1 - 25 of 33 results for author:"Mullins R.F." in Literature citations
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| Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Mullins R.F., Kuehn M.H., Radu R.A., Enriquez G.S., East J.S., Schindler E.I., Travis G.H., Stone E.M. Invest. Ophthalmol. Vis. Sci. 53:1883-1894(2012) · Mapped (8) |
| Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1). Skeie J.M., Hernandez J., Hinek A., Mullins R.F. Matrix Biol. 31:113-119(2012) · Mapped (6) |
| Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Tucker B.A., Scheetz T.E., Mullins R.F., DeLuca A.P., Hoffmann J.M., Johnston R.M., Jacobson S.G., Sheffield V.C., Stone E.M. Proc. Natl. Acad. Sci. U.S.A. 108:E569-E576(2011) · UniProtKB (1) · Mapped (3) |
| T-cell immunoglobulin and mucin domain 1 (TIM-1) is a receptor for Zaire Ebolavirus and Lake Victoria Marburgvirus. Kondratowicz A.S., Lennemann N.J., Sinn P.L., Davey R.A., Hunt C.L., Moller-Tank S., Meyerholz D.K., Rennert P., Mullins R.F., Brindley M. et al. Proc. Natl. Acad. Sci. U.S.A. 108:8426-8431(2011) · Mapped (6) |
| Evaluation of variants in the selectin genes in age-related macular degeneration. Mullins R.F., Skeie J.M., Folk J.C., Solivan-Timpe F.M., Oetting T.A., Huang J., Wang K., Stone E.M., Fingert J.H. BMC Med. Genet. 12:58-58(2011) · Mapped (16) |
| Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Fingert J.H., Robin A.L., Stone J.L., Roos B.R., Davis L.K., Scheetz T.E., Bennett S.R., Wassink T.H., Kwon Y.H., Alward W.L. et al. Hum. Mol. Genet. 20:2482-2494(2011) · Mapped (2) |
| Angiogenin in age-related macular degeneration. Skeie J.M., Zeng S., Faidley E.A., Mullins R.F. Mol. Vis. 17:576-582(2011) · Mapped (1) |
| Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Kuehn M.H., Wang K., Roos B., Stone E.M., Kwon Y.H., Alward W.L., Mullins R.F., Fingert J.H. Mol. Vis. 17:430-435(2011) · Mapped (9) |
| Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Kinnick T.R., Mullins R.F., Dev S., Leys M., Mackey D.A., Kay C.N., Lam B.L., Fishman G.A., Traboulsi E., Iezzi R. et al. Retina (Philadelphia, Pa.) 31:581-595(2011) · Mapped (9) |
| Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Stone E.M., Cideciyan A.V., Aleman T.S., Scheetz T.E., Sumaroka A., Ehlinger M.A., Schwartz S.B., Fishman G.A., Traboulsi E.I., Lam B.L. et al. Arch. Ophthalmol. 129:81-87(2011) · Mapped (1) |
| Anti-gamma-enolase autoimmune retinopathy manifesting in early childhood. Ko A.C., Hernandez J., Brinton J.P., Faidley E.A., Mugge S.A., Mets M.B., Kardon R.H., Folk J.C., Mullins R.F., Stone E.M. Arch. Ophthalmol. 128:1590-1595(2010) · Mapped (4) |
| Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice. Thompson S., Stasheff S.F., Hernandez J., Nylen E., East J.S., Kardon R.H., Pinto L.H., Mullins R.F., Stone E.M. Invest. Ophthalmol. Vis. Sci. 52:618-623(2011) · Mapped (10) |
| Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Skeie J.M., Fingert J.H., Russell S.R., Stone E.M., Mullins R.F. Invest. Ophthalmol. Vis. Sci. 51:5336-5342(2010) · Mapped (4) |
| Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. Pretorius P.R., Baye L.M., Nishimura D.Y., Searby C.C., Bugge K., Yang B., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C. PLoS Genet. 6:E1000884-E1000884(2010) · UniProtKB (3) · Mapped (5) |
| Visual impairment in the absence of dystroglycan. Satz J.S., Philp A.R., Nguyen H., Kusano H., Lee J., Turk R., Riker M.J., Hernandez J., Weiss R.M., Anderson M.G. et al. J. Neurosci. 29:13136-13146(2009) · Mapped (4) |
| Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration. Mullins R.F., Faidley E.A., Daggett H.T., Jomary C., Lotery A.J., Stone E.M. Exp. Eye Res. 89:767-773(2009) · Mapped (6) |
| Predicting the pathogenicity of RPE65 mutations. Philp A.R., Jin M., Li S., Schindler E.I., Iannaccone A., Lam B.L., Weleber R.G., Fishman G.A., Jacobson S.G., Mullins R.F. et al. Hum. Mutat. 30:1183-1188(2009) · Mapped (3) |
| Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd). Thompson S., Mullins R.F., Philp A.R., Stone E.M., Mrosovsky N. Invest. Ophthalmol. Vis. Sci. 49:2737-2742(2008) · Mapped (10) |
| A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 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. et al. Proc. Natl. Acad. Sci. U.S.A. 104:19422-19427(2007) · Mapped (10) |
| Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Mullins R.F., Kuehn M.H., Faidley E.A., Syed N.A., Stone E.M. Invest. Ophthalmol. Vis. Sci. 48:3372-3380(2007) · Mapped (9) |
| Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Swiderski R.E., Nishimura D.Y., Mullins R.F., Olvera M.A., Ross J.L., Huang J., Stone E.M., Sheffield V.C. Invest. Ophthalmol. Vis. Sci. 48:3329-3340(2007) · Mapped (2) |
| Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. 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. Invest. Ophthalmol. Vis. Sci. 48:1959-1967(2007) · UniProtKB (1) |
| Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse. Pinto L.H., Vitaterna M.H., Shimomura K., Siepka S.M., Balannik V., McDearmon E.L., Omura C., Lumayag S., Invergo B.M., Glawe B. et al. Vis. Neurosci. 24:111-123(2007) · Mapped (4) |
| Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. 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. et al. Genomics 88:551-563(2006) · UniProtKB (5) |
| Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. Grassi M.A., Fingert J.H., Scheetz T.E., Roos B.R., Ritch R., West S.K., Kawase K., Shire A.M., Mullins R.F., Stone E.M. Hum. Mutat. 27:921-925(2006) · Mapped (5) |