Ophthalmology And Visual Sciences

Robert F. Mullins, MS, PhD

Portrait

Hansjoerg EJW Kolder, MD PhD, Professor in Best Disease Research
Professor of Ophthalmology and Visual Sciences
Professor of Molecular Physiology and Biophysics, Biophysics

Contact Information

Primary Office: 4135E  MERF
Iowa City, IA 52242
Primary Office Phone: 319-335-8222

Email: robert-mullins@uiowa.edu
Web: Chorioretinal Degenerations Laboratory

Education

BS, Biology, Wheaton College
MS, Biology, Saint Louis University
PhD, Cell and Molecular Biology, Saint Louis University

Post Doctoral, Center on Aging, The University of Iowa

Education/Training Program Affiliations

Biosciences Graduate Program
Interdisciplinary Graduate Program in Genetics

Research Summary

Our laboratory's primary research interests revolve around the structural and molecular basis for degenerative diseases of the retina, with particular focus on the retinal pigment epithelium in Best disease and the choriocapillaris in age-related macular degeneration. Best disease is a relatively rare but potentially devastating form of macular degeneration. Over one hundred different mutations in the responsible gene, VMD2/bestrophin, can result in this autosomal dominant disorder. Bestrophin most likely functions as a chloride channel and thus may regulate the ionic milieu in the subretinal space. We are using both in situ approaches and in vitro approaches to understand how specific mutations affect behavior of the mutant protein and to examine the regional distribution of the bestrophin protein in normal eyes, as well as to evaluate genotype-phenotype relationships for eyes with Best disease. Age-related macular degeneration (AMD) is a common cause of blindness that affects as many as one in three elderly individuals to some degree. With the increasing median age of the population, it is widely appreciated that the impact of AMD will worsen in the coming years. Recent genetic and histopathologic studies indicate that AMD is associated with inflammation, and there is strong evidence for leukocyte extravasation in the pathogenesis of the disease; however the role of the vasculature in recruiting leukocytes during these inflammatory events is poorly understood. The choriocapillaris is the capillary bed responsible for nourishing the photoreceptor cells of the retina, and is the most likely source for recruiting leukocytes in AMD. We are interested in determining the biological changes of the choriocapillaris in eyes with macular degeneration by examining human donor tissue, as well as cell surface molecules that differ between normal and neovascular endothelial cells. In addition to ?descriptive? studies in situ, we are interested in characterizing the molecular responses of human choroidal endothelial cells (cultured from human eyes) to the types of microenvironmental pro-inflammatory challenges that occur in macular degeneration, including exposure to complement components and products of extracellular matrix protein degradation. Molecular and functional assays of human choroidal EC are performed in the presence or absence of these ?AMD microenvironment? challenges. In addition we have several active collaborations in The University of Iowa, evaluating animal models of inherited retinal diseases, and assisting other faculty in answering histological questions in the eye.

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration
Center on Aging
Stephen A. Wynn Institute for Vision Research

All Publications

Schubert C, Pryds A, Zeng S, Xie Y, Freund K, Spaide R, Merriam J, Barbazetto I, Slakter J, Chang S, Munch I, Drack A, Hernandez J, Yzer S, Merriam J, Linneberg A, Larsen M, Yannuzzi L, Mullins R, Allikmets R.  Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy.  Hum Mutat.  2014. 35(7):859-67.
[PubMed]

Burnight E, Wiley L, Drack A, Braun T, Anfinson K, Kaalberg E, Halder J, Affatigato L, Mullins R, Stone E, Tucker B.  CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.  Gene Ther.  2014. 21(7):662-72.
[PubMed]

Tucker B, Solivan-Timpe F, Roos B, Anfinson K, Robin A, Wiley L, Mullins R, Fingert J.  Duplication of TBK1 Stimulates Autophagy in iPSC-derived Retinal Cells from a Patient with Normal Tension Glaucoma.  Journal of Stem Cell Research and Therapy.  2014. 4(1):Article 1000161.

Murinello S, Mullins R, Lotery A, Perry V, Teeling J.  Fcγ receptor upregulation is associated with immune complex inflammation in the mouse retina and early age-related macular degeneration.  Invest Ophthalmol Vis Sci.  2014. 55(1):247-58.
[PubMed]

Drack A, Mullins R, Pfeifer W, Augustine E, Stasheff S, Hong S.  Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).  Ophthalmic Genet.  2014. 
[PubMed]

Ardeljan D, Wang Y, Park S, Shen D, Chu X, Yu C, Abu-Asab M, Tuo J, Eberhart C, Olsen T, Mullins R, White G, Wadsworth S, Scaria A, Chan C.  Interleukin-17 retinotoxicity is prevented by gene transfer of a soluble interleukin-17 receptor acting as a cytokine blocker: implications for age-related macular degeneration.  PLoS One.  2014. 9(4):e95900.
[PubMed]

Mullins R, Khanna A, Schoo D, Tucker B, Sohn E, Drack A, Stone E.  Is age-related macular degeneration a microvascular disease? .  Adv Exp Med Biol.  2014. 801:283-9.
[PubMed]

Sohn E, Flamme-Wiese M, Whitmore S, Wang K, Tucker B, Mullins R.  Loss of CD34 Expression in Aging Human Choriocapillaris Endothelial Cells.  PLoS One.  2014. 9(1):e86538.
[PubMed]

Worthington K, Wiley L, Bartlett A, Stone E, Mullins R, Salem A, Guymon C, Tucker B.  Mechanical properties of murine and porcine ocular tissues in compression.  Exp Eye Res.  2014. 121:194-9.
[PubMed]

Thompson S, Blodi F, Lee S, Welder C, Mullins R, Tucker B, Stasheff S, Stone E.  Photoreceptor cells with profound structural deficits can support useful vision in mice.  Invest Ophthalmol Vis Sci.  2014. 55(3):1859-66.
[PubMed]

Tucker B, Mullins R, Stone E.  Stem Cells for Investigation and Treatment of Inherited Retinal Disease.  Hum Mol Genet.  2014. 
[PubMed]

Sohn E, Khanna A, Tucker B, Abramoff M, Stone E, Mullins R.  Structural and biochemical analyses of choroidal thickness in human donor eyes.  Invest Ophthalmol Vis Sci.  2014. 55(3):1352-60.
[PubMed]

Fingert J, Darboro B, Qian Q, Van Rheeden R, Miller K, Riker M, Solivan Timpe F, Roos B, Robin A, Mullins R.  TBK1 and flanking genes in human retina.  Ophthal Genet.  2014. 35(1):35-40.
[PubMed]

Tucker B, Anfinson K, Mullins R, Stone E, Young M.  Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation.  Stem Cells Transl Med.  2013 January 4. 2(1):16-24.

