Linked Life Data

10221049

Source:http://linkedlifedata.com/resource/pubmed/id/10221049

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1999-5-18
pubmed:abstractText
The growing knowledge of the molecular anatomy of the human genome and the mechanisms of the gene expression, together with recent advances in molecular epidemiology, have nurtured an entirely different view of the complex relationships between genes and phenotype. This review begins with a brief description of the different types of molecular lesion that may occur in a particular gene sequence as well as the biological consequences that they originate. Then, a "molecular view" of various concepts of classical genetics is presented: dominance and recessiveness are discussed as a problem of cellular homeostasis whereas gene penetrance and expressivity are viewed as problems of variability, gene connectivity and functional pleiotropism. Based on these concepts a few final remarks focus on the relationship between genes and the environment and its enormous impact in the genesis of polygenic and multifactorial disorders.
pubmed:language
por
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0870-2551
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
181-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
[From the genotype to the phenotype].
pubmed:affiliation
Instituto de Histologia e Embriologia, Faculdade de Medicina de Lisboa. hleonor@fml.ul.pt
pubmed:publicationType
English Abstract, Addresses