Dr Agnès Bloch-Zupan
Orofacial development Group
Group Leader: Dr Agnès Bloch-Zupan
We are interested in the molecular mechanisms underlying normal mammalian craniofacial development (ie palate and tooth) and why and how some genetic and/or external factors, like retinoic acid, may modify the normal progression of developmental events leading to clinical defects like cleft palate or tooth abnormalities.
We are focusing on genes involved in human diseases whose clinical synopses result in these defects. In particular we are interested in the twist and OFD1 genes that when mutated cause Saethre Chotzen syndrome and oral-facial-digital syndrome type 1, respectively.
- Analysis of craniofacial anomalies from a clinical, genetic and developmental point of view.
- Role of retinoid signalling in mouse palatogenesis.
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