RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.
Gießen, Germany. In Ophthalmic Genet, 2011
The Retinitis Pigmentosa GTPase Regulator (RPGR), which is located in the CC, participates in the IFT and interacts with a variety of proteins, including RPGRIP-1, CEP290, NPM, SMC1 and 3 and IFT88.
FGF signalling during embryo development regulates cilia length in diverse epithelia.
Salt Lake City, United States. In Nature, 2009
Abrogation of Fgfr1 signalling downregulates expression of two ciliogenic transcription factors, foxj1 and rfx2, and of the intraflagellar transport gene ift88 (also known as polaris), indicating that FGF signalling mediates cilia length through an Fgf8/Fgf24-Fgfr1-intraflagellar transport pathway.
Primary cilia and signaling pathways in mammalian development, health and disease.
Copenhagen, Denmark. In Nephron Physiol, 2008
Indeed, hypomorphic mutations in the mouse ift88 (previously called Tg737) gene, which encodes a ciliogenic intraflagellar transport protein, result in malformation of primary cilia, and in the collecting ducts of kidney tubules this is accompanied by development of autosomal recessive polycystic kidney disease (PKD).