As the home of cellular genetic information, the nucleus has a critical role in determining cell
fate and function in response to various signals and stimuli. In addition to biochemical …

Genomic instability is an important driver of ageing. The accumulation of DNA damage is
believed to contribute to ageing by inducing cell death, senescence and tissue dysfunction …

Hutchinson–Gilford progeria syndrome (HGPS or progeria) is typically caused by a
dominant-negative C• G-to-T• A mutation (c. 1824 C> T; p. G608G) in LMNA, the gene that …

Aging is a complex process that results in loss of the ability to reattain homeostasis following
stress, leading, thereby, to increased risk of morbidity and mortality. Many factors contribute …

Vascular calcification is associated with a significant increase in all-cause mortality and
atherosclerotic plaque rupture. Calcification has been determined to be an active process …

Senescence compromises the essential role that the endothelium plays in maintaining
vascular homeostasis, so promoting endothelial dysfunction and the development of age …

DNA methylation (DNAm)-based biomarkers of aging have been developed for many
tissues and organs. However, these biomarkers have sub-optimal accuracy in fibroblasts …

Aging is an inevitable outcome of life, characterized by progressive decline in tissue and
organ function and increased risk of mortality. Accumulating evidence links aging to genetic …

The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …

Exome and whole-genome sequencing are becoming increasingly routine approaches in
Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic …