply the genetic underpinning of the disorder.
Conservé avec la notice de tri, où il sert de preuve aux étiquettes ci-dessus.
La notice
- Revue
- Clinical Science
- Thématique
- Lipid metabolism and disorders
- Domaine
- Medicine
- Établissements canadiens
- McGill University
- Organismes subventionnaires
- —
- Mots-clés
- PhenotypeDiseaseComplex diseaseClinical phenotypeGeneticsBiologyGeneUnderpinningBioinformaticsComputational biologyMedicineInternal medicine
- Résumé présent dans OpenAlex
- oui