Anand Swaroop

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina
    Jindan Yu
    Ophthalmology and Visual Science, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Genome Biol 4:R65. 2003
  2. ncbi request reprint Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits
    Anand Swaroop
    Department of Ophthalmology, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 16:R174-82. 2007
  3. pmc Transcriptome analysis of the retina
    Anand Swaroop
    Departments of Ophthalmology and Visual Science and Human Genetics, University of Michigan, Ann Arbor, MI 48105, USA
    Genome Biol 3:REVIEWS1022. 2002
  4. ncbi request reprint Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function
    A Swaroop
    Department of Ophthalmology, Program in Cellular and Molecular Biology, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105 0714, USA
    Hum Mol Genet 8:299-305. 1999
  5. ncbi request reprint The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein
    James S Friedman
    Department of Ophthalmology, WK Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 279:47233-41. 2004
  6. pmc A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
    Atsuhiro Kanda
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Proc Natl Acad Sci U S A 104:16227-32. 2007
  7. pmc In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development
    Hong Cheng
    Neuroscience Graduate Program, Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 15:2588-602. 2006
  8. pmc Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
    Artur V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 20:1411-23. 2011
  9. pmc RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
    Thiran Jayasundera
    Department of Ophthalmologyand Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Arch Ophthalmol 128:915-23. 2010
  10. pmc Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors
    Edwin C T Oh
    Program in Neuroscience, University of Michigan, Ann Arbor MI, USA
    Brain Res 1236:16-29. 2008

Research Grants

  1. MOLECULAR MECHANISMS OF RETINA-SPECIFIC GENE EXPRESSION
    Anand Swaroop; Fiscal Year: 2004
  2. Genetic Variations in Age-related Macular Degeneration
    Anand Swaroop; Fiscal Year: 2006
  3. X-LINKED RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 2005
  4. MOLECULAR MECHANISMS OF RETINA-SPECIFIC GENE EXPRESSION
    Anand Swaroop; Fiscal Year: 2007
  5. X-LINKED RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 2001
  6. MOLECULAR MECHANISMS OF RETINA SPECIFIC GENE EXPRESSION
    Anand Swaroop; Fiscal Year: 1999
  7. X-LINKED RETINITIS PIGMENTOSA
    Hemant Khanna; Fiscal Year: 2007

Collaborators

Detail Information

Publications104 found, 100 shown here

  1. pmc Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina
    Jindan Yu
    Ophthalmology and Visual Science, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Genome Biol 4:R65. 2003
    ..We have generated and analyzed 10,000 expressed sequence tags (ESTs) from three mouse eye tissue cDNA libraries: embryonic day 15.5 (M15E) eye, postnatal day 2 (M2PN) eye and adult retina (MRA)...
  2. ncbi request reprint Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits
    Anand Swaroop
    Department of Ophthalmology, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 16:R174-82. 2007
    ....
  3. pmc Transcriptome analysis of the retina
    Anand Swaroop
    Departments of Ophthalmology and Visual Science and Human Genetics, University of Michigan, Ann Arbor, MI 48105, USA
    Genome Biol 3:REVIEWS1022. 2002
    ..These investigations are being greatly facilitated by the ongoing identification of genes expressed in the retina using high-throughput methods...
  4. ncbi request reprint Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function
    A Swaroop
    Department of Ophthalmology, Program in Cellular and Molecular Biology, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105 0714, USA
    Hum Mol Genet 8:299-305. 1999
    ....
  5. ncbi request reprint The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein
    James S Friedman
    Department of Ophthalmology, WK Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 279:47233-41. 2004
    ....
  6. pmc A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
    Atsuhiro Kanda
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Proc Natl Acad Sci U S A 104:16227-32. 2007
    ..We propose that rs10490924 represents a major susceptibility variant for AMD at 10q26. A likely biological mechanism is that the A69S change in the LOC387715/ARMS2 protein affects its presumptive function in mitochondria...
