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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
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Μακρής, Κωνσταντίνος Α.
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Thesis advisor
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Μαυροθαλασσίτης, Γεώργιος
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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.
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Language |
English |
Issue date |
2017-11-22 |
Collection
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School/Department--School of Sciences and Engineering--Department of Biology--Post-graduate theses
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Type of Work--Post-graduate theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/3/d/f/metadata-dlib-1511268749-361835-21271.tkl
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Views |
285 |