Whitmore S, Braun T, Skeie J, Haas C, Sohn E, Stone E, Scheetz T, Mullins R.  Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells.  Mol Vis.  2013. 19:2274-97.
[PubMed]

Bakall B, Riker M, Patankar P, Johnston R, Brack D, Riley J, Mullins R, Anderson M, Stone E.  Analysis of Phenotype in Mouse Models of Stargardt Disease for Identification of Modifying Genes.  ARVO Annual Meeting.  2013. 

Whitmore S, Zeng S, Daggett H, DeLuca A, Tucker B, Braun T, Mullins R, Stone E, Scheetz T.  Bioinformatic identification of altered splicing motifs resulting from the Alu insertion in exon 9 of the RP gene MAK.  ARVO Annual Meeting.  2013. 

Schoo D, Khanna A, Wang K, Streb M, Stone E, Mullins R.  Choroidal Vascular Pathology in Human Eyes with the Y402H Allele of Complement Factor H.  ARVO Annual Meeting.  2013. 

Sohn E, Jiao C, Mullins R, Jung W, Russell S, Stone E, Tucker B.  Comparison of intraocular retinal pigment epithelial (RPE) cell injections in vitrectomized wild type pigs.  ARVO Annual Meeting.  2013. 

Songstad A, Burnright E, Mullins R, Stone E, Andorf J, Streb L, Lu X, Tucker B.  Development of BEST1 reporter constructs for use in iPSC based high throughput drug screens and disease modeling.  ARVO Annual Meeting.  2013. 

Wagner A, Anand N, Wang W, Chatterton J, Sun D, Shepard A, Jacobson N, Pang I, Deluca A, Casavant T, Scheetz T, Mullins R, Braun T, Clark A.  Exon-level expression profiling of ocular tissues.  Exp Eye Res.  2013. 111:105-11.
[PubMed]

Blodi F, Shankar M, Singh P, Mullins R, Andrews M, Stone E, Thompson S, Stasheff S.  Gap Junctions Propagate Melanopsin-like Responses among Ganglion Cells in Efemp1R345W Mice.  ARVO Annnual Meeting.  2013. 

Burnight E, Kaalberg E, Eyestone M, Hoffman J, Haas C, Mullins R, Stone E, Tucker B.  Gene Therapy for CEP290-associated LCA in Patient-Derived Induced Pluripotent Stem Cells.  ARVO Annual Meeting.  2013. 

Mullins R, Khanna A, Wang K, Riker M, Stone E, Sohn E.  Human choroidal thickness: Relationship to protease inhibitors.  ARVO Annual Meeting.  2013. 

Abramoff M, Mullins R, Lee K, Hoffmann J, Sonka M, Critser D, Stasheff S, Stone E.  Human Photoreceptor Outer Segments Shorten During Light Adaptation.  Invest Ophthalmol Vis Sci.  2013. 54(5):3721-8.

Drack A, Bhattarai S, Stone E, Wang K, Gratie D, Heon E, Sheffield V, Mullins R.  Increasing body weight correlates with loss of ERG in mice with Bardet Biedl Syndrome.  ARVO Annual Meeting.  2013. 

Tucker B, Mullins R, Anfinson K, Affatigato L, Halder J, Brzeskiewicz P, Stone E.  Investigating the pathophysiology of USH2A associated retinal degeneration with patient specific iPSCs.  ARVO Annual Meeting.  2013. 

Fernandez de Castro J, Mullins R, Manea A, Hernandez J, Wallen T, Kuehn M.  Lipofuscin in Human Glaucomatous Optic Nerves.  Exp Eye Res.  2013. 111:61-6.
[PubMed]

Sohn E, Mullins R, Stone E.  Macular Dystrophies.  Saunders Elsevier.  2013. 

Gratie D, Stone E, East J, Mullins R, Drack A.  Mutation analysis in patients suspected to have PAX6-related ocular malformations.  ARVO Annual Meeting.  2013. 

Braun T, Mullins R, Wagner A, Andorf J, Johnston R, Bakall B, Deluca A, Fishman G, Lam B, Weleber R, Cideciyan A, Jacobson S, Sheffield V, Tucker B, Stone E.  Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.  Hum Mol Geent.  2013. 22(25):5136-45.
[PubMed]

Bhattarai S, Gratie D, Stunkel M, Anderson M, Mullins R, Drack A.  Optical Coherence Tomography (OCT) and histologic examination of a mouse model of chorioretinal coloboma.  ARVO Annual Meeting.  2013. 

Tucker B, Mullins R, Streb L, Anfinson K, Eyestone M, Kaalberg E, Riker M, Drack A, Braun T, Stone E.  Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.  eLife.  2013. 2:e00824.
[PubMed]

Wagner A, Taylor K, DeLuca A, Casavant T, Stone E, Mullins R, Scheetz T, Braun T.  Positive and Unlabeled Learning for Prioritizing Candidate Variants in Retinal Degenerative Diseases.  ARVO Annual Meeting.  2013. 

Wagner A, Taylor K, Deluca A, Casavant T, Mullins R, Stone E, Scheetz T, Braun T.  Prioritization of Retinal Disease Genes: An Integrative Approach.  Hum Mutat.  2013. 34(6):853-9.
[PubMed]

Tien T, Muto T, Sohn E, Mullins R, Roy S.  Reduced Connexin 43 (Cx43) plays a role in the development of vascular lesions in human diabetic retinopathy.  ARVO Annual Meeting.  2013. 

Drack A, Mullins R, Seo S.  Retinitis Pigmentosa Syndromes: Bardet-Biedl Syndrome.  Lippincott.  2013. 

Christopher M, Scheetz T, Mullins R, Abràmoff M.  Selection of phototransduction genes in Homo Sapiens.  Invest Ophthalmol Vis Sci.  2013. 54(8):5489-96.
[PubMed]

Seo S, Mullins R, Dumitrescu A, Bhattarai S, Gratie D, Wang K, Stone E, Sheffield V, Drack A.  Subretinal gene therapy of mice with Bardet-Biedl syndrome type I.  Invest Ophthalmol Vis Sci.  2013. 54(9):6118-32.
[PubMed]

Braun T, Wagner A, DeLuca A, Casavant T, Scheetz T, Clark A, Mullins R, Stone E.  The Ocular Tissue Database.  ARVO Annual Meeting.  2013. 

Murinello S, Lotery A, Perry V, Mullins R, Teeling J.  The role of Fcγ receptors in immune-complex-mediated inflammation in the retina: implications for early age related macular degeneration.  ARVO Annual Meeting.  2013. 

Fingert J, Miller K, Solivan-Timpe F, Roos B, Robin A, Mullins R, Anderson M.  Transgenic TBK1 mouse develops signs of normal tension glaucoma.  ARVO Annual Meeting.  2013. 