  7. pmc In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development
    Hong Cheng
    Neuroscience Graduate Program, Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 15:2588-602. 2006
    ..Our studies reveal a critical role of NR2E3 in establishing functional specificity of NRL-expressing photoreceptor precursors during retinal neurogenesis...
  8. pmc Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
    Artur V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 20:1411-23. 2011
    ..NPHP5- and NPHP6-LCA across a wide age spectrum are thus excellent candidates for cone-directed gene augmentation therapy, and the rd16;Nrl-/- mouse is an appropriate model for pre-clinical proof-of-concept studies...
  9. pmc RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
    Thiran Jayasundera
    Department of Ophthalmologyand Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Arch Ophthalmol 128:915-23. 2010
    ..To assess the phenotype of patients with X-linked retinitis pigmentosa (XLRP) with RP2 mutations and to correlate the findings with their genotype...
  10. pmc Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors
    Edwin C T Oh
    Program in Neuroscience, University of Michigan, Ann Arbor MI, USA
    Brain Res 1236:16-29. 2008
    ..Together with previous reports, our findings establish the hierarchy of transcriptional regulators in determining rod versus cone cell fate in photoreceptor precursors during the development of mammalian retina...
  11. pmc Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors
    Masayuki Akimoto
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Proc Natl Acad Sci U S A 103:3890-5. 2006
    ..Our results provide a framework for establishing gene regulatory networks that lead to mature functional photoreceptors from postmitotic precursors. Differentially expressed rod and cone genes are excellent candidates for retinopathies...
  12. ncbi request reprint Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays
    Jindan Yu
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48015, USA
    J Biol Chem 279:42211-20. 2004
    ..We hypothesize that Bmp/Smad and Wnt/Ca(2+) pathways participate in cell-cell communication in the mature retina, and expression changes observed in the Nrl(-/-) retina reflect their biased utilization in rod versus cone homeostasis...
  13. pmc Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations
    Tomas S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 48:4759-65. 2007
    ..To investigate in vivo the retinal microstructure in X-linked retinitis pigmentosa (XLRP) caused by RPGR mutations as a prelude to treatment initiatives for this common form of RP...
  14. pmc Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
    Wei Chen
    Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA
    Proc Natl Acad Sci U S A 107:7401-6. 2010
    ..Our studies extend the catalog of AMD associated loci, help identify individuals at high risk of disease, and provide clues about underlying cellular pathways that should eventually lead to new therapies...
  15. ncbi request reprint Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse
    Lauren L Daniele
    F M Kirby Center for Molecular Ophthalmology, Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA
    Invest Ophthalmol Vis Sci 46:2156-67. 2005
    ..To test the hypothesis that Nrl(-)(/)(-) photoreceptors are cones, by comparing them with WT rods and cones using morphological, molecular, histochemical, and electrophysiological criteria...
  16. doi request reprint Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments
    Kecia L Feathers
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
    Invest Ophthalmol Vis Sci 49:1126-35. 2008
    ....
  17. ncbi request reprint Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene
    Alessandro Iannaccone
    Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA
    Adv Exp Med Biol 613:221-7. 2008
  18. pmc Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
    Kari Branham
    Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan 48105, USA
    Invest Ophthalmol Vis Sci 53:8232-7. 2012
    ..To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2...
  19. ncbi request reprint Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity
    Atsuhiro Kanda
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    Hum Mutat 28:589-98. 2007
    ..We propose that differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity, leading to a more precise control of gene expression...
  20. ncbi request reprint Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 28:1074-83. 2007
    ....
  21. ncbi request reprint Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor
    Kenneth P Mitton
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 12:365-73. 2003
    ..Our results indicate potential cross-talk among signaling pathways in the retina and suggest that the function of NRL is modulated by its interaction with specific repressor proteins...
  22. pmc Rdh12 activity and effects on retinoid processing in the murine retina
    Jared D Chrispell
    Departments of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
    J Biol Chem 284:21468-77. 2009
    ..Our findings suggest that a critical function of RDH12 is the reduction of all-trans-retinal that exceeds the reductive capacity of the photoreceptor outer segments...
