Publications associées à The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation

Genes implicated in translation control have been associated with autism spectrum disorders (ASDs). However, some important genetic causes of autism, including the 16p11.2 microdeletion, bear no obvious connection to translation. Here, we use proteomics, g ...

Amer Assoc Advancement Science2024

Meeting our Makers: Uncovering the cis-regulatory activity of transposable elements using statistical learning

Cyril David Son-Tuyên Pulver

The adaptation of organisms to their environment depends on the innovative potential inherent to genetic variation. In complex organisms such as mammals, processes like development and immunity require tight gene regulation. Complex forms emerge more often ...

EPFL2024

Neurobiological and metabolic basis of motivation and effort-based decision-making - A human 1H-MRS, fMRI and machine learning study

Arthur Barakat

Motivation is a multifaceted phenomenon that we explore within the framework of decision-making. Through this cognitive process, actions are directed towards specific goals by performing a trade-off between the cost and benefit of an action. The dorsomedia ...

EPFL2024

White adipose tissue distribution and amount are associated with increased white matter connectivity

Jean-Philippe Thiran, Gabriel Girard, Elda Fischi Gomez, Philipp Johannes Koch, Liana Okudzhava

Obesity represents a significant public health concern and is linked to various comorbidities and cognitive impairments. Previous research indicates that elevated body mass index (BMI) is associated with structural changes in white matter (WM). However, a ...

Wiley2024

Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs)

Dimitri Nestor Alice Van De Ville, Thomas William Arthur Bolton, Farnaz Delavari, Nada Kojovic

The temporal variability of the thalamus in functional networks may provide valuable insights into the pathophysiology of schizophrenia. To address the complexity of the role of the thalamic nuclei in psychosis, we introduced micro-co-activation patterns ( ...

Wiley2024

Transdiagnostic markers across the psychosis continuum: a systematic review and meta-analysis of resting state fMRI studies

Dimitri Nestor Alice Van De Ville, Farnaz Delavari

Psychotic symptoms are among the most debilitating and challenging presentations of severe psychiatric diseases, such as schizophrenia, schizoaffective, and bipolar disorder. A pathophysiological understanding of intrinsic brain activity underlying psychos ...

Frontiers Media Sa2024

Ancestral genome reconstruction enhances transposable element annotation by identifying degenerate integrants

Didier Trono, Evaristo Jose Planet Letschert, Wayo Matsushima

Growing evidence indicates that transposable elements (TEs) play important roles in evolution by providing genomes with coding and non-coding sequences. Identification of TE-derived functional elements, however, has relied on TE annotations in individual s ...

2024

The dynamic genetic determinants of increased transcriptional divergence in spermatids

Christina Ernst

Cis-genetic effects are key determinants of transcriptional divergence in discrete tissues and cell types. However, how cis- and trans-effects act across continuous trajectories of cellular differentiation in vivo is poorly understood. Here, we quantify al ...

Nature Portfolio2024

The interplay between white adipose tissue, adipokines, and structural gray matter changes

Jean-Philippe Thiran, Gabriel Girard, Elda Fischi Gomez, Liana Okudzhava

The growing global obesity issue emphasizes the importance of understanding its health implications. Previous research has identified consistent alterations in gray matter (GM) volume in connection with obesity. Given the various implications of distinct f ...

Wiley2024

Non-invasive stimulation of the human striatum disrupts reinforcement learning of motor skills

Friedhelm Christoph Hummel, Takuya Morishita, Pierre Theopistos Vassiliadis, Elena Beanato, Esra Neufeld, Fabienne Windel, Maximilian Jonas Wessel, Traian Popa, Julie Duqué

Reinforcement feedback can improve motor learning, but the underlying brain mechanisms remain underexplored. In particular, the causal contribution of specific patterns of oscillatory activity within the human striatum is unknown. To address this question, ...

Nature Portfolio2024