Tucker B, Anfinson K, Mullins R, Stone E, Young M.  Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation.  Stem Cells Translational Medicine.  2013. 2(1):16-24.
[PubMed]

Strunkel M, Bhattarai S, Stone E, Wang K, Mullins R, Drack A.  Vitritis in pediatric retinal degenerations.  ARVO Annual Meeting.  2013. 

Kay C, Abramoff M, Mullins R, Kinnick T, Lee K, Eyestone M, Chung M, Sohn E, Stone E.  Three-dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients With Best Vitelliform Macular Dystrophy.  Archives of Ophthalmology.  2012 November 14. 130(3):357-364.

Zhang L, Lee K, Niemeijer M, Mullins R, Sonka M, Abramoff M.  Automated Segmentation of the Choroid from Clinical SD-OCT.  Invest Ophthalmol Vis Sci.  2012 November 1. 53(12):7510-7519.
[Link]

Schweitzer D, Gaillard E, Dillon J, Mullins R, Russell S, Hoffmann B, Peters S, Hammer M, Biskup C.  Time-resolved autofluorescence imaging of human donor retina tissue from donors with significant extramacular drusen.  Invest Ophthalmol Vis Sci.  2012 April 19. 53(7):3376-86.

Mao M, Solivan-Timpe F, Roos B, Mullins R, Oetting T, Kwon Y, Brzeskiewicz P, Stone E, Alward W, Anderson M, Fingert J.  Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.  Mol Vis.  2012 April 18. 18:705-13.

Mullins R, Kuehn M, Radu R, Enriquez G, East J, Schindler E, Travis G, Stone E.  Autosomal Recessive Retinitis Pigmentosa Due To ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization.  Investigative Ophthalmology and Visual Science.  2012 April. 53(4):1883-94.

Skeie J, Hernandez J, Hinek A, Mullins R.  Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1)..  Matrix biology : journal of the International Society for Matrix Biology.  2012 March. 31(2):113-9.
[PubMed]

Zeng S, Hern��ndez J, Mullins R.  Effects of antioxidant components of AREDS vitamins and zinc ions on endothelial cell activation: implications for macular degeneration..  Investigative ophthalmology & visual science.  2012 February. 53(2):1041-7.
[PubMed]

Stone E, Mullins R, Tucker B, Wagner A, Braun T, East J, Scheetz T.  Alternative Splicing of Exon 12 of the Male Germ Cell Associated Kinase Gene (MAK) Results in a Cone-specific Isoform.  ARVO Annual Meeting.  2012. 

Whitmore S, Braun T, Scheetz T, Khanna A, Affatigato L, Stone E, Mullins R.  ARMS2 A69S Associated Alternative Splicing and Differential Gene Expression in Human RPE/Choroid.  ARVO Annual Meeting.  2012. 

Mullins R, Sohn E.  Bruch's Membrane, the Critical Barrier in AMD .  InTech Publishing.  2012. 
[Link]

Guziewicz K, Cideciyan A, Beltran W, Zangerl B, Slavik J, Iwabe S, Boesze-Battaglia K, Mullins R, JAcobson S, Aguirre G.  Canine Bestrophinopathies: Lesion Morphology and Molecular Pathology.  ARVO Annual Meeting.  2012. 

Burnight E, Kaalberg E, Moses B, Halder J, Daggett H, Mullins R, Stone E, Tucker B.  LCA Gene Therapy In Somatic-Cell-Derived Induced Pluripotent Stem Cells.  ARVO Annual Meeting.  2012. 

Sohn E, Mullins R, Stone E.  Macular Dystrophies.  5. Saunders/Elsevier;  2012.

Blodi F, Stasheff S, Thompson S, Shankar M, Mullins R, Andrews M, Stone E.  More Numerous Photosensitive Ganglion Cells In A Macular Degeneration.  ARVO Annual Meeting.  2012. 

Wagner A, DeLuca A, Casavant T, Scheetz T, Stone E, Mullins R, Braun T.  RNA Sequencing for Identification of Genetic Factors in Retinal Disease.  ARVO Annual Meeting.  2012. 

Drack A, Bhattarai S, Seo S, Gratie D, Stone E, Mullins R, Sheffield V.  Subretinal gene therapy in Bbs1 mice.  ARVO Annual Meeting.  2012. 

Tucker B, Anfinson K, Andorf J, Streb L, Scheetz T, Mullins R, Stone E.  Targeting Human Mak Mutant iPSCs For In Vitro Gene Replacement.  ARVO Annual Meeting.  2012. 

Whitmore S, Mullins R.  Transcriptome changes in age-related macular degeneration..  BMC medicine.  2012. 10:21.
[PubMed]

Kay C, Abramoff M, Mullins R, Kinnick T, Lee K, Eyestone M, Chung M, Sohn E, Stone E.  Three Dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients with Best Vitelliform Macular Dystrophy.  Arch Ophthalmol.  2011 November 14. 

Tucker B, Scheetz T, Mullins R, Deluca A, Hoffmann J, Johnston R, Jacobson S, Sheffield V, Stone E.  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.  Proc Natl Acad Sci USA.  2011 August 23. 108(34):569-576.

Mullins R, Dewald A, Streb L, Wang K, Kuehn M, Stone E.  Elevated membrane attack complex in human choroid with high risk complement factor H genotypes.  Experimental Eye Research.  2011 June 26. 93(4):565-567.

Fingert J, Robin A, Stone J, Roos B, Davis L, Scheetz T, Bennett S, Wassink T, Kwon Y, Alward W, Mullins R, Sheffield V, Stone E.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma..  Human molecular genetics.  2011 June. 20(12):2482-94.
[PubMed]

Ko A, Brinton J, Mahajan V, Zimmerman B, Brinton G, Stone E, Folk J, Mullins R.  Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis..  Archives of ophthalmology.  2011 April. 129(4):415-20.
[PubMed]

Kinnick T, Mullins R, Dev S, Leys M, Mackey D, Kay C, Lam B, Fishman G, Traboulsi E, Lezzi R, Stone E.  Autosomal Recessive Vitelliform Macular Dystrophy in a Large Cohort of Vitelliform Macular Dystrophy Patients.  Retina.  2011 March. 31(3):581-595.

Mullins R, Johnson M, Faidley E, Skeie J, Huang J.  Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration..  Investigative ophthalmology & visual science.  2011 March. 52(3):1606-12.
[PubMed]

Kuehn M, Wang K, Roos B, Stone E, Kwon Y, Alward W, Mullins R, Fingert J.  Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort.  Molecular Vision.  2011 February 8. 17:430-5.

Thompson S, Stasheff S, Hernandez J, Nylen E, East J, Kardon R, Pinto L, Mullins R, Stone E.  Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice.  Invest Ophthalmol Vis Sci.  2011 February 1. 52(1):618-623.

