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

Publications associées (30)

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

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

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

Wayo Matsushima, Didier Trono, Evaristo Jose Planet Letschert

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

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, Maximilian Jonas Wessel, Elena Beanato, Traian Popa, Pierre Theopistos Vassiliadis, Fabienne Windel, Esra Neufeld

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

Wide-scale identification of novel/eliminated genes responsible for evolutionary transformations

Daria Korotkova

BackgroundIt is generally accepted that most evolutionary transformations at the phenotype level are associated either with rearrangements of genomic regulatory elements, which control the activity of gene networks, or with changes in the amino acid conten ...

2023

Brain mitochondrial diversity and network organization predict anxiety-like behavior in male mice

Maria del Carmen Sandi Perez

The brain and behavior are under energetic constraints, limited by mitochondrial energy transformation capacity. However, the mitochondria-behavior relationship has not been systematically studied at a brain-wide scale. Here we examined the association bet ...

Nature Research2023

Me, Myself, and I: Neural Activity for Self versus Other across Development

Solange Noémie Jeanne Denervaud

Although adults and children differ in self-vs.-other perception, a developmental perspective on this discriminative ability at the brain level is missing. This study examined neural activation for self-vs.-other in a sample of 39 participants spanning fou ...

MDPI2023

Cortical alterations after very preterm birth and the association with socio-emotional abilities from childhood to early adolescence

Jean-Philippe Thiran, Elda Fischi Gomez, Vanessa Siffredi

Very preterm birth (VPT;

2023

Redox and Immune Signaling in Schizophrenia: New Therapeutic Potential

Lijing Xin

Redox biology and immune signaling play major roles in the body, including in brain function. A rapidly growing literature also suggests that redox and immune abnormalities are implicated in neuropsychiatric conditions such as schizophrenia (SZ), bipolar d ...

OXFORD UNIV PRESS2023

Environment-dependent epistasis increases phenotypic diversity in gene regulatory networks

Florence Gauye, Florian Baier

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 SCIENCE2023

Cannabis use, cannabis use disorder and mental health disorders among pregnant and postpartum women in the US: A nationally representative study

Aaron Leor Sarvet

Background: Cannabis use and cannabis use disorder (CUD) are associated with mental health disorders, however the extent of this matter among pregnant and recently postpartum (e.g., new moms) women in the US is un-known. Associations between cannabis use, ...

2023

Linking connectivity of deep brain stimulation of nucleus accumbens area with clinical depression improvements: a retrospective longitudinal case series

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti

Treatment-resistant depression is a severe form of major depressive disorder and deep brain stimulation is currently an investigational treatment. The stimulation's therapeutic effect may be explained through the functional and structural connectivities be ...

Springer Heidelberg2024

Behavioral outcome of very preterm children at 5 years of age: Prognostic utility of brain tissue volumes at term-equivalent-age, perinatal, and environmental factors

Djalel Eddine Meskaldji, Serafeim Loukas

ObjectivePrematurity is associated with a high risk of long-term behavioral problems. This study aimed to assess the prognostic utility of volumetric brain data at term-equivalent-age (TEA), clinical perinatal factors, and parental social economic risk in ...

WILEY2023

Glucocorticoid-based pharmacotherapies preventing PTSD

Maria del Carmen Sandi Perez, Silvia Monari

Posttraumatic stress disorder (PTSD) is a highly disabling psychiatric condition that may arise after exposure to acute and severe trauma. It is a highly prevalent mental disorder worldwide, and the current treatment options for these patients remain limit ...

2023