Development of the oral cavity : from gene to clinical phenotype in human

Tooth development is under strict genetic control and is mediated by epithelio-mesenchymal interactions. Oro-dental anomalies are one aspect of the 7000 known syndromes and 900 of these have an oral phenotype. Our goal is to combine the study of animal models and bioinformatics to improve the understanding of etiopathogenic mechanisms involved in oral development. Methods: (1)Selection of known genes responsible for syndromes but for which the expression and/or roles are not characterised ; (2)Identification of new candidate genes, through an analysis of their craniofacial and dental expression patterns using the EURExpress mouse transcriptome-wide atlas ; (3)Selection of genes differentially expressed between molars and incisors and between mandibular and maxillary molars at E14.5 by transcriptomic analysis ; (4)Study of craniofacial and orodental malformations of Rsk2-/Y mice by microtomodensitometry (model of Coffin-Lowry syndrome) Results: (1)Expression pattern during odontogenesis for 13 genes ; (2)Expression pattern for 4 genes (3)88 gènes différentially expressed between molars and incisors and 53 between mandibular and maxillary molars (4)Smaller mutants, nasal deviation and supplementary teeth. Conclusion: This project federates scientists and clinicians around the understanding of orodental anomalies and should stimulate the implementation of science based evidence diagnosis and new therapeutic options.

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Source https://theses.hal.science/tel-00858740
Author Laugel-Haushalter, Virginie, Laugel
Maintainer CCSD
Last Updated May 9, 2026, 20:42 (UTC)
Created May 9, 2026, 20:42 (UTC)
Identifier NNT: 2012STRAJ066
Language fr
Rights https://about.hal.science/hal-authorisation-v1/
contributor Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) ; Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
creator Laugel-Haushalter, Virginie, Laugel
date 2012-06-06T00:00:00
harvest_object_id 5efe4b7a-37e0-45be-b2cf-06a8b92c4bf9
harvest_source_id 3374d638-d20b-4672-ba96-a23232d55657
harvest_source_title test moissonnage SELUNE
metadata_modified 2026-03-30T00:00:00
set_spec type:THESE