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Clinical, preclinical and translational approaches of orodental anomalies associated with rare diseases

Abstract : The goal of this thesis is to investigate genetic and environmental factors, both initiating and influencing signaling centers that regulate tooth development and thus producing associated defects. Essentially, my research program utilizes patient-based rare disease phenotypes to create novel mouse models. This study also involved investigating the developmental effects of excess retinoic acid on enamel formation to gain understanding of the mechanisms by which environmental factors can alter enamel development. Other studies investigated enamel and dental anomalies in Ltbp3 and Smoc2 mutant mice. These results advance our understanding of tooth development, and may translate towards optimizing clinical diagnosis, and improving treatment strategies for several human rare diseases. An improved understanding of rare disease models and our testing of clinically relevant approaches using rodent models is a feasible approach to address bone degeneration problems.
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Supawich Morkmued. Clinical, preclinical and translational approaches of orodental anomalies associated with rare diseases. Development Biology. Université de Strasbourg, 2017. English. ⟨NNT : 2017STRAJ040⟩. ⟨tel-02939373⟩

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