Folk J, Abramoff M, Orien J, Christopher M, Scheetz T, Mullins R, Eyestone M, East J, Russell S, Boldt H, Schindler E, Mahajan V, Stone E.  AMD Risk Alleles and Response to Treatment with Anti-VEGF Agents.  ARVO Annual Meeting.  2011. 

Skeie J, Zeng S, Faidley E, Mullins R.  Angiogenin in age-related macular degeneration..  Molecular vision.  2011. 17:576-82.
[PubMed]

Fingert J, Robin A, Stone J, Roos B, Davis L, Scheetz T, Bennett S, Wassink T, Kwon Y, Alward W, Mullins R, Sheffield V, Stone E.  Copy Number Variations on Chromosome 12q14 in Patients with Normal Tension Glaucoma.  Hum Mol Genet.  2011. 20(12):2482-94.

Zheng S, Mullins R.  Effects of AREDS vitamins on endothelial cell activation: possible implications for AMD.  ARVO Annual Meeting.  2011. 

Mullins R, Fingert J, Johnson M, Folk J, Stone E.  Evaluation of Morphologic Features of AMD related to ARMS2 A69S Genotype.  ARVO Annual Meeting.  2011. 

Mullins R, Skeie J, Folk J, Solivan-Timpe F, Oetting T, Huang J, Wang K, Stone E, Fingert J.  Evaluation of Variants in the Selectin Genes in Age-Related Macular Degeneration.  BMC Med Genet.  2011. 

Mullins R, Skeie J, Folk J, Solivan-Timpe F, Oetting T, Huang J, Wang K, Stone E, Fingert J.  Evaluation of variants in the selectin genes in age-related macular degeneration..  BMC medical genetics.  2011. 12:58.
[PubMed]

Drack A, Mullins R, Dumitrescu A, Seo S, Thompson S, Riker M, NIsimura D, Sheffield V, Stone E.  Light reduction, neuroprotection, and subretinal gene therapy in a mouse model of Bardet Biedl syndrome.  ARVO Annual Meeting.  2011. 

Bingaman D, Hernandez J, Romano C, Mullins R.  Molecular Characterization of Subretinal Fibrosis in Human Eyes with AMD.  ARVO Annual Meeting.  2011. 

Ko A, Brinton J, Mahajan V, Zimmerman B, Brinton G, Stone E, Folk J, Mullins R.  Seroreactivity Against Aqueous-Soluble and Detergent-Soluble Retinal Proteins in Posterior Uveitis.  Archives of Ophthalmology.  2011. 

Kondratowicz A, Lennemann N, Sinn P, Davey R, Hunt C, Moller-Tank S, Meyerholz D, Rennert P, Mullins R, Brindley M, Sandersfeld L, Quinn K, Weller M, McCray P, Chiorini J, Maury W.  T-Cell Immunoglobulin and Mucin Domain 1 (TIM-1) is a Receptor for Zaire Ebolavirus and Lake Victoria Marburgvirus.  Proc Natl Aca Sci USA.  2011. 108(20):8426-8431.

Stone E, Cideciyan A, Aleman T, Scheetz T, Sumaroka A, Ehlinger M, Schwartz S, Fishman G, Traboulsi E, Lam B, Fulton A, Mullins R, Sheffield V, Jacobson S.  Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome..  Archives of ophthalmology.  2011 January. 129(1):81-7.
[PubMed]

Ko A, Hern��ndez J, Brinton J, Faidley E, Mugge S, Mets M, Kardon R, Folk J, Mullins R, Stone E.  Anti-gamma-enolase autoimmune retinopathy manifesting in early childhood..  Archives of ophthalmology.  2010 December. 128(12):1590-5.
[PubMed]

Skeie J, Fingert J, Russell S, Stone E, Mullins R.  Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells..  Investigative ophthalmology & visual science.  2010 October. 51(10):5336-42.
[PubMed]

Kay C, Mullins R, Kinnick T, Stone E.  Morphology of the vitelliform lesion in Best disease.  American Society of Retina Specialists.  2010 August. 

Mullins R, Faidley E, Skeie J.  Ghost vessels in the human macula: relationship to drusen and early AMD.  International Society for Eye Research biannual meeting.  2010 July 20. 

Pretorius P, Baye L, Nishimura D, Searby C, Bugge K, Yang B, Mullins R, Stone E, Sheffield V, Slusarski D.  Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform..  PLoS genetics.  2010 March. 6(3):e1000884.
[PubMed]

Drack A, Mullins R, Thompson S, Kinnick T, Bugge K, Nishimura D, Stone E, Sheffield V.  Characterization of ocular phenotype in mouse models of Bardet Biedl Syndrome and feasibility study for subretinal gene therapy.  ARVO annual meeting.  2010. 

SKeie J, Hernandez J, Mullins R.  Chorioretinal cell responses to elastin fragments.  ARVO annual meeting.  2010. 

Mullins R, Faidley E, Skeie J, Johnson M, Huang J.  Choroidal endothelial cells in macular degeneration: gene expression and choriocapillaris dropout associated with drusen density.  ARVO annual meeting.  2010. 

Fernandez de Castro J, Mullins R, Hernandez J, Kuehn M.  Elevated Deposition of Lipofuscin in Glaucomatous Optic Nerves.  ARVO annual meeting.  2010. 

Mullins R, Skeie J.  Essentials of Retinal Morphology.  Humana Press.  2010. 

Mahajan V, Vallone J, Lin J, Mullins R, Ko A, Folk J, Stone E.  T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy..  Molecular vision.  2010. 16:1034-40.
[PubMed]

Mullins R, Faidley E, Daggett H, Jomary C, Lotery A, Stone E.  Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration..  Experimental eye research.  2009 November. 89(5):767-73.
[PubMed]

Satz J, Philp A, Nguyen H, Kusano H, Lee J, Turk R, Riker M, Hern��ndez J, Weiss R, Anderson M, Mullins R, Moore S, Stone E, Campbell K.  Visual impairment in the absence of dystroglycan..  The Journal of neuroscience : the official journal of the Society for Neuroscience.  2009 October. 29(42):13136-46.
[PubMed]

Philp A, Jin M, Li S, Schindler E, Iannaccone A, Lam B, Weleber R, Fishman G, Jacobson S, Mullins R, Travis G, Stone E.  Predicting the pathogenicity of RPE65 mutations..  Human mutation.  2009 August. 30(8):1183-8.
[PubMed]

Ko A, Faidley E, East J, Eyestone M, Johnston R, Mugge S, Mullins R, Stone E.  A Case of Autoimmune Retinopathy Associated With Anti-γ-Enolase Autoantibodies.  ARVO annual meeting.  2009. 

