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)J. Invest. Dermatol.
A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.
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Journal (source)Br. J. Dermatol.
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv...
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Journal (source)Br. J. Dermatol.
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv...
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Journal (source)J. Invest. Dermatol.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
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Journal (source)Mol Ther Nucleic Acids
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Usin...
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Journal (source)Sci Transl Med
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dyst...
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Journal (source)J. Invest. Dermatol.
Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Reces...
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Journal (source)J. Am. Acad. Dermatol.
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase ...
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Journal (source)J. Invest. Dermatol.
Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7 (KLK7)...
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Journal (source)J. Invest. Dermatol.
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fi...
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Journal (source)J. Invest. Dermatol.
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bull...
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Journal (source)PLoS Genet.
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.
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Journal (source)J. Exp. Med.
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks...
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Journal (source)J Allergy Clin Immunol
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a...
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Journal (source)Expert Opin Emerg Drugs
Emerging drugs for the treatment of epidermolysis bullosa.
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Journal (source)J Invest Dermatol
Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermo...