Jonathan Tobin's profile
I'm 25
What I do
I investigate the ciliopathies, a class of genetic disorders whose aetiologies lie in defective cilia. I have developed zebrafish models of these diseases to study the function of the proteins involved and to investigate potential therapeutic molecules.
Affiliations
Current affiliations
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- Position
- PhD student
- Company
- UCL Institute of Child Health
- Further information
Location
- City:
- None chosen
- Hub:
- London
Interests
Interested in genetic diseases, developmental biology, cell signalling, cell migration, zebrafish
Projects
1) Investigation of the role of BBS proteins in neural crest migration
2) Identification of novel roles of BBS protein in Sonic Hedgehog transduction
3) Screening of compounds for functional amelioration of kidney defects in zebrafish models of ciliopathies
4) Investigating the functions of the FTO protein
Publications
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Beales P, Bland E, Tobin J, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson C, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler P. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature genetics (6) , 727-9 (Epub 29 Apr 2007) PubMed ID:(17468754)
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Tobin J, Beales P. Bardet-Biedl syndrome: beyond the cilium. Pediatric nephrology (Berlin, Germany) (7) , 926-36 (Epub 15 Mar 2007) PubMed ID:(17357787)
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