期刊
BEHAVIOR GENETICS
卷 36, 期 3, 页码 416-428出版社
SPRINGER
DOI: 10.1007/s10519-006-9053-z
关键词
chromosome 21; Down syndrome; mental retardation; transcriptome
In the era of human functional genomics, the chromosome 21 has represented a prototype for pioneering global biotechnologies. Its relatively low gene content enabled studying Down syndrome at the chromosomal scale, for which the last years have seen intense research activity aiming at genotype-phenotype correlations. The global gene-dose dependent upregulation of gene expression seen in the context of trisomy and preliminary functional annotation of chromosome 21 genes points towards candidate genes and molecular pathways potentially associated with the cognitive defects observed in Down syndrome.
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