Skeie J, Hedberg-Buenz A, Faidley E, Mullins R.  Complement System Component C5a and Choroidal Endothelial Cell Activation.  ARVO annual meeting.  2009. 

Somani R, Russell S, Folk J, Boldt H, Gehrs K, Mullins R, Mahajan V.  Immunohistochemical Study of Diamond-Dusted Tano Scratchers After Macular Surgery.  ARVO annual meeting.  2009. 

Skeie J, Mullins R.  Macrophages in Neovascular Age-Related Macular Degeration: Friends or Foes?.  Eye.  2009. 23(4):747-55.

Mullins R, Schindler E, Enriquez G, Faidley E, Kuehn M, Stone E.  Morphology and Gene Expression Analysis of ABCA4-associated Retinitis Pigmentosa.  ARVO annual meeting.  2009. 

Thompson S, Riker M, Hernandez J, Owens J, Halder J, Pham J, Pierce E, Mullins R, Stone E.  Selective Disruption of Non-Visual Responses to Light in a Mouse Model of Malattia Leventinese.  ARVO annual meeting.  2009. 

Gandhi N, Goins K, Mullins R, Enriquez G.  The Effect of Shipping on Endothelial Cell Viability After Laser Assisted Keratoplasty Donor Preparation.  ARVO annual meeting.  2009. 

Skeie J, Mullins R.  Elastin-mediated choroidal endothelial cell migration: possible role in age-related macular degeneration..  Investigative ophthalmology & visual science.  2008 December. 49(12):5574-80.
[PubMed]

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

Thompson S, Mullins R, Philp A, Stone E, Mrosovsky N.  Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd)..  Investigative ophthalmology & visual science.  2008 June. 49(6):2737-42.
[PubMed]

Mullins R, Enriquez S, Faidley E, Schindler E, Kuehn M, Stone E.  Anatomic and molecular changes in retinitis pigmentosa.  American Society for Cell Biology Annual Meeting.  2008. 

Skeie J, Kuehn M, Fishbaugh J, Mullins R.  Choroidal Endothelial Cell Responses to Elastin Fragments.  ARVO annual meeting 2008.  2008. 

Kinnick T, Andorf J, East J, Eyestone M, Mugge S, Mullins R, Lam B, Heckenlively J, Fishman G, Stone E.  Compound Heterozygous Inheritance of Best Vitelliform Macular Dystrophy.  ARVO annual meeting 2008.  2008. 

Skeie J, Fishbaugh J, Mullins R.  Elastin fragments activate choroidal endothelial cells.  American Society for Cell Biology Annual Meeting.  2008. 

Enriquez G, Faidley E, Mullins R.  Histopathology and microarray analysis of autosomal recessive retinitis pigmentosa.  2008 Annual Biomedical Research Conference for Minority Students.  2008. 

Damarjian T, Fingert J, Mullins R, Ehrlinger M, Owens J, Hoffman J, Folk J, Mahajan V, Stone E.  Immunological Basis of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).  ARVO annual meeting 2008.  2008. 

Philp A, Zhang Q, Mullins R, Searby C, Nishimura D, Yang B, Stone E, Sheffield V.  Multigenic Heteroygous Mutations in Bbs1/bbs7 Result in Pathogenic Phenotypes in Mice.  ARVO 2008 annual meeting.  2008. 

Thompson S, Philp A, Mullins R, Streb L, Affatigato L, Johnston R, Scheibe-Owens J, Owings A, Mrosovsky N, Stone E.  Useful Vision in Mice Lacking Photoreceptor Outer-Segments.  ARVO 2008 annual meeting.  2008. 

Jones Y, Goins K, Sutphin J, Mullins R, Skeie J.  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.  2008 January. 27(1):88-93.
[PubMed]

Davis R, Swiderski R, Rahmouni K, Nishimura D, Mullins R, Agassandian K, Philp A, Searby C, Andrews M, Thompson S, Berry C, Thedens D, Yang B, Weiss R, Cassell M, Stone E, Sheffield V.  A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity..  Proceedings of the National Academy of Sciences of the United States of America.  2007 December. 104(49):19422-7.
[PubMed]

Ismail A, Cates C, Mullins R, Manners R, Lotery A.  Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family..  Ophthalmic plastic and reconstructive surgery.  2007 November. 23(6):484-6.
[PubMed]

Mullins R, Kuehn M, Faidley E, Syed N, Stone E.  Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease..  Investigative ophthalmology & visual science.  2007 July. 48(7):3372-80.
[PubMed]

Bakall B, Radu R, Stanton J, Burke J, McKay B, Wadelius C, Mullins R, Stone E, Travis G, Marmorstein A.  Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)..  Experimental eye research.  2007 July. 85(1):34-43.
[PubMed]

Swiderski R, Nishimura D, Mullins R, Olvera M, Ross J, Huang J, Stone E, Sheffield V.  Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage..  Investigative ophthalmology & visual science.  2007 July. 48(7):3329-40.
[PubMed]

Guziewicz K, Zangerl B, Lindauer S, Mullins R, Sandmeyer L, Grahn B, Stone E, Acland G, Aguirre G.  Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease..  Investigative ophthalmology & visual science.  2007 May. 48(5):1959-67.
[PubMed]

Mullins R, Olvera M, Clark A, Stone E.  Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration..  Experimental eye research.  2007 February. 84(2):378-80.
[PubMed]

Jones Y, Goins K, Locke G, Schmidt G, Reed C, Mullins R, Sutphin J.  A 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).  ARVO 2007 Annual Meeting.  2007. 

Hageman G, Mullins R.  Association of Major Histocompatibility Class II Antigens with Core Subdomains Present Within Human Ocular Drusen.  Taylor & Francis Medical Books.  2007. 

Guziewicz K, Zangerl B, Lindauer S, Mullins R, Sandmeyer L, Grahn B, Stone E, Acland G, Aguirre G.  Bestrophin gene mutations cause canine multifocal retinopathy.  ARVO 2007 Annual Meeting.  2007. 

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

Thompson S, Philp A, Mullins R, Peirson S, Olvera M, Janutka J, East J, Stone E, Mrosovksy N.  Distinct visual response phenotypes of rod and cone degenerations in mice.  ARVO 2007 Annual Meeting.  2007. 

Skeie J, Faidley E, Mullins R.  Elastin-mediated choroidal endothelial cell migration.  Poster presentation ARVO 2007 annual meeting.  2007. 

Mullins R.  Genetic Insights into the Pathobiology of Age-Related Macular Degeneration.  International Ophthalmology Clinics.  2007. 47:1-14.

Johnson S, Mullins R, Nerad J, Syed N.  Immunohistochemistry of Ocular Adnexal Vascular Lesions – distinguishing lymphatic versus blood vessel origins using LYVE-1, D2-40 and podoplanin.  ARVO 2007 Annual Meeting.  2007. 