  23. pmc Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases
    Sunil K Parapuram
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS ONE 5:e13885. 2010
    ..The molecular mechanisms underlying rod photoreceptor vulnerability and potential biomarkers of the aging process in this highly specialized cell type are unknown...
  24. doi request reprint Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations
    Sarwar Zahid
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
    JAMA Ophthalmol 131:1016-25. 2013
    ..For patients with X-linked retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging because it complicates counseling regarding patients' likely visual prognosis...
  25. pmc RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins
    Hemant Khanna
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 280:33580-7. 2005
    ..Taken together, these results provide novel evidence for the possible involvement of RPGR-ORF15 in microtubule organization and regulation of transport in primary cilia...
  26. ncbi request reprint Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
    Hong Cheng
    Neuroscience Graduate Program, Department of Opthalmology and Visual Sciences, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 13:1563-75. 2004
    ..Our results demonstrate that NR2E3 is involved in regulating the expression of rod photoreceptor-specific genes and support its proposed role in transcriptional regulatory network(s) during rod differentiation...
  27. pmc Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies
    Shirley He
    Department of Ophthalmology and Visual Sciences, University of Michigan, W K Kellogg Eye Center, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Vision Res 48:366-76. 2008
    ..Our findings indicate that multiple isotypes of RPGR may perform overlapping yet somewhat distinct transport-related functions in photoreceptors...
  28. ncbi request reprint Evaluation and optimization of procedures for target labeling and hybridization of cDNA microarrays
    Jindan Yu
    Departments of Ophthalmology and Visual Sciences, Biomedical Engineering, University of Michigan, Ann Arbor, MI, USA
    Mol Vis 8:130-7. 2002
    ..Standardized protocols that consistently produce low background and high intensity hybridization with small amounts of starting RNA are needed to extract differentially expressed genes from a pool of thousands of unaltered genes...
  29. pmc Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL
    Edwin C T Oh
    Program in Neuroscience and Department of Ophthalmology, University of Michigan, Ann Arbor, MI 48105, USA
    Proc Natl Acad Sci U S A 104:1679-84. 2007
    ..Our studies establish that NRL is not only essential but is sufficient for rod differentiation and that postmitotic photoreceptor precursors are competent to make binary decisions during early retinogenesis...
  30. pmc Retinoic acid regulates the expression of photoreceptor transcription factor NRL
    Hemant Khanna
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA, and Translational Research Center, Kyoto University Hospital, Japan
    J Biol Chem 281:27327-34. 2006
    ..Our data suggest that signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination...
  31. pmc XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina
    Jingyu Yao
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
    Invest Ophthalmol Vis Sci 52:1567-72. 2011
    ..To assess the survival of rod precursor cells transplanted into the Rd9 mouse, a model of X-linked retinal degeneration, and the effect of antiapoptotic therapy with X-linked inhibitor of apoptosis (XIAP) on preventing cell loss...
  32. ncbi request reprint Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA
    Hum Mol Genet 13:1893-902. 2004
    ..The later-stage dysplastic appearance suggests a previously unrecognized proliferative response in human retinal degeneration...
  33. pmc Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
    Sepideh Zareparsi
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Am J Hum Genet 77:149-53. 2005
    ..39 (95% confidence interval 0.36-0.42) and the genotype relative risk to be 2.44 (95% confidence interval 2.08-2.83) for TC heterozygotes and 5.93 (95% confidence interval 4.33-8.02) for CC homozygotes...
  34. pmc Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors
    Hong Cheng
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Hum Mol Genet 20:4102-15. 2011
    ..These studies further support the 'transcriptional dominance' model of photoreceptor cell fate determination and provide insights into the pathogenesis of retinal disease phenotypes caused by NR2E3 mutations...
