Présentation
PhD student : Molecular mechanisms of transient life span in the cerebral cortex [how damaged birth determines develomental death]
Early developmental phases constitute a major step in the emergence of brain circuits and its alterations in the etiology of neurodevelopmental disorders (NDDs), including autism. Autism has a strong genetic component and hundreds of risk genes have been associated with this complex condition. Autism is also linked to changes in the numbers of neurons, cortical patterning and defects in cell proliferation/differentiation at the earliest stages of cortical development and epilepsy.
While cellular processes like neurogenesis, migration, synaptogenesis, or myelination are recognized building blocks of circuit formation, an emerging player in the assembly of cortical networks is programmed cell death (PCD). Our laboratory has shown that cortical development also depends on the action of specific cell types that stay transiently during the construction of neural circuits and control cortical growth and patterning. Their PCD at early postnatal ages is essential for the maturation of cortical networks and such defects lead to epilepsy.
We have to decipher the molecular mechanisms involved in determining transient fate and how difference in survival of unfitted transient cells drives autism-like phenotypes.
Ressources & publications
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Journal (source)Nature communications
Type I interferon-mediated autoinflammation due to DNase II deficiency.
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Journal (source)The journal of experimental medicine 2017
Detection of interferon alpha protein reveals differential levels and cellula...
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Journal (source)The lancet rheumatology 2020
Contribution of rare and predicted pathogenic gene variants to childhood-onse...
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Journal (source)J Clin Immunol
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue ...
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Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
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Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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Journal (source)J Exp Med
Enhanced cGAS-STING-dependent interferon signaling associated with mutations ...