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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Related publications (33)
Environment-dependent epistasis increases phenotypic diversity in gene regulatory networks
Mutations to gene regulatory networks can be maladaptive or a source of evolutionary novelty. Epistasis con-founds our understanding of how mutations affect the expression patterns of gene regulatory networks, a chal-lenge exacerbated by the dependence of ...
AMER ASSOC ADVANCEMENT SCIENCE2023Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Jacques Fellay, Yu Zhang, Peng Zhang, Qian Zhang
BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvac ...
BMC2023Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive
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 ...
London2023A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism
Maria del Carmen Sandi Perez, Cristina Ramona Cudalbu, Jocelin Grosse, Dunja Simicic
Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifi ...
2021Comprehensive analysis of PM20D1 QTL in Alzheimer's disease
Johannes Gräff, Liliane Glauser, Jose Vicente Sanchez Mut
Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...
BMC2020Feature Learning of Virus Genome Evolution With the Nucleotide Skip-Gram Neural Network
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 ...
2019Elucidating regulatory mechanisms shaping the transcriptome and proteome of the gut immune response in Drosophila melanogaster
Work on Drosophila melanogaster paved the way to our current understanding of modern genetics. Since then, this model organism has contributed greatly to various fields such as neurobiology, development, and immunology. The discovery and analysis of the va ...
EPFL2019Mutation 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 ...
2019Strain-level diversity drives alternative community types in millimetre-scale granular biofilms
Microbial communities are often highly diverse in their composition, both at a coarse-grained taxonomic level, such as genus, and at a highly resolved level, such as strains, within species. This variability can be driven by either extrinsic factors such a ...
NATURE PUBLISHING GROUP2018Inferring the age and strength of mutations evolving under positive selection
A fundamental goal of population genetics is to determine and quantify the interplay of mutation, natural selection, genetic drift and migration in shaping allelic frequency changes that underpin evolution-ary change. In this dissertation, I present comput ...
EPFL2017