Using stem cell technology, next-generation DNA sequencing and computer tools, researchers at the Gladstone Institutes in California, and other academic centers, have mapped how a heart becomes a heart, revealing a genomic and epigenomic blueprint f ... ...
Melanoma is the most dangerous type of skin cancer and is the leading cause of death from skin disease. Rates are steadily increasing, and although risk increases with age, melanoma is now frequently seen in young people. But what if we could pinpoi ... ...
Several years ago, biologists discovered that regular body cells can be reprogrammed into pluripotent stem cells - cells with the ability to become any other type of cell. Such cells hold great promise for treating many human diseases... ... ...
DNA consists of regions called exons, which code for the synthesis of proteins, interspersed with noncoding regions called introns. Being able to predict the different regions in a new and unannotated genome is one of the biggest challenges facing bi ... ...
Scritto da Journal of Medical Genetics current issue
Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal region contribute to two distinct imprinting disord ... ...
Scritto da Journal of Medical Genetics current issue
Background and objective
Much progress has been made in determining loci where gene expression at the steady-state mRNA level is controlled by genetic variants in cis. However, mRNA is only a proxy for what matters in phenoty ... ...
Scritto da Journal of Medical Genetics current issue
Background
Single nucleotide polymorphisms (SNPs) rs429358 (4) and rs7412 (2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sc ... ...