  35. doi request reprint Toll-like receptor polymorphisms and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology, Mayor Clinic, Rochester, MN 55905, USA
    Invest Ophthalmol Vis Sci 49:1652-9. 2008
    ..The purpose of this study was to determine whether common variation in the 10 human toll-like receptors (TLRs) alters the risk of AMD...
  36. ncbi request reprint Microarray analysis of gene expression in the aging human retina
    Shigeo Yoshida
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    Invest Ophthalmol Vis Sci 43:2554-60. 2002
    ..To develop gene expression profiles of young and elderly human retinas and identify candidate genes for aging-associated retinal diseases...
  37. pmc Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration
    Linjing Li
    Department of Ophthalmology, University of Massachusetts Medical School, Worcester, Massachusetts, USA
    Invest Ophthalmol Vis Sci 54:4503-11. 2013
    ..This study was undertaken to investigate the pathogenesis of RP2-associated retinal degeneration...
  38. ncbi request reprint Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center
    Sepideh Zareparsi
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA
    Invest Ophthalmol Vis Sci 45:1306-10. 2004
    ..To examine the effect of apolipoprotein E (APOE) alleles on age-related macular degeneration (AMD) risk and on age at diagnosis of AMD in a large patient cohort recruited from a single center...
  39. pmc A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
    Hemant Khanna
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
    Nat Genet 41:739-45. 2009
    ..Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect...
  40. ncbi request reprint Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration
    Sepideh Zareparsi
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 14:1449-55. 2005
    ..Our data provide evidence of a link between multiple diverse mechanisms underlying AMD pathogenesis...
  41. pmc RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction
    Carlos A Murga-Zamalloa
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    J Genet 88:399-407. 2009
    ....
  42. pmc CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
    Mingyao Li
    Department of Biostatistics, 1420 Washington Heights, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 38:1049-54. 2006
    ..Our results suggest that there are multiple disease susceptibility alleles in the region and that noncoding CFH variants play a role in disease susceptibility...
  43. ncbi request reprint Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl
    Shigeo Yoshida
    Department of Opthalmology and Visual Sciences, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 13:1487-503. 2004
    ..Our studies provide molecular insights into differences between rod and cone function, yield interesting candidates for retinal diseases and assist in identifying transcriptional regulatory targets of Nrl...
  44. ncbi request reprint Gene expression profile of native human retinal pigment epithelium
    Monika Buraczynska
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Invest Ophthalmol Vis Sci 43:603-7. 2002
    ..To generate a profile of genes expressed in the native human retinal pigment epithelium and identify candidate genes for retinal and macular diseases...
  45. pmc Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
    James S Friedman
    Department of Ophthalmology, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
    Am J Hum Genet 79:1059-70. 2006
    ..We suggest that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing...
  46. pmc Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms
    Sergei S Nikonov
    F M Kirby Center for Molecular Ophthalmology, Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Gen Physiol 125:287-304. 2005
    ..Thus, Grk1 is essential to normal inactivation of both S- and M-mouse cone opsins, but S-opsin has access to a relatively effective, Grk1-independent inactivation pathway...
  47. pmc RPGR-associated retinal degeneration in human X-linked RP and a murine model
    Wei Chieh Huang
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 53:5594-608. 2012
    ..We investigated the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patients and in an Rpgr conditional knockout (cko) mouse model...
  48. pmc The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development
    Toby Hurd
    Department of Pediatrics and Communicable Diseases, University of Michigan, 1150 West Medical Center Drive, Ann Arbor, MI 48109, USA
    Hum Mol Genet 19:4330-44. 2010
    ..This work suggests that RP2 may be an important regulator of ciliary function through its association with polycystin 2 and provides evidence of a further link between retinal and renal cilia function...
