2011 research

I investigate the neural circuits in the retina and hypothalamus involved in vision (image forming and non-image forming). Characterization of these systems will deepen our understanding of function, describe pathology of disease and aid in the development and evaluation of treatments such as gene/cell replacement therapies.

Publications

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K.. (2010) Bardet-Biedl syndrome in Denmark – Report of 13 novel sequence variations in six genes. Human Mutation Apr;31 (4): 429-36., 2010

Satz J, Philp AR, Nguyen H, Kusano H, Lee J, Turk R, Riker M, Hernández J, Weiss R, Anderson M, Mullins R, Moore S, Stone E, Cambell K. (2009) Visual impairment in the absence of dystroglycan. Journal of Neuroscience. 29 (42):13136-46, 2009

Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM. (2009) Predicting the pathogenicity of RPE65 mutations. Hum Mutat. Aug;30(8):1183-8., 2009

Thompson S, Mullins RF, Philp AR, Stone EM, Mrosovsky N. (2008) Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd). Invest Ophthalmol Vis Sci. Jun;49(6):2737-42., 2008 - link

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. (2008) Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A. Feb 15;146A(4):517-20., 2008

Davis, R.E., Swiderski, R.E, Rahmouni, K., Nishimura, D.Y., Mullins, R.F., Agassandian, K., Philp, A.R., Searby, C.C., Andrews, M.P., Thompson, S., Berry, C.J., Thedens, D.R., Yang, B., Weiss, R., Cassell, M.D., Stone, E.M., Sheffield, V.C.. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy and obesity. PNAS, Nov 21., 2007

Thompson, S., Philp, A.R. & Stone, E. M. (2007) Visual function testing: A quantifiable visually guided behavior in mice. Vision Res. Sep 5., , 2007

Scheetz, T.E., Kim, K-Y.A., Swiderski, R.E., Philp, A.R., Braun, T.A., Knudtson, K.L., Dorrance, A.M., DiBona, G.F., Huang, J., Casavant, T.L., Sheffield, V.C., Stone, E.M.. (2006) Regulation of Gene Expression in the Mammalian Eye and its Relevance to Eye Disease. PNAS. Sep 26;103(39):14429-34., 2006

Zangerl, B. Goldstein, O., Philp, A.R., Lindauer, S.J., Pearce-Kelling, Mullins, R.F., Graphodatzky A.S., Ripoll, D., Felix, J.S., Stone, E.M., Acland, G.M., Aguirre, G.D.. (2006) Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics. 88 (5):551-63., 2006

Sundaresan, P., Sil, A.K., Philp, A.R., Randolph, M.A., Natchiar, G., Namperumalsamy, P. (2004) Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. Molecular Vision Dec 27;10:1005-10., 2004

Bellingham, J., Whitmore, D., Philp, A. R., Wells, D. J., Foster, R. G. (2002) Zebrafish melanopsin: isolation, tissue localization and phylogenetic position. Molecular Brain Research. 107:128-136. , 2002

Grant, S., Patel, N. N., Philp, A. R., Grey, C. N., Lucas, R. D., Foster, R. G., Bowmaker, J. K., Jeffery, G. (2001) Rod photopigment deficits in albinos are specific to mammals and arise during retinal development. Vis Neurosci 18(2): 245-51., 2001

Philp, A. R. Garcia-Fernandez, J. M. Soni, B. G. Lucas, R. J. Bellingham, J. Foster, R. G. (2000) Vertebrate ancient (VA) opsin and extraretinal photoreception in the Atlantic salmon (Salmo salar). Journal of Experimental Biology. 203(Pt 12):1925-1936., 2000

Philp A. R., Bellingham J., Garcia-Fernandez J. M., Foster R. G. (2000) A novel rod-like opsin isolated from the extra-retinal photoreceptors of teleost fish. FEBS Lett Feb 25;468(2-3):181-8, 2000

Soni B. G., Philp A. R., Foster R. G., Knox B. E. (1998) Novel retinal photoreceptors. Nature. Jul 2;394(6688):27-8, 1998