Over the last two decades, the mutation of mitochondrial DNA (mtDNA) has emerged as a
major cause of inherited human disease. The disorders present clinically in at least 1 in 10 …

Summary Background Indian Asians, who make up a quarter of the world's population, are
at high risk of developing type 2 diabetes. We investigated whether DNA methylation is …

Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their
prevalence in the general population is not known. We determined the frequency of ten …

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …

Epigenetics encapsulates a group of molecular mechanisms including DNA methylation,
histone modification and microRNAs (miRNAs). Gestational diabetes (GDM) increases the …

Objective To use an in vitro model of chondrogenesis to identify microRNAs (miRNAs) with a
functional role in cartilage homeostasis. Methods The expression of miRNAs was measured …

Background Biological aging estimators derived from DNA methylation data are heritable
and correlate with morbidity and mortality. Consequently, identification of genetic and …

Background DNA methylation is strongly associated with smoking status at multiple sites
across the genome. Studies have largely been restricted to European origin individuals yet …

Epigenome-wide association studies (EWAS) seek to quantify associations between
traits/exposures and DNA methylation measured at thousands or millions of CpG sites …

In 2001, we described an autosomal dominant myopathy characterized by neuromuscular
ventilatory failure in ambulant patients. Here we describe the underlying genetic basis for …