  49. ncbi request reprint High-resolution imaging with adaptive optics in patients with inherited retinal degeneration
    Jacque L Duncan
    Department of Ophthalmology, University of California, San Francisco School of Medicine, San Francisco, California 94143 0730, USA
    Invest Ophthalmol Vis Sci 48:3283-91. 2007
    ..To investigate macular photoreceptor structure in patients with inherited retinal degeneration using high-resolution images and to correlate the findings with clinical phenotypes and genetic mutations...
  50. pmc Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
    Carlos A Murga-Zamalloa
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 19:3591-8. 2010
    ..We propose that perturbation of RPGR-RAB8A interaction, at least in part, underlies the pathogenesis of photoreceptor degeneration in XLRP caused by RPGR mutations...
  51. doi request reprint E2-2 protein and Fuchs's corneal dystrophy
    Keith H Baratz
    Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA
    N Engl J Med 363:1016-24. 2010
    ..Although rare genetic variation that contributes to both early-onset and typical late-onset forms of FCD has been identified, to our knowledge, no common variants have been reported...
  52. pmc Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development
    Amiya K Ghosh
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 19:90-8. 2010
    ..We propose that RPGR is involved in cilia-dependent cascades during development in zebrafish. Our studies provide evidence for a heterogenic effect of the disease-causing mutations on the function of RPGR...
  53. pmc Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
    Dyke P McEwen
    Department of Pharmacology, University of Michigan, Ann Arbor, MI 48105, USA
    Proc Natl Acad Sci U S A 104:15917-22. 2007
    ..The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases...
  54. ncbi request reprint De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa
    Sharon B Schwartz
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 44:3593-7. 2003
    ..The Arg677ter mutation in the RP1 gene is one of the most common causes of autosomal dominant retinitis pigmentosa (RP). In the current study, a de novo Arg677ter RP1 gene mutation was identified in a patient with RP...
  55. doi request reprint Genome-wide association study and meta-analysis of intraocular pressure
    A Bilge Ozel
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Hum Genet 133:41-57. 2014
    ..These results confirm the involvement of common variants in multiple genomic regions in regulating IOP and/or glaucoma risk. ..
  56. ncbi request reprint Madeline 2.0 PDE: a new program for local and web-based pedigree drawing
    Edward H Trager
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    Bioinformatics 23:1854-6. 2007
    ..We provide an easy-to-use public web service, which is experimental and still under development. Availability: http://kellogg.umich.edu/madeline...
  57. pmc Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease
    Goncalo R Abecasis
    Department of Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA
    Am J Hum Genet 74:482-94. 2004
    ..Our results consolidate the chromosomal locations of several AMD susceptibility loci and, together with previous reports, should facilitate the search for disease-associated sequence variants...
  58. ncbi request reprint Network constrained clustering for gene microarray data
    Dongxiao Zhu
    Bioinformatics Program, University of Michigan, Ann Arbor, MI 48109, USA
    Bioinformatics 21:4014-20. 2005
    ..Our approach greatly outperforms the traditional approach in rediscovering the relatively well known galactose metabolism pathway in yeast and in clustering genes of the photoreceptor differentiation pathway...
  59. ncbi request reprint Seeing the unseen: Microarray-based gene expression profiling in vision
    Sepideh Zareparsi
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, 48105, USA
    Invest Ophthalmol Vis Sci 45:2457-62. 2004
  60. ncbi request reprint Activation of signaling pathways and stress-response genes in an experimental model of retinal detachment
    David N Zacks
    Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    Invest Ophthalmol Vis Sci 47:1691-5. 2006
    ..This study was undertaken to test the hypothesis that intrinsic protective mechanisms are activated in the neural retina during early stages of retinal detachment...
  61. ncbi request reprint Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
    Edgar A Otto
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 37:282-8. 2005
    ..Our studies emphasize the central role of ciliary dysfunction in the pathogenesis of SLSN...
  62. ncbi request reprint High throughput screening of co-expressed gene pairs with controlled false discovery rate (FDR) and minimum acceptable strength (MAS)
    Dongxiao Zhu
    Bioinformatics Program, University of Michigan, Ann Arbor, MI 48109, USA
    J Comput Biol 12:1029-45. 2005
    ..The method has been implemented in an R package "GeneNT" that is freely available from the Comprehensive R Archive Network (CRAN): www.cran.r-project.org/...
  63. ncbi request reprint The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
    John A Sayer
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 38:674-81. 2006
    ..Our findings help establish the link between centrosome function, tissue architecture and transcriptional control in the pathogenesis of cystic kidney disease, retinal degeneration, and central nervous system development...
  64. ncbi request reprint Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
    P K Swain
    Department of Ophthalmology, W K Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA
    Neuron 19:1329-36. 1997
    ..This data suggests that mutations in the CRX gene are associated with photoreceptor degeneration and that the Crx protein is necessary for the maintenance of normal cone and rod function...
  65. ncbi request reprint Mouse eye gene microarrays for investigating ocular development and disease
    Rafal Farjo
    Department of Ophthalmology, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Vision Res 42:463-70. 2002
    ..The I-gene microarrays will be useful for establishing expression profiles of the mouse eye/retina and provide a resource for defining molecular pathways involved in development, aging and disease...
  66. ncbi request reprint Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene
    Ceren Acar
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Mol Vis 9:14-7. 2003
    ..To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP)...
  67. pmc Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP)
    Carlos Murga-Zamalloa
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, Ann Arbor, MI 48105, USA
    Adv Exp Med Biol 664:105-14. 2010
    ..Piecing together the RPGR-interactome in different subcellular compartments should provide critical insights into the role of alternative RPGR isoforms in associated orphan and syndromic retinal degenerative diseases...
  68. ncbi request reprint Cloning and functional expression of human retinal kir2.4, a pH-sensitive inwardly rectifying K(+) channel
    B A Hughes
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA
    Am J Physiol Cell Physiol 279:C771-84. 2000
    ..We conclude that human Kir2.4 encodes an inwardly rectifying K(+) channel that is preferentially expressed in the neural retina and that is sensitive to physiological changes in extracellular pH...
  69. ncbi request reprint The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures
    R Kumar
    Department of Ophthalmology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 9277, USA
    J Biol Chem 271:29612-8. 1996
    ....
  70. ncbi request reprint Biomarkers of cardiovascular disease as risk factors for age-related macular degeneration
    Andrew K Vine
    Department of Ophthalmology, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan 48105, USA
    Ophthalmology 112:2076-80. 2005
    ..To measure and contrast 2 biomarkers of cardiovascular disease, C-reactive protein (CRP) and plasma homocysteine, in individuals with age-related macular degeneration (AMD) and control individuals without AMD...
  71. pmc Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls
    Shawn Ronan
    Department of Ophthalmology and Visual Science, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA
    Trans Am Ophthalmol Soc 104:232-40. 2006
    ..To test if patients with age-related macular degeneration (AMD) have normal panretinal function using standardized full-field electroretinograms (ERGs)...
  72. pmc A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
    Debra K Breuer
    Department of Human Genetics, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Am J Hum Genet 70:1545-54. 2002
    ..We also discuss the implications of our studies for genetic diagnosis, genotype-phenotype correlations, and gene-based therapy...
  73. ncbi request reprint The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation
    K P Mitton
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 275:29794-9. 2000
    ....
  74. ncbi request reprint Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration
    Q Farjo
    Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105, USA
    Genomics 45:395-401. 1997
    ....
  75. ncbi request reprint Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library
    L Gieser
    Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor 48105
    Genomics 13:873-6. 1992
    ..Eight of the cDNAs have been assigned to human chromosomes using PCR-based EST assays. Chromosomal mapping of subtracted RPE cDNA clones may also help in identifying candidate genes for inherited eye diseases...
  76. pmc Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15
    A J Mears
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
    Am J Hum Genet 67:1000-3. 2000
    ....
  77. ncbi request reprint Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
    D Yan
    Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 273:19656-63. 1998
    ..These studies suggest a role for the