Publications associées à Liaison génétique

Identifying genetic and dietary modulators of metabolic disorders using systems genetics

Long-term consumption of lipid-rich foods can contribute to common metabolic diseases and systemic low-grade inflammation. However, dietary responses and the development of non-communicable diseases are shaped by genetic factors and gene-by-environment int ...

EPFL2023

The HLA-B*57:01 allele corresponds to a very large MHC haploblock likely explaining its massive effect for HIV-1 elite control

Jacques Fellay

Introduction: We have reanalyzed the genomic data of the International Collaboration for the Genomics of HIV (ICGH), centering on HIV-1 Elite Controllers.Methods: We performed a genome-wide Association Study comparing 543 HIV Elite Controllers with 3,272 u ...

Frontiers Media Sa2023

C-shells: Deployable Gridshells with Curved Beams

Mark Pauly, Seiichi Eduardo Suzuki Erazo, Quentin Christian Becker, Yingying Ren, Francis Julian Panetta, Davide Pellis

We introduce a computational pipeline for simulating and designing C-shells, a new class of planar-to-spatial deployable linkage structures. A C-shell is composed of curved flexible beams connected at rotational joints that can be assembled in a stress-fre ...

2023

Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive

Konstantin Popadin

The resilience of the mitochondrial genome (mtDNA) to a high mutational pressure depends, in part, on negative purifying selection in the germline. A paradigm in the field has been that such selection, at least in part, takes place in primordial germ cells ...

Elsevier Sci Ltd2023

Regulation of sedimentation rate shapes the evolution of multicellularity in a close unicellular relative of animals

Omaya Pierre Dudin

Significant increases in sedimentation rate accompany the evolution of multicellularity. These increases should lead to rapid changes in ecological distribution, thereby affecting the costs and benefits of multicellularity and its likelihood to evolve. How ...

PUBLIC LIBRARY SCIENCE2022

Variability of Primary Sjogren's Syndrome Is Driven by Interferon alpha and Interferon alpha Blood Levels Are Associated With the Class II HLA-DQ Locus

Jacques Fellay, Christian Axel Wandall Thorball, Nicolas Meyer

Objective Primary Sjogren's syndrome (SS) is the second most frequent systemic autoimmune disease, affecting 0.1% of the general population. To characterize the molecular and clinical variabilities among patients with primary SS, we integrated transcriptom ...

WILEY2022

Method of encoding a 3d shape into a 2d surface

Mark Pauly, Mina Konakovic Lukovic, Francis Julian Panetta

The present invention concerns a method for encoding a given 3D shape into a target 2D linkage. The method comprises: (a) providing an initial 2D surface; and (b) defining on the initial 2D surface an auxetic pattern of geometric elements planarly linked b ...

2020

Seascape Genomics of the Sugar Kelp Saccharina latissima along the North Eastern Atlantic Latitudinal Gradient

Chloé Christiane Laurence Jollivet, Stéphane Mauger

Temperature is one of the most important range-limiting factors for many seaweeds. Driven by the recent climatic changes, rapid northward shifts of species' distribution ranges can potentially modify the phylogeographic signature of Last Glacial Maximum. W ...

MDPI2020

The interactome of KRAB zinc finger proteins reveals the evolutionary history of their functional diversification

Didier Trono, Priscilla Turelli, Christian Axel Wandall Thorball, Julien Léonard Duc, Michaël Imbeault, Andrea Coluccio, Julien Paul André Pontis, Pierre-Yves Joseph Laurent Helleboid, Cécile Piot, Ruedi Aebersold

Krüppel‐associated box (KRAB)‐containing zinc finger proteins (KZFPs) are encoded in the hundreds by the genomes of higher vertebrates, and many act with the heterochromatin‐inducing KAP1 as repressors of transposable elements (TEs) during early embryogene ...

2019

Feature Learning of Virus Genome Evolution With the Nucleotide Skip-Gram Neural Network

Hyunjin Shim

Recent studies reveal that even the smallest genomes such as viruses evolve through complex and stochastic processes, and the assumption of independent alleles is not valid in most applications. Advances in sequencing technologies produce multiple time-poi ...

2019

The Detection of Early Epigenetic Inheritance of Mitochondrial Stress in C. Elegans with a Microfluidic Phenotyping Platform

Johan Auwerx, Martinus Gijs, Matteo Cornaglia, Hüseyin Baris Atakan

Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...

Nature Research2019

Tissue- and sex-specific small RNAomes reveal sex differences in response to the environment

Pierre Gönczy, Alexandra Bezler, Frédéric Schütz, Laurent Keller, Raffaella Conconi

RNA interference (RNAi) related pathways are essential for germline development and fertility in metazoa and can contribute to inter- and trans-generational inheritance. In the nematode Caenorhabditis elegans, environmental double-stranded RNA provided by ...

2019

Novel inferences of ionisation and recombination for particle/power balance during detached discharges using deuterium Balmer line spectroscopy

Basil Duval, Kevin Henricus Annemarie Verhaegh, Mirko Wensing

The physics of divertor detachment is determined by divertor power, particle and momentum balance. This work provides a novel analysis technique of the Balmer line series to obtain a full particle/power balance measurement of the divertor. This supplies ne ...

IOP PUBLISHING LTD2019

CRX-linked macular dystrophy with intrafamilial variable expressivity

Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. ...

TAYLOR & FRANCIS INC2018

Multiscale landscape genomic models to detect signatures of selection in the alpine plant Biscutella laevigata

Stéphane Joost, Kevin Leempoel

Plant species are known to adapt locally to their environment, particularly in mountainous areas where conditions can vary drastically over short distances. The climate of such landscapes being largely influenced by topography, using fine-scale models to e ...

2018

The ultimate and proximate mechanisms driving the evolution of long tails in forest deer mice

Susanne Petra Pfeifer

Understanding both the role of selection in driving phenotypic change and its underlying genetic basis remain major challenges in evolutionary biology. Here, we use modern tools to revisit a classic system of local adaptation in the North American deer mou ...

Wiley2017

Genomic targets and molecular partners of the chromatin regulator KAP1

Annamaria Kauzlaric

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 ...

EPFL2017

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P

Vincenzo Sorrentino

Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really ...

Oxford University Press2017

The mouse genome displays highly dynamic populations of KRAB-zinc finger protein genes and related genetic units

Didier Trono, Julien Léonard Duc, Gabriela Ecco, Marco Cassano, Annamaria Kauzlaric, Michaël Imbeault

KRAB-containing poly-zinc finger proteins (KZFPs) constitute the largest family of transcription factors encoded by mammalian genomes, and growing evidence indicates that they fulfill functions critical to both embryonic development and maintenance of adul ...

Public Library of Science2017

Spectroscopic investigations of divertor detachment in TCV

Basil Duval, Christian Gabriel Theiler, Holger Reimerdes, Benoît Labit, Umar Sheikh, Nicola Vianello, Federico Nespoli, Cedric Kar-Wai Tsui, Kevin Henricus Annemarie Verhaegh, Wouter Vijvers, Roberto Maurizio, Claudio Marini

The aim of this work is to provide an understanding of detachment at TCV with emphasis on analysis of the Balmer line emission. A new Divertor Spectroscopy System has been developed for this purpose. Further development of Balmer line analysis techniques h ...

Elsevier2017