Publication
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Publications associées (37)
The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation
Genes implicated in translation control have been associated with autism spectrum disorders (ASDs). However, some important genetic causes of autism, including the 16p11.2 microdeletion, bear no obvious connection to translation. Here, we use proteomics, g ...
Amer Assoc Advancement Science2024Whole genome doubling promotes tumorigenesis through loss of chromatin segregation and compartment repositioning
Whole genome doubling (WGD) events are drivers of genetic innovation across vertebrate evolution. While generally detrimental to mammalian organisms, WGDs are crucial in the development of various plants and fungi, as well as for the terminal differentiati ...
EPFL2023Histone acetylation dynamics modulates chromatin conformation and allele-specific interactions at oncogenic loci
Elisa Oricchio, Daniele Tavernari, Natalya Katanayeva, Stephanie Jocelyne Sungalee, Ruxandra-Andreea Lambuta, Giovanni Ciriello
In cancer cells, enhancer hijacking mediated by chromosomal alterations and/or increased deposition of acetylated histone H3 lysine 27 (H3K27ac) can support oncogene expression. However, how the chromatin conformation of enhancer-promoter interactions is a ...
2021The genetic architecture of complex human traits at the dawn of genomic medicine
The focus of the work presented in this thesis is the exploration of the genetic architecture of complex human traits - at the dawn of genomic medicine.
The underlying mechanisms explaining the enormously polygenic nature of most human complex traits are ...
EPFL2021