Presentation
Sophie THOMAS, PhD, HDR, Principal Investigator
Sophie Thomas and her group work on rare developmental diseases grouped under the term ciliopathies and the consequence of abnormalities in primary cilium biogenesis or function secondary to mutations in genes encoding centrosomal or ciliary proteins. In particular, her research work is focused on the role of the primary cilium in the development of the central nervous system (CNS).
Ciliopathies can lead to CNS malformations (neural tube defect, agenesis of the corpus callosum), cerebellar dysplasia, microcephaly, or cognitive and/or behavioral disorders without any neuroanatomical basis. All types of neocortical progenitors and neurons have a primary cilium that regulates the mechanisms associated with their expansion, fate, migration and maturation.
Sophie Thomas' group has developed a multifaced approach including human genetics, neurohistopathology and 2D and 3D cell-based models of neocortical development (i.e. neural rosettes and cerebral organoids) generated from patient IPS cells (see Figure and movies below), in order to further dismantle the molecular and cellular basis of ciliopathies and to dissect the role of the primary cilium during CNS development, from neural tube patterning to corticogenesis.
ORCID ID: https://orcid.org/0000-0002-8569-3277
ResearcherID: https://publons.com/researcher/2128808/sophie-thomas/
Resources & publications
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Journal (source)Cell Death Discov
Kremen1-induced cell death is regulated by homo- and heterodimerization.
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Journal (source)Curr. Opin. Neurobiol.
Cortical developmental death: selected to survive or fated to die.
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Journal (source)Evodevo
Neuronal fate specification by the Dbx1 transcription factor is linked to the...
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Journal (source)Curr. Biol.
Migration Speed of Cajal-Retzius Cells Modulated by Vesicular Trafficking Con...
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Journal (source)PLoS ONE
Dbx1-expressing cells are necessary for the survival of the mammalian anterio...
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Journal (source)PLoS Biol.
A novel role for Dbx1-derived Cajal-Retzius cells in early regionalization of...
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Journal (source)Cell Death Differ.
Kremen1 and Dickkopf1 control cell survival in a Wnt-independent manner.
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Journal (source)bioRxiv
Functional characterization of RELN missense mutations involved in recessive ...
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Journal (source)Development
The multiple facets of Cajal-Retzius neurons.
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Journal (source)Development
Single-cell transcriptomics of the early developing mouse cerebral cortex dis...
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Journal (source)Dev Cell
Repurposing of the multiciliation gene regulatory network in fate specificati...
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Journal (source)Curr Opin Neurobiol
Cajal-retzius cells: Recent advances in identity and function
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Journal (source)J Comp Neurol
Diversity within olfactory sensory derivatives revealed by the contribution o...
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Journal (source)Dev Cell
Repurposing of the multiciliation gene regulatory network in fate specificati...
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Journal (source)Dev Cell
Repurposing of the multiciliation gene regulatory network in fate specificati...
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Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants act in a dominant-negative manne...
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Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants cause dominant neuronal migratio...
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Journal (source)Development
Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical ...