Article
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).
Human molecular genetics - 1 May 2013
Khonsari Roman H, Ohazama Atsushi, Raouf Ramin, Kawasaki Maiko, Kawasaki Katsushige, Porntaveetus Thantrira, Ghafoor Sarah, Hammond Peter, Suttie Michael, Odri Guillaume A, Sandford Richard N, Wood John N, Sharpe Paul T
Abstract excerpt
Polycystin 2 (Pkd2), which belongs to the transient receptor potential family, plays a critical role in development. Pkd2 is mainly localized in the primary cilia, which also function as mechanoreceptors in many cells that influence multiple biological processes including Ca(2+) influx, chemical activity and signalling pathways. Mutations in many cilia proteins result in craniofacial abnormalities. Orofacial...
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