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Identifier	000412544
Title	Pharmacokinetic regulation of ERF, as a therapeutic approach for the ERF-related craniosynostosis in mouse
Alternative Title	Φαρμακολογική ρύθμιση του ERF ως θεραπεία για την κρανιοσυνοστέωση στον ποντικό
Author	Μακρής, Κωνσταντίνος Α.
Thesis advisor	Μαυροθαλασσίτης, Γεώργιος
Abstract	Craniosynostosis is the premature ossification of the cranial sutures, which are the growth centers of the skull and expand it until the completion of the fully-maturation. Recently, whole exome seq. data from patients with this phenotype, showed that they carry heterozygous loss-of function mutants of ERF. Haploinsufficiency of ERF both in human and in the ERFLoxP/- mouse model lead to this particular phenotype. This factor belongs to the ETS family and is characterized as a transcriptional repressor, regulator of placenta morphogenesis, embryonic hematopoiesis, and osteogenesis. Analysis of ChIP-seq data from starvated MEFs gave a great number of common osteogenesis-related genes with the master regulator of osteogenesis Runx2. In parallel, ERF acting through nucleocytoplasmic shuttling and further insights from the gain-of function mutants of FGFR signaling, indicate that this factor is probably cytoplasmic distributed. Given the fact that ERFLoxP/- mice express approximately 30% of functional ERF, this master dissertation aims at regulating pharmacologically the ERF function and the finding of the best administration method for the alleviating of craniosynostosis phenotype defects.
Language	English
Issue date	2017-11-22
Collection	School/Department--School of Sciences and Engineering--Department of Biology--Post-graduate theses
	Type of Work--Post-graduate theses
Permanent Link	https://elocus.lib.uoc.gr//dlib/3/d/f/metadata-dlib-1511268749-361835-21271.tkl
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