Author

J. R. Tejedor

2 papers indexed here

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Open access Sep 2026

Patient-Derived Fibroblasts as a Clinically Relevant Model of Kearns-Sayre Syndrome.

OBJECTIVE Kearns-Sayre syndrome (KSS) is characterized by single large-scale mitochondrial DNA deletions and by severe early-onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking. We aimed to determine whether patient-d...

L. Valls-Roca, A. Vilaseca-Capel, Judith Cantó-Santos et al. · Annals of Neurology · 0 citations

Open access Aug 2026

Replicative history as a major determinant of epigenetic noise across human tissues

DNA methylation changes accumulate with age through both regulated and stochastic processes, yet the determinants of epigenetic information loss remain poorly defined. Using genome-wide DNA methylation profiles from 1,531 healthy human samples spanning 14 tissues, we quantified epigenetic noise by Shannon entropy and c...

A. Peñarroya, J. J. Alba-Linares, R. F. Pérez et al. · bioRxiv · 0 citations