Publications associées à Dépression endogamique

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...

BMC2024

Frequent asymmetric migrations suppress natural selection in spatially structured populations

Anne-Florence Raphaëlle Bitbol, Alia Abbara

Natural microbial populations often have complex spatial structures. This can impact their evolution, in particular the ability of mutants to take over. While mutant fixation probabilities are known to be unaffected by sufficiently symmetric structures, ev ...

Oxford Univ Press2023

Multidisciplinary Investigation of the Gut-Brain Ecosystem in a Model of Alzheimer's Disease

Arielle Louise Planchette

The search for an understanding of the causal elements that lead to neurodegenerative diseases has motivated researchers for decades. Today, Alzheimer's disease is the most prevalent form of dementia and affects approximately fifty million people worldwide ...

EPFL2022

Investigation of physiological roles of AMPK-activated protein kinase y3

Philipp Jurijvic Rhein

Clinical trials have shown that direct activators of an evolutionary-conserved metabolic sensor, AMP-activated protein kinase (AMPK), are beneficial in preventing/treating a range of metabolic disorders, including type 2 diabetes. These activators, includi ...

EPFL2021

Image- and Fluorescence-Based Test Shows Oxidant-Dependent Damages in Red Blood Cells and Enables Screening of Potential Protective Molecules

Gerardo Turcatti, Benjamin Rappaz, David Crettaz, Michel Prudent, Manon Sandra Bardyn

An increase of oxygen saturation within blood bags and metabolic dysregulation occur during storage of red blood cells (RBCs). It leads to the gradual exhaustion of RBC antioxidant protective system and, consequently, to a deleterious state of oxidative st ...

2021

Development and application of dynamic functional connectivity methods to elucidate the neural underpinnings of human behaviour with functional magnetic resonance imaging

Thomas William Arthur Bolton

Human behaviour is exquisitely complex, because it is staggeringly multi-facetted and subtly varies across individuals. Characterising its yet incompletely understood underlying biological mechanisms has profound clinical implications. Here, our goal was t ...

EPFL2020

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cel ...

2019

Evolution of longevity improves immunity in Drosophila

Bruno Lemaitre

Much has been learned about the genetics of aging from studies in model organisms, but still little is known about naturally occurring alleles that contribute to variation in longevity. For example, analysis of mutants and transgenes has identified insulin ...

JOHN WILEY & SONS LTD2018

Elevated HLA-A expression impairs HIV control through inhibition of NKG2A-expressing cells

Jacques Fellay

The highly polymorphic human leukocyte antigen (HLA) locus encodes cell surface proteins that are critical for immunity. HLA-A expression levels vary in an allele-dependent manner, diversifying allele-specific effects beyond peptide-binding preference. Ana ...

American Association for the Advancement of Science2018

The effect of overall stimulus configuration on crowding

Michael Herzog, Maya Roinishvili, Mattew Pachai

The standard framework to study vision is typically hierarchical and feedforward, which facilitates deconstructing complex mechanisms into smaller, more tractable problems. However, this framework can fail when elements are presented in context, as they ar ...

2017

On the Analysis of Intrahost and Interhost Viral Populations: Human Cytomegalovirus as a Case Study of Pitfalls and Expectations

Jeffrey David Jensen, Sebastian Matuszewski, Susanne Petra Pfeifer

Intrahost and interhost assessments of viral diversity are often treated as measures of separate and distinct evolutionary processes, with numerous investigations reporting seemingly incompatible results between the two. For example, in human cytomegalovir ...

American Society for Microbiology2017

Combining genotype, phenotype and environment to infer potential candidate genes: An example using the Loblolly pine (Pinus taeda)

Stéphane Joost

Population genomic analyses can be an important tool in understanding local adaptation. Identification of potential adaptive loci in such analyses is usually based on the survey of a large genomic dataset in combination with environmental variables. Phenot ...

Oxford University Press2017

Comparisons of verbal fluency brain correlates between adults and adolescents suffering from schizophrenia spectrum disorders: A pilot study

Pierre Magistretti, Pierre Marquet

Background and Objectives: Prefrontal cortex (PFC) dysfunctions leading to cognitive deficits refer to a core feature of schizophrenia spectrum disorders (SSD). This exploratory study compares the effect of SSD on two stages of maturation of PFC. Methods: ...

European Journal Of Psychiatry2016

Coalescent inferences in conservation genetics: should the exception become the rule?

Valeria Montano

Genetic estimates of effective population size (Ne) are an established means to develop informed conservation policies. Another key goal to pursue the conservation of endangered species is keeping the connectivity across fragmented environments, to which g ...

Royal Soc2016

Neutral and Adaptive Drivers of Microgeographic Genetic Divergence within Continuous Populations: The Case of the Neotropical Tree Eperua falcata (Aubl.)

Matthieu Foll

Background In wild plant populations, genetic divergence within continuous stands is common, sometimes at very short geographical scales. While restrictions to gene flow combined with local inbreeding and genetic drift may cause neutral differentiation amo ...

Public Library of Science2015

Deleterious effects of roving on learned tasks

Michael Herzog, Lukasz Grzeczkowski, Aaron Michael Clarke, Fred Mast

In typical perceptual learning experiments, one stimulus type (e.g., a bisection stimulus offset either to the left or right) is presented per trial. In roving, two different stimulus types (e.g., a 30' and a 20' wide bisection stimulus) are randomly inter ...

Pergamon-Elsevier Science Ltd2014

Deleterious effect of homogeneous and heterogeneous near-neutral photo-Fenton system on Escherichia coli. Comparison with photo-catalytic action of TiO2 during cell envelope disruption

César Pulgarin, Cristina del Socorro Lonfat, Andrzej Sienkiewicz

The mechanisms underlying bacterial inactivation by solar photo-Fenton at near-neutral pH have not yet been investigated in detail. In particular, no consensus exists on the bacterial inactivation mechanism under solar light enhanced by the Fenton's reagen ...

Elsevier Science Bv2014

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

Bart Deplancke, Andreas Massouras, Sandy Lee, Yi Han, Yiming Zhu

The Drosophila melanogaster Genetic Reference Panel (DGRP) is a community resource of 205 sequenced inbred lines, derived to improve our understanding of the effects of naturally occurring genetic variation on molecular and organismal phenotypes. We used a ...

Cold Spring Harbor Laboratory Press2014

Hepatotoxicity induced by neonatal exposure to diethylstilbestrol is maintained throughout adulthood via the nuclear receptor SHP

Kristina Schoonjans

Background: Liver physiology is sensitive to estrogens, which suggests that the liver might be a target of estrogenic endocrine disrupters (EED). However, the long-term consequences of neonatal exposure to EED on liver physiology have rarely been studied. ...

Informa Healthcare2014

Influence of HLA-C Expression Level on HIV Control

Jacques Fellay, Paul Jack Mc Laren

A variant upstream of human leukocyte antigen C (HLA-C) shows the most significant genome-wide effect on HIV control in European Americans and is also associated with the level of HLA-C expression. We characterized the differential cell surface expression ...

American Association for the Advancement of Science2013