Concept
Dépression endogamique
Publications associées (38)
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 ...
BMC2024Multidisciplinary Investigation of the Gut-Brain Ecosystem in a Model of Alzheimer's Disease
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 ...
EPFL2022Investigation of physiological roles of AMPK-activated protein kinase y3
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 ...
EPFL2021Image- 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 s ...
2021Development and application of dynamic functional connectivity methods to elucidate the neural underpinnings of human behaviour with functional magnetic resonance imaging
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 ...
EPFL2020Mutation 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 ...
2019Evolution of longevity improves immunity in Drosophila
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 LTD2018Elevated HLA-A expression impairs HIV control through inhibition of NKG2A-expressing cells
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 ...
2018The 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 ...
2017On 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 ...
Amer Soc Microbiology2017