Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

Article Abstract:

Variations in chromosome 21 gene-expression in Down syndrome were analyzed in lymphoblastoid cells derived from patients and control individuals. It is concluded that alternative transcripts belonging to the same gene are similarly regulated in Down syndrome but sense and antisense transcripts are not.

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Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

Article Abstract:

A study providing the first extensive data set on HSA21 gene expression variation in Down syndrome is presented. Results underscore its role in modulating the outcome of gene- dosage imbalance.

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Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single- nucleotide polymorphism related to phenotypes

Article Abstract:

The article describes that single nucleotide located in targets 3' untranslated region (UTR) of protein- coding genes can affect miRNA regulation.

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