Fabio Puddu

DNMT1-Mediated Epigenetic Reprogramming Drives KMT2A Amplifications and Rearrangements

The paper identifies a DNA-histone methylation axis that drives KMT2A amplifications and rearrangements in leukemia, revealing therapeutic targets.

Advancing Neurological Liquid Biopsy via Six-Base Sequencing of Cerebrospinal Fluid Cell-Free DNA

This paper uses 6-base sequencing to analyze DNA modifications in cerebrospinal fluid cell-free DNA, providing insights into neurodegenerative biology for liquid biopsy applications.

5-methylcytosine and 5-hydroxymethylcytosine are synergistic biomarkers for early detection of colorectal cancer

This study shows that combining 5mC and 5hmC measurements improves early CRC detection accuracy compared to conflated markers.

Temporally discordant chromatin accessibility and DNA demethylation define short and long-term enhancer regulation during cell fate specification

The paper shows that chromatin accessibility and DNA demethylation occur at different times during enhancer regulation, with methylation states predicting chromatin dynamics using machine learning.

OGT prevents DNA demethylation and suppresses the expression of transposable elements in heterochromatin by restraining TET activity genome-wide

This study shows that OGT inhibits TET activity, preventing DNA demethylation and transposable element expression in heterochromatin.

Mutagenic mechanisms of cancer-associated DNA polymerase ε alleles

The paper investigates mutagenic mechanisms of cancer-associated DNA polymerase ε alleles, showing that exonuclease domain mutations cause ultra-mutagenesis with mutation patterns similar to cancer Signature 14.

Detection of functional protein domains by unbiased genome-wide forward genetic screening

This paper describes a method to detect functional protein domains by identifying suppressor mutations in yeast and mouse cells, revealing insights into protein function and drug resistance mechanisms.