Miguel Urioste

TL;DR: Older monozygous twins exhibited remarkable differences in their overall content and genomic distribution of 5-methylcytosine DNA and histone acetylation, affecting their gene-expression portrait, indicating how an appreciation of epigenetics is missing from the understanding of how different phenotypes can be originated from the same genotype.

TL;DR: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.

TL;DR: Phenotypic data from these and previously reported POLE/POLD1 carriers point to an associated phenotype characterized by attenuated or oligo-adenomatous colorectal polyposis, CRC, and probably brain tumors.

TL;DR: A paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme is described, which is revealed as a novel pheochromocytoma/paragangslioma susceptibility gene.

TL;DR: Functional and in vitro studies demonstrate that carriers of the identified mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomerre fragility.