Craniofacial Development and Growth in Polycystic Kidney Disease

Abstract

Licence: This open access article is licenced under Creative Commons Attribution 4.0 International (CC BY 4.0). http://creativecommons.org/licenses/by/4.0/ Users are allowed to share (copy and redistribute the material in any medium or format) and adapt (remix, transform, and build upon the material for any purpose, even commercially), as long as the author and the publisher are explicitly identified and properly acknowledged as the original source. AbstractAutosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the presence of multiple cysts in kidneys. ADPKD has been shown to be caused by mutations in the genes of PKD1 and PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Polycystins are localized in primary cilia that play roles in multiple biological processes including mechanoreception, Ca 2+ influx and cell signalling Ohazama and Sharpe 458 pathways. Primary cilia are known to play important roles in regulating craniofacial development and growth. In this chapter, we summarize the function of Pkd1 and Pkd2 in controlling mouse craniofacial development and growth, and discuss PKD-associated molecular mechanisms.

Primary cilia and hypoxia-associated signaling in developmental odontogenic cysts in relation to autosomal dominant polycystic kidney disease – A novel insight

“…Besides, emerging evidence suggests that PKD1 / PKD2 mutations are responsible not only for ADPKD, but also for some craniofacial anomalies in a mouse model and for specific facial characteristics in humans [ 81 ]. Hypoxia is another important driver of ADPKD progression [ 12 ]; it has, however, only recently drawn attention in the research of OC pathogenesis [ 51 ].…”