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Publications associées (36)

A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy

Jacques Fellay, Flavia Aurelia Shoko Hodel

Infectious agents contribute significantly to the global burden of diseases through both acute infection and their chronic sequelae. We leveraged the UK Biobank to identify genetic loci that influence humoral immune response to multiple infections. From 45 ...

Cambridge2024

Secondary structure of the human mitochondrial genome affects formation of deletions

Jacques Fellay, Konstantin Popadin

BackgroundAging in postmitotic tissues is associated with clonal expansion of somatic mitochondrial deletions, the origin of which is not well understood. Such deletions are often flanked by direct nucleotide repeats, but this alone does not fully explain ...

BMC2023

Neural substrates of psychosis revealed by altered dependencies between brain activity and white-matter architecture in individuals with 22q11 deletion syndrome

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Farnaz Delavari, Karin Bortolin, Emeline Mullier

Background: Dysconnectivity has been consistently proposed as a major key mechanism in psychosis. Indeed, disruptions in large-scale structural and functional brain networks have been associated with psychotic symptoms. However, brain activity is largely c ...

ELSEVIER SCI LTD2022

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Yu Bai, René Uwe Schneider

Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic evidence in mouse and Drosophila models suggests a gain-of ...

AMER ASSOC ADVANCEMENT SCIENCE2021

Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS

Maude Schneider, Marie Schaer, Daniela Maria Zöller, Maria Carmela Padula

Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome (22q11.2DS) represents a unique model to study ...

SPRINGERNATURE2020

Analysis of long-range gene regulation at the HoxD locus

Ana Rita De Carvalho Amândio Lhopitallier

Hoxd genes are essential for the development of the various body axes in vertebrates and hence the underlying regulatory mechanisms are of paramount importance. Among these various mechanisms are long-range acting enhancers, which are located in the two ad ...

EPFL2019

Large scale genomic reorganization of topological domains at the HoxD locus

Denis Duboule, Marion Leleu, Lucille Delisle, Daniël Noordermeer, Pierre Raymond Fabre, Leonardo Beccari, Benjamin Howard Mormann

BACKGROUND: The transcriptional activation of HoxD genes during mammalian limb development involves dynamic interactions with two topologically associating domains (TADs) flanking the HoxD cluster. In particular, the activation of the most posterior HoxD g ...

BioMed Central2017

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Bogdan Draganski, Nouchine Hadjikhani, Loyse Hippolyte, Borja Rodriguez Herreros

BACKGROUND: Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of thes ...

Elsevier Science Inc2016

Cycling temperature capillary electrophoresis: A quantitative, fast and inexpensive method to detect mutations in mixed populations of human mitochondrial DNA

Stephan Morgenthaler, Paul Refinetti, Per Olaf Ekstrom

Cycling temperature capillary electrophoresis has been optimised for mutation detection in 76% of the mitochondrial genome. The method was tested on a mixed sample and compared to mutation detection by next generation sequencing. Out of 152 fragments 90 we ...

Elsevier Sci Ltd2016

FOXC2 and fluid shear stress stabilize postnatal lymphatic vasculature

Nadine Fournier, Mauro Delorenzi, Yan Agalarov, Esther Bovay

Biomechanical forces, such as fluid shear stress, govern multiple aspects of endothelial cell biology. In blood vessels, disturbed flow is associated with vascular diseases, such as atherosclerosis, and promotes endothelial cell proliferation and apoptosis ...

American Society for Clinical Investigation2015

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