Diseases associated with mitochondrial DNA (mtDNA) mutations are highly variable in
phenotype, in large part because of differences in the percentage of normal and mutant mtDNAs (…

Functional epigenetic regulation occurs by dynamic modification of chromatin, including
genetic material (ie, DNA methylation), histone proteins, and other nuclear proteins. Due to the …

The ten-eleven translocation 2 (TET2) protein, which oxidizes 5-methylcytosine in DNA, can
also bind RNA; however, the targets and function of TET2–RNA interactions in vivo are not …

Epigenetics has become a fundamental scientific discipline with various implications for
biology and medicine. Epigenetic marks, mostly DNA methylation and histone post-translational …

Next-generation sequencing (NGS) has instigated the research on the role of the microbiome
in health and disease. The compositional nature of such microbiome datasets makes it …

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis,
the role of germline mutations remains unreported. We analyze 46 patients bearing de novo …

After transcription, a messenger RNA (mRNA) is further post‐transcriptionally regulated by
several features including RNA secondary structure and covalent RNA modifications (…

Mitochondrial dysfunction can be associated with a range of clinical manifestations. Here,
we report a family with a complex phenotype including combinations of connective tissue, …

DNA and histone proteins define the structure and composition of chromatin. Histone
posttranslational modifications (PTMs) are covalent chemical groups capable of modeling …

Objectives According to the current guidelines for laboratory diagnosis of sexually transmitted
infections (STIs), nucleic acid amplification tests (NAATs) are the preferred diagnostic …