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- W2392948415 abstract "The mechanism leading to mental retardation in Down syndrome is the overdosage of the chromosome 21 genes determining the expression imbalance; which are explained by two hypotheses, the gene dosage effecthypothesis and the amplified developmental instabilityhypothesis. The gene dosage hypothesis claims that the phenotype is a direct result of the cumulative effects of the dosage imbalance of a subset of dosage-sensitive genes located on the triplicated chromosomal region. Theamplified developmental instability hypothesis holds that dosage imbalance of the hundreds of genes on chromosome 21 determines a disturbance of genomic regulation and expression, and determines general alteration in developmental homeostasis. Rachidi proposed a global molecular and cellular mechanism model leading to mental retardation in Down syndrome. The direct effect of the altered expression in the brain determines different primary phenotypes. The resultant of these phenotypes determines the more complex terminal phenotypes, leading to mental retardation." @default.
- W2392948415 created "2016-06-24" @default.
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- W2392948415 date "2009-01-01" @default.
- W2392948415 modified "2023-09-28" @default.
- W2392948415 title "Molecular and Cellular Mechanisms of Mental Retardation in Down Syndrome" @default.
- W2392948415 hasPublicationYear "2009" @default.
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