Publications related to DiGeorge syndrome

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

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Olaf Blanke, Nathan Quentin Faivre, Roy Salomon, Maude Schneider, Oliver Alan Kannape, Mariia Kaliuzhna, Henrique Galvan Debarba

Schizophrenia is a chronic and disabling mental illness characterized by a disordered sense of self. Current theories suggest that deficiencies in the sense of control over one’s actions (Sense of Agency, SoA) may underlie some of the symptoms of schizophr ...

2022

Exploring associations between diurnal cortisol, stress, coping and psychopathology in adolescents and young adults with 22q11.2 deletion syndrome

Maria del Carmen Sandi Perez, Olivia Zanoletti, Maude Schneider, Farnaz Delavari

Background: 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated to a high risk for psychiatric disorders, including psychosis. Individuals with 22q11DS are thought to experience increased levels of chronic stress, which could lead to ...

2022

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

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability

Dimitri Nestor Alice Van De Ville, Marie Schaer

How the brain's white-matter anatomy constrains brain activity is an open question that might give insights into the mechanisms that underlie mental disorders such as schizophrenia. Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental dis ...

Wiley2021

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Dimitri Nestor Alice Van De Ville, Maude Schneider, Daniela Maria Zöller, Farnaz Delavari, Karin Bortolin

BACKGROUND: Hippocampal alterations are among the most replicated neuroimaging findings across the psychosis spectrum. Moreover, there is strong translational evidence that preserving the maturation of hippocampal networks in mice models prevents the progr ...

ELSEVIER SCIENCE INC2021

A method for fast automated assessment of the magnetic resonance parkinsonism index

Bénédicte Marie Maréchal

In patients with parkinsonian syndromes, and particularly during the early stages of the clinical disease, differentiating between idiopathic Parkinson's disease and progressive supranuclear palsy is challenging. Imaging plays an important role in early di ...

SPRINGER2020

Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity

Elpida Tsika, Darren Moore, Xi Chen

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of late-onset, autosomal-dominant familial Parkinson's disease (PD). LRRK2 functions as both a kinase and GTPase, and PD-linked mutations are known to influence both enzymatic acti ...

National Academy of Sciences2020

Hallucination Engineering: From Neuroscience Robotics to Hallucinations in Health and Disease

Eva Blondiaux

My thesis focuses on a psychotic symptom called the presence hallucination (PH). PHs are defined as the false perception that someone is nearby when no one is actually present. PHs can occur in various populations, ranging from healthy subjects (when expos ...

EPFL2020

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

Maude Schneider, Daniela Maria Zöller, Marie Schaer, 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

Canonical Notch signaling controls the early thymic epithelial progenitor cell state and emergence of the medullary epithelia lineage in fetal thymus development

Freddy Radtke, Ute Koch, Dong Liu

Thymus function depends on the epithelial compartment of the thymic stroma. Cortical thymic epithelial cells (cTECs) regulate T cell lineage commitment and positive selection, while medullary (m) TECs impose central tolerance on the T cell repertoire. Duri ...

2020

Pituitary dysmaturation affects psychopathology and neurodevelopment in 22q11.2 Deletion Syndrome

Dimitri Nestor Alice Van De Ville, Maria del Carmen Sandi Perez, Maude Schneider, Marie Schaer, Daniela Maria Zöller, Maëlle Chambaz

Background 22q11.2 Deletion Syndrome (22q11DS) confers strongly increased genetic risk for multiple psychiatric disorders. Similarly to the general population, rates of psychiatric comorbidity suggest that common disease mechanisms are shared across dimens ...

2020

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

Dynamic organization of human brain function and its relevance for psychosis vulnerability

Daniela Maria Zöller

The brain is the substrate of a complex dynamic system providing a remarkably varied range of functionalities, going from simple perception to higher-level cognition. Disturbances in its complex dynamics can cause an equally vast variety of mental disorder ...

EPFL2019

Cortical Dysconnectivity Measured by Structural Covariance Is Associated With the Presence of Psychotic Symptoms in 22q11.2 Deletion Syndrome

Dimitri Nestor Alice Van De Ville, Maude Schneider, Marie Schaer, Maria Carmela Padula

BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the third-largest known genetic risk factor for the development of psychosis. Dysconnectivity has consistently been implicated in the physiopathology of psychosis. Structural covariance of cortical morphol ...

2018

Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis

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

Background. Patients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neu ...

CAMBRIDGE UNIV PRESS2018

The corepressor NCOR1 regulates the survival of single-positive thymocytes

Johan Auwerx

Nuclear receptor corepressor 1 (NCOR1) is a transcriptional regulator bridging repressive chromatin modifying enzymes with transcription factors. NCOR1 regulates many biological processes, however its role in T cells is not known. Here we show that Cd4-Cre ...

Nature Research2017

Genetic and epigenetic inactivation of SESTRIN1 controls mTORC1 and response to EZH2 inhibition in follicular lymphoma

Elisa Oricchio, Natalya Katanayeva, Elena Battistello, Maria Christine Donaldson, Stephanie Jocelyne Sungalee, Giovanni Ciriello

Follicular lymphoma (FL) is an incurable form of B cell lymphoma. Genomic studies have cataloged common genetic lesions in FL such as translocation t(14;18), frequent losses of chromosome 6q, and mutations in epigenetic regulators such as EZH2 Using a focu ...

American Association for the Advancement of Science2017

Parkin functionally interacts with PGC-1 proportional to to preserve mitochondria and protect dopaminergic neurons

Johan Auwerx, Patrick Aebischer, Graham Knott, Bernard Schneider, Davide D'Amico, Darren Moore, Norman Lionel Moullan, Nathalie Marie Géraldine Bernard, Lu Zheng

To understand the cause of Parkinson's disease (PD), it is important to determine the functional interactions between factors linked to the disease. Parkin is associated with autosomal recessive early-onset PD, and controls the transcription of PGC-1a, a m ...

Oxford University Press2017

An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome

Alessandra Griffa, Patric Hagmann, Marie Schaer, Frantisek Vasa

Chromosome 22q11.2 deletion syndrome (22q11DS) is a genetic disease known to lead to cerebral structural alterations, which we study using the framework of the macroscopic white-matter connectome. We create weighted connectomes of 44 patients with 22q11DS ...

Elsevier Sci Ltd2016