Mullins R, Kuehn M, Faidley E, Olvera M, Syed N, Stone E.  Macular and peripheral expression of bestrophin in human eyes: potential significance to the pathophysiology of Best disease.  ARVO 2007 annual meeting.  2007. 

Pinto L, Vitaterna M, Shimomura K, Siepka S, Balannik V, McDearmon E, Omura C, Lumayag S, Invergo B, Glawe B, Cantrell D, Inayat S, Olvera M, Vessey K, McCall M, Maddox D, Morgans C, Young B, Pletcher M, Mullins R, Troy J, Takahashi J.  Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse..  Visual neuroscience.  2007 January. 24(1):111-23.
[PubMed]

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

Grassi M, Fingert J, Scheetz T, Roos B, Ritch R, West S, Kawase K, Shire A, Mullins R, Stone E.  Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His..  Human mutation.  2006 September. 27(9):921-5.
[PubMed]

Yen H, Tayeh M, Mullins R, Stone E, Sheffield V, Slusarski D.  Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function..  Human molecular genetics.  2006 March. 15(5):667-77.
[PubMed]

Davis R, Agassandian , Rahmouni K, Mullins R, Philp A, Searby C, Nishimura D, Andrews M, Tayeh M, Cassell M, Yang B, Stone E, Sheffield V.  A Bardet-Biedl syndrome type 1 (BBS1) M390R mouse model results in ventriculomegaly, leptin resistance and a defect in regulation of neuronal cilia synthesis.  American Society for Human Genetics Meeting 2006.  2006. 

Mullins R, Skeie J, Olvera M, Malone E.  Angiogenin localization in aging human eyes and choroidal neovascular membranes in age-related macular degeneration.  Poster presentation ARVO 2006 annual meeting.  2006. 

Tayeh M, Yen H, Mullins R, Chiang A, Beck J, Searby C, Westfall T, Griesback G, Stone E, Slusarski D, Sheffield V.  Demonstration of genetic interactions between TRIM32 and other Bardet-Biedl Syndrome genes.  American Society for Human Genetics Meeting 2006.  2006. 

Pinto L, Vitaterna M, Shimomura K, Young B, Siepka S, Sheffield V, Stone E, Mullins R, Pletcher M, Takahashi J.  ENU-Induced nob4 mutant mouse available to the vision research community.  Poster presentation ARVO 2006 annual meeting.  2006. 

Grassi M, Fingert J, Folk J, Scheetz T, Shire A, Ritch R, West S, Kawase K, Mullins R, Stone E.  Ethnic and phenotypic frequencies of complement factor H polymorphism Y402H.  Poster presentation ARVO 2006 annual meeting.  2006. 

Mullins R, Skeie J, Malone E, Kuehn M.  Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina..  Molecular vision.  2006. 12:224-35.
[PubMed]

Philp A, Mullins R, Searby C, Nishimura D, Ehrlinger M, East J, Johnston R, Yang B, Stone E, Sheffield V.  Retinal characterization of a mouse homozygous for the mutation that is the most common cause of Bardet-Biedl Syndrome in man: Met390Arg in BBS1.  Poster presentation at ARVO 2006 annual meeting.  2006. 

Mullins R, Oh K, Heffron E, Hageman G, Stone E.  Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation..  Archives of ophthalmology.  2005 November. 123(11):1588-94.
[PubMed]

Pinto L, Vitaterna M, Shimomura K, Siepka S, McDearmon E, Fenner D, Lumayag S, Omura C, Andrews A, Baker M, Invergo B, Olvera M, Heffron E, Mullins R, Sheffield V, Stone E, Takahashi J.  Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse..  Visual neuroscience.  2005 September. 22(5):619-29.
[PubMed]

Mullins R, Grassi M, Skeie J.  Glycoconjugates of choroidal neovascular membranes in age-related macular degeneration..  Molecular vision.  2005 July. 11:509-17.
[PubMed]

Goverdhan S, Howell M, Mullins R, Osmond C, Hodgkins P, Self J, Avery K, Lotery A.  Association of HLA class I and class II polymorphisms with age-related macular degeneration..  Investigative ophthalmology & visual science.  2005 May. 46(5):1726-34.
[PubMed]

Fath M, Mullins R, Searby C, Nishimura D, Wei J, Rahmouni K, Davis R, Tayeh M, Andrews M, Yang B, Sigmund C, Stone E, Sheffield V.  Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome..  Human molecular genetics.  2005 May. 14(9):1109-18.
[PubMed]

Clapper J, Mullins R, Russell S, Guymon C.  Characterization of nano-structured polymers for fabricating and ocular microvascular stent.  ARVO Annual Meeting.  2005. 

Swiderski R, Nishimura D, Mullins R, Andrews M, Stone E, Sheffield V.  Gene expression analysis of photoreceptor cell loss in a mouse model of Bardet Biedl Syndrome 4 (Bbs4).  ARVO Annual Meeting.  2005. 

Mullins R, Malone E, Olvera M, Kuehn M.  Macular-peripheral variability of ICAM-1 in retina and choroid.  ARVO Annual Meeting.  2005. 

Pinto L, Vitaterna M, Shimomura K, Siepka S, Sheffield V, Stone E, Mullins R, Takahashi J.  Molecular cloning of the Noerg-1 mutation in mouse shows mutagenesis can generate valid disease models.  ARVO Annual Meeting.  2005. 

Davis R, Yen H, Tayeh M, Mullins R, Fath M, Searby C, Nishimura D, Yang B, Slusarski D, Sheffield V.  The common Bardet-Biedl syndrome type 1 (BBS1) M390R mutation is a hypomorphic allele that protects against embryonic lethality and cardiovascular defects.  American Society for Human Genetics Meeting.  2005. 

Chong N, Keonin J, Luthert P, Frennesson C, Weingeist D, Wolf R, Mullins R, Hageman G.  Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration..  The American journal of pathology.  2005 January. 166(1):241-51.
[PubMed]

Pinto L, Vitaterna M, Siepka S, Shimomura K, Lumayag S, Baker M, Fenner D, Mullins R, Sheffield V, Stone E, Heffron E, Takahashi J.  Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus..  Vision research.  2004 December. 44(28):3335-45.
[PubMed]

Nishimura D, Fath M, Mullins R, Searby C, Andrews M, Davis R, Andorf J, Mykytyn K, Swiderski R, Yang B, Carmi R, Stone E, Sheffield V.  Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin..  Proceedings of the National Academy of Sciences of the United States of America.  2004 November. 101(47):16588-93.
[PubMed]

Fath M, Mullins R, Nishimura D, Searby C, Andrews M, Yang B, Stone E, Sheffield V.  Characterization of Bardet-Biedl Syndrome 2 (Bbs2) knockout mice indicates a defect in intracellular transport.  American Society for Human Genetics meeting.  2004 October 30. 

