Recent publications

 


Mullins, R.F., Faidley, E.A., Daggett, H.T., Jomary, C., Lotery, A.J., Stone, E.M. Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration. In press, Exp Eye Res


Skeie, J.M. and Mullins, R.F. (2009) Macrophages in neovascular age-related macular degeneration: friends or foes? Eye, 23(4):747-55. PubMed


Ennis, S., Jomary, C., Mullins, R., Cree, A., Chen, X., MacLeod, A., Jones, S., Collins, A., Stone, E., Lotery, A. (2008) Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study. The Lancet, 372(9652):1828-34. PubMed


Skeie, J.M. and Mullins, R.F. (2008) Elastin-mediated choroidal endothelial cell migration:  possible role in age-related macular degeneration. Investigative Ophthalmology and Visual Sciences, 49: 5574-80. PubMed


Thompson, S., Mullins, R.F., Philp,  A.R., Stone, E.M. and Mrosovsky, N. (2008) Divergent phenotypes among retinal disorders: vision and accessory visual function in Rpe65rd12 and rd/rd mice. Investigative Ophthalmology and Visual Sciences, 49:2737-42. PubMed


Jones, Y.J., Goins, K.M., Sutphin, J.E., Mullins, R.F., Skeie, J.M. (2008) Comparison of the femtosecond laser (Intralase) versus manual microkeratome (Moria ALTK) in dissection of the donor in endothelial keratoplasty: initial study in eye bank eyes. Cornea 27:88-93. PubMed


Mullins, R.F., Olvera, M.A., Clark, A.F., Stone, E.M. (2007) Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Experimental Eye Research 84:378-80. Article


Guziewicz, K.E., Zangerl, B., Lindauer, S.J., Mullins, R.F., Sandmeyer, L.S., Grahn, B.H., Stone, E.M., Acland, G.M., Aguirre, G.D. (2007) Bestrophin gene mutations cause canine multifocal retinopathy, a  novel animal model for Best disease. Investigative Ophthalmology and Visual Science 48:1959-67. Article


Swiderski, R.E., Nishimura, D.Y., Mullins, R.F., Olvera, M.A., Ross, J.L., Huang, J., Stone, E.M., and Sheffield, V.C. (2007) Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Investigative Ophthalmology and Visual Science 48:3329-40. Article


Bakall, B., Radu, R.A., Stanton, J.B., Burke, J.M., McKay, B.S., Wadelius, C., Mullins, R.F., Stone, E.M., Travis, G.H., Marmorstein, A.D. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Experimental Eye Research 85(1):34-43. PubMed


Mullins, R.F., Kuehn, M.H., Faidley, E.A., Syed, N.A., Stone, E.M. (2007) Differential macular and peripheral expression of bestrophin in human eyes and its implication for Best disease. Investigative Ophthalmology and Visual Science 48:3372-80. Article


Clapper, J.D., Skeie, J.M., Mullins, R.F., Guymon C.A. (2007) Development and characterization of photopolymerizable biodegradable materials from PEG-PLA-PEG block macromonomers. Polymer 48: 6554-64. Article


Ismail, A.R., Cate, C.A., Mullins, R.F., Manners, R.M., Lotery, A.J. (2007) Novel description of autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three generation family. Ophthalmic Plastic and Reconstructive Surgery 23:484-486. PubMed


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.M., Cassell, M.D., Stone, E.M., and Sheffield, V.C. (2007) A knock-in mouse model of the Bardet-Biedl syndrome1 M390R mutation has cilia defects, ventriculomegaly, retinopathy and obesity. Proceedings of the National Academy of Sciences of the USA 104:19422-7. Article


Yen, H-J, Tayeh, M.K., Mullins, R.F., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (2006) Bardet-Biedl Syndrome genes are important in retrograde intracellular trafficking and Kupffer’s vesicle cilia function. Human Molecular Genetics 15:667-77. Article


Mullins, R.F., Skeie, J.M., Malone, E.A., Kuehn, M.H. (2006) Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina. Molecular Vision 12:224-235. Article


Grassi, M.A., Fingert, J.H., Sheetz, T.E., Roos, B.R., Ritch, R., West, S.K., Kawase, K., Shire, A.M., Mullins, R.F., Stone, E.M. (2006) Ethnic variation in AMD-associated complement factor H polymorphism Tyr402His. Human Mutation 27:921-5. PubMed


Zangerl, B., Goldstein, O., Philp, A.R., Lindauer, S.J.P., Pearce-Kelling, S.E., Mullins, R.F., Graphodatsky, 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 (prcd) in dogs and retinitis pigmentosa in man. Genomics 88:551-63. PubMed


Chong, N.H.V., Keonin, J., Luthert, P.J., Frennesson, C.I., Weingeist, D.M., Wolf, R.L., Mullins, R.F., and Hageman, G.S.  (2005) Decreased thickness and integrity of the macular elastic layer of Bruch's membrane corresponds to the distribution of lesions associated with age-related macular degeneration. American Journal of Pathology 166: 241-51. Article


Fath, M.A., Mullins, R.F., Searby, C., Nishimura, D.Y., Wei, J., Rahmouni, K., Davis, R.E., Tayeh, M.K., Andrews, M., Yang, B., Sigmund, C.D., Stone, E.M., Sheffield, V.C. (2005) Mkks-null mice have a phenotype resembling Bardet-Biedl Syndrome. Human Molecular Genetics 14:1109-18. Article


Goverdhan, S.V., Howell, W.M., Mullins, R.F., Hodgkins, P.R., Self, J., Avery, K., Lotery, A.J. (2005) Association of HLA class I and class II polymorphisms with age-related macular degeneration. Invest Ophth Vis Sci 46: 1726-34. Article


Mullins, R.F, Grassi, M.A., Skeie, J.M. (2005) Glycoconjugates of choroidal neovascular membranes in age-related macular degeneration. Molecular Vision 11:509-17. Article


Pinto, L.H., Vitaterna, M.H., Shimomura, K., Siepka, S.M., McDearmon, E.L., Fenner, D., Lumayag, S.L., Omura, C., Andrews, A.W., Baker, M., Invergo, B.M., Olvera, M.A., Heffron, E., Mullins, R.F., Sheffield, V.C., Stone, E.M., Takahashi, J.S. (2005) Generation, characterization and molecular cloning of the Noerg-1 mutation in the mouse. Visual Neuroscience 22: 616-29. PubMed


Mullins, R.F., Oh, K.T., Heffron, E., Hageman, G.S., Stone, E.M. (2005) Late development of vitelliform lesions and flecks in a patient with Best’s disease: clinicopathologic correlation. Archives of Ophthalmology 123:1588-94. Article