ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...

In recent years, the majority of additions to and deletions from S&P 500 index have been stocks that were previously or subsequently included in 400 index. The announcement returns these changes opposite what has documented for all an extensive literature. During 2016–2020, such ‘upward additions’ resulted average excess return -2.48% over a three-day period while ‘downward deletions’ +1.37%. W...

Deletions within the mitochondrial genome (mtDNA) have been repeatedly observed in photoaged skin and purported as a marker of photoaging. The is implicated many important cellular functions through regulation metabolome; thus mtDNA mutations are an appealing target to prevent or reverse aging-induced loss function. However, methodological limitations prevented complete understanding deletions,...

depending on the sensitivity of the method, deletions may be detected at the majority (60-65 %) of duchenne/becker muscular dystrophy (dmd/bmd) cases. duplications may be seen in approximately 5 -10% and the remaining mutations are point mutations, intronic deletions, exonic insersions of repetetive sequences and combinations of all. severity of the disease does not correlate with the size of t...