Tayeh M, Yen H, Andrews M, Fath M, Mullins R, Nishimura D, Searby C, Yang B, Stone E, Sheffield V.  Mkks-null mice have a phenotype closely resembling Bardet-Biedl Syndrome (BBS).  American Society for Human Genetics meeting.  2004 October 30. 

Mykytyn K, Mullins R, Andrews M, Chiang A, Swiderski R, Yang B, Braun T, Casavant T, Stone E, Sheffield V.  Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly..  Proceedings of the National Academy of Sciences of the United States of America.  2004 June. 101(23):8664-9.
[PubMed]

Russell S, Gupta R, Folk J, Mullins R, Hageman G.  Comparison of color to fluorescein angiographic images from patients with early-adult onset grouped drusen suggests drusen substructure..  American journal of ophthalmology.  2004 May. 137(5):924-30.
[PubMed]

Satz J, Moore S, Barresi R, Eastman C, Ross-Barta S, Westra S, Patterson M, Mullins R, Stone E, Campbell K.  Complete loss of dystroglycan in the mouse CNS causes brain and eye defects similar to congenital muscular dystrophies Program No. 492.18. 2004.  San Diego: Society for Neuroscience.  2004. 

Pinto L, Vitaterna M, Siepka S, Shimomura K, Kibbe W, Mullins R, Heffron E, Stone E, Sheffield V, Takahashi J.  Mapping and characterization of the Noerg-1 mutation in mouse.  ARVO 2004 Annual Meeting.  2004. 

Mullins R.  New Insights into Animal Models for Blinding Diseases.  Currents in Medicine and Health Care.  2004. 5:15-16.

Lotery A, Cates C, Manners R, Goverdhan S, Avery K, Mullins R.  Novel description of autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three generation family.  ARVO 2004 Annual Meeting.  2004. 

Mykytyn K, Mullins R, Nishimura D, Searby C, Andrews M, Yang B, Stone E, Sheffield V.  Characterization of a mouse model for Bardet-Biedl Syndrome type 4.  American Society for Human Genetics meeting.  2003 November 8. 

Lotery A, Yang G, Mullins R, Russell S, Schmidt M, Stone E, Lindbloom J, Chiorini J, Kotin R, Davidson B.  Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina..  Human gene therapy.  2003 November. 14(17):1663-71.
[PubMed]

Pinto L, Lumayag S, Grabowski N, Vitaterna M, Mullins R, Heffron E, Sheffield V, Stone E, Siepka S, Takahashi J.  Dominant mutation induced by chemical mutagenesis affecting mouse ERG and fundus.  ARVO 2003 meeting.  2003. 

Yen H, Mykytyn K, Nishimura D, Mullins R, Searby C, Westfall T, Slusarski D, Sheffield V.  Evaluation of zebrafish as a model organism for the human Bardet-Biedl syndrome.  American Society for Human Genetics meeting.  2003. 

Vitaterna M, Siepka S, Shimomura K, Simpson E, Mohn A, Caron M, Kandel E, Kibbe W, Levine J, Lotery A, Mullins R, Pinto L, Redei E, Sheffield V, Stone E, Turek F, Takahashi J.  The NIH Neurogenomics Project: A genetics and genomics resource for neuroscientists.  Society for Neuroscience meeting.  2003. 

Anderson D, Mullins R, Hageman G, Johnson L.  A role for local inflammation in the formation of drusen in the aging eye..  American journal of ophthalmology.  2002 September. 134(3):411-31.
[PubMed]

Lotery A, Derksen T, Russell S, Mullins R, Sauter S, Affatigato L, Stone E, Davidson B.  Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors..  Human gene therapy.  2002 April. 13(6):689-96.
[PubMed]

Lotery A, Derksen T, Russell S, Mullins R, Yang G, Kopp K, Eastman C, Stone E, Davidson B.  Trophism of AAV2 and AAV5 vectors in the non-human primate retina.  Investigative Ophthalmology and Visual Science.  2002. 

Alagramam K, Yuan H, Kuehn M, Murcia C, Wayne S, Srisailpathy C, Lowry R, Knaus R, Van Laer L, Bernier F, Schwartz S, Lee C, Morton C, Mullins R, Ramesh A, Van Camp G, Hageman G, Woychik R, Smith R, Hagemen G.  Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F..  Human molecular genetics.  2001 August. 10(16):1709-18.
[PubMed]

Anderson D, Ozaki S, Nealon M, Neitz J, Mullins R, Hageman G, Johnson L.  Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation..  American journal of ophthalmology.  2001 June. 131(6):767-81.
[PubMed]

Mullins R, Aptsiauri N, Hageman G.  Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis..  Eye (London, England).  2001 June. 15(Pt 3):390-5.
[PubMed]

Clark A, Kawase K, English-Wright S, Lane D, Steely H, Yamamoto T, Kitazawa Y, Kwon Y, Fingert J, Swiderski R, Mullins R, Hageman G, Alward W, Sheffield V, Stone E.  Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head..  FASEB journal : official publication of the Federation of American Societies for Experimental Biology.  2001 May. 15(7):1251-3.
[PubMed]

Jacobson N, Andrews M, Shepard A, Nishimura D, Searby C, Fingert J, Hageman G, Mullins R, Davidson B, Kwon Y, Alward W, Stone E, Clark A, Sheffield V.  Altered expression of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in human aqueous humor.  Hum Mol Genetics.  2001. 10:117-25.

Hageman G, Luthert P, Chong N, Johnson L, Anderson D, Mullins R.  An Integrated Hypothesis that Considers Drusen as Biomarkers of Immune-Mediated Processes at the RPE=Bruch's Membrane Interface in Aging and Age-Related Macular Degeneration.  Progress in Retinal and Eye Research.  2001. 20(6):705-732.

Lotery A, Dersken T, Mullins R, Kopp K, Rosenow J, Stone E, Davidson B, Sauter S, Russell S.  Evaluation of lentiviral vectors as possible agents for gene therapy to the neurosensory retina in a non-human primate model.  Investigative Ophthalmology and Visual Science.  2001. 42(Suppl):345.

Jacobson N, Andrews M, Shepard A, Nishimura D, Searby C, Fingert J, Hageman G, Mullins R, Davidson B, Kwon Y, Alward W, Stone E, Clark A, Sheffield V.  Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor..  Human molecular genetics.  2001 January. 10(2):117-25.
[PubMed]

Mullins R, Speth C, Hageman G.  Composition and origin of extracellular deposits in Bruch's membrane of human donors with age-related macular degeneration.  Biology and Pathology of the Extracellular Matrix.  2000 October 13. 

