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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 ...
Cambridge2024Secondary 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 ...
BMC2023Neural 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 LTD2022The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
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 SCIENCE2021Analysis 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 ...
EPFL2019The 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 Inc2016Cycling 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