Publication
GOLPH3 and oncogenesis: What is the molecular link?
Publications associées (33)
Single-mitosis dissection of acute and chronic DNA mutagenesis and repair
How chronic mutational processes and punctuated bursts of DNA damage drive evolution of the cancer genome is poorly understood. Here, we demonstrate a strategy to disentangle and quantify distinct mechanisms underlying genome evolution in single cells, dur ...
Nature Portfolio2024Landscapes of DNA Mechanics and Genomes
The local physical properties - such as shape and flexibility - of the DNA double-helix is today widely believed to be influenced by nucleic acid sequence in a non-trivial way. Furthermore, there is strong evidence that these properties play a role in many ...
EPFL2023GRASP55 regulates intra-Golgi localization of glycosylation enzymes to control glycosphingolipid biosynthesis
Giovanni D'Angelo, Charlotte Julie Caroline Gehin, Laura Capolupo, Riccardo Rizzo
The Golgi apparatus, the main glycosylation station of the cell, consists of a stack of discontinuous cisternae. Glycosylation enzymes are usually concentrated in one or two specific cisternae along the cis-trans axis of the organelle. How such compartment ...
WILEY2021DNA repair protein Rad18 restricts LINE-1 mobility
Long interspersed element-1 (LINE-1, L1) is a mobile genetic element comprising about 17% of the human genome. L1 utilizes an endonuclease to insert L1 cDNA into the target genomic DNA, which induces double-strand DNA breaks in the human genome and activat ...
NATURE PUBLISHING GROUP2018Genomic targets and molecular partners of the chromatin regulator KAP1
KAP1 is an enigmatic regulatory protein, first described some twenty years ago, shown to be involved in multiple and diverse cellular functions. Specifically, it mediates tasks critical to cell growth and differentiation, pluripotency, apoptosis, gene sile ...
EPFL2017SNP2TFBS - a database of regulatory SNPs affecting predicted transcription factor binding site affinity
Giovanna Ambrosini, Philipp Bucher, Sunil Kumar
SNP2TFBS is a computational resource intended to support researchers investigating the molecular mechanisms underlying regulatory variation in the human genome. The database essentially consists of a collection of text files providing specific annotations ...
Oxford University Press2016The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
Jacques Fellay, Amalio Telenti, Istvan Bartha, Nimisha Chaturvedi
Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...
Public Library Science2015The impact of host genetic variation on infection with HIV-1
The outcome after infection with the human immunodeficiency virus type 1 (HIV-1) is a complex phenotype determined by interactions among the pathogen, the human host and the surrounding environment. An impact of host genetic variation on HIV-1 susceptibili ...
Nature Publishing Group2015Insight into the evolution and origin of leprosy bacilli from the genome sequence of Mycobacterium lepromatosis
Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh
Mycobacterium lepromatosis is an uncultured human pathogen associated with diffuse lepromatous leprosy and a reactional state known as Lucio's phenomenon. By using deep sequencing with and without DNA enrichment, we obtained the near-complete genome sequen ...
National Academy of Sciences2015