Mullins R, Russell S, Anderson D, Hageman G.  Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease..  FASEB journal : official publication of the Federation of American Societies for Experimental Biology.  2000 May. 14(7):835-46.
[PubMed]

Russell S, Mullins R, Schneider B, Hageman G.  Basal laminar drusen are indistinguishable in location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration..  American journal of ophthalmology.  2000 February. 129(2):205-14.
[PubMed]

Russell S, Gupta R, Folk J, Mullins R, Hageman G.  Comparison of color drusen images to fluorescein angiographic hyperfluorescence lesions in early adult onset (basal laminar) drusen.  Investigative Ophthalmology and Visual Science.  2000. 41(Suppl):875.

Mullins R, Aptsiauri N, Hageman G.  Dendritic cells and proteins involved in immune-mediated processes are associated with drusen and may play a central role in drusen biogenesis.  Investigative Ophthalmology and Visual Science.  2000. 41(Suppl):122.

Frennesson C, Weingeist D, Nienhaus H, Mullins R, Hageman G.  Vitronectin distribution in the choroidal stroma and Bruch’s membrane as related to age and age-related macular degeneration.  Investigative Ophthalmology and Visual Science.  2000. 41(Suppl):120.

Mullins R, Hageman G.  Human ocular drusen possess novel core domains with a distinct carbohydrate composition..  The journal of histochemistry and cytochemistry.  1999 December. 47(12):1533-40.
[PubMed]

Anderson D, Hageman G, Mullins R, Neitz M, Neitz J, Ozaki S, Preissner K, Johnson L.  Vitronectin gene expression in the adult human retina..  Investigative ophthalmology & visual science.  1999 December. 40(13):3305-15.
[PubMed]

Hageman G, Mullins R.  Molecular composition of drusen as related to substructural phenotype..  Molecular vision.  1999 November. 5:28.
[PubMed]

Hageman G, Mullins R.  The composition and biogenesis of ocular drusen.  IX International Symposium on ICG Angiography.  1999 September 11. 

Ozaki S, Johnson L, Mullins R, Hageman G, Anderson D.  The human retina and retinal pigment epithelium are abundant sources of vitronectin mRNA..  Biochemical and biophysical research communications.  1999 May. 258(3):524-9.
[PubMed]

Hageman G, Mullins R, Russell S, Johnson L, Anderson D.  Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells..  FASEB journal : official publication of the Federation of American Societies for Experimental Biology.  1999 March. 13(3):477-84.
[PubMed]

Anderson D, Johnson L, Schneider B, Nealon M, Mullins R, Hageman G.  Age-related maculopathy: a model of drusen biogenesis.  Investigative Ophthalmology and Visual Science.  1999. 40(Suppl):4863.

Hageman G, Anderson D, Mullins R.  An integrated hypothesis for the role of RPE cell death and immune-mediated processes in the etiology of age-related macular degeneration.  Western Eye Regional Conference Taos.  1999. 

Hageman G, Mullins R, Davisson M, Hawes N, Chang B, Nishina P, Heckenlively J.  Evaluation of the rd6/rd6 mouse as a model for drusen biogenesis.  The Jackson Laboratory Retinal Degenerations Symposium and Workshop.  1999. 

Ozaki S, Johnson L, Hageman G, Mullins R, Anderson D.  Relative quantitation of gene expression by the retina and RPE of two drusen-associated molecules.  Investigative Ophthalmology and Visual Science.  1999. 40(Suppl):4850.

Hageman G, Mullins R, Kuehn M, Stone E.  Characterization of extracellular deposits associated with AMD.  VIII International Symposium on Retinal Degeneration.  1998 July 25. 

 .  Characterization of human ocular drusen: Structural, compositional and developmental analyses.  1998. 

Mullins R, Speth C, Schneider B, Hageman G.  Compositional and ultrastructural analyses suggest a role for a cell-mediated process in drusen biogenesis.  Experimental Eye Research.  1998. Suppl:S101.

Hageman G, Mullins R.  The composition and origin of ocular drusen and basal laminar deposit.  Pathogenesis and Treatment of Age-Related Macular Degeneration.  1998. 

Hageman G, Mullins R.  Observations on the ultrastructure and development of macular extracellular matrix abnormalities.  International E.U. Meeting on the Genetics of Macular Degeneration.  1997 June 15. 

Mullins R, Johnson L, Anderson D, Hageman G.  Characterization of drusen-associated glycoconjugates..  Ophthalmology.  1997 February. 104(2):288-94.
[PubMed]

Mullins R, Schneider B, Russell S, Hageman G.  Drusen possess unique glycoconjugate cores.  Investigative Ophthalmology and Visual Science.  1997. 38(Suppl):S354.

Mullins R, Hageman G.  Histochemical Comparison of Ocular "Drusen" in Monkey and Human.  Plenum Press.  1997. 

Hageman G, Mullins R, Johnson L, Anderson D, Schneider B.  Analyses of the molecular constituents of age-related macular extracellular deposits.  Macular Workshop.  1996. 

Hageman G, Mullins R, Johnson L, Anderson D.  Cell biology of AMD: analyses of age-related extracellular deposits.  Investigative Ophthalmology and Visual Science.  1996. 37(Suppl):S450.

Nakhoul N, Romero M, Waheed A, Davis B, Mullins R, Hageman G, Sly W, Boron W.  Processing and functional expression of carbonic anhydrase isoforms in Xenopus laevis oocytes.  FASEB J. Exp. Biol.  1996. 96:A88.

Hageman G, Mullins R, Clark W, Johnson L, Anderson D.  Drusen share molecular constituents common to atherosclerotic, elastotic and amyloid deposits.  Investigative Ophthalmology and Visual Sciences .  1995. 36(Suppl):S432.

Mullins R, Johnson L, Anderson D, Hageman G.  Molecular composition of drusen: histochemical and enzymatic characterization of glycoconjugates.  Investigative Ophthalmology and Visual Science.  1995. 36(Suppl):S432.

Mullins R, Still J, Savage J, Davis J, Law E.  Osteomyelitis of the spine in a burn patient due to Candida albicans..  Burns.  1993 April. 19(2):174-6.
[PubMed]

Kuehn M, Mullins R, Hageman G.  Retinal interphotoreceptor matrix proteoglycan core protein sequences are unique and highly conserved.  Investigative Ophthalmology and Visual Sciences.  1993. 34(Suppl):1201.

Skeie J, Hernandez J, Hinek A, Mullins R.  Molecular Responses of Choroidal Endothelial Cells to Elastin Derived Peptides Through the Elastin Binding Protein (GLB1).  Matrix Biology.  in press.

Date Last Modified: 07/01/2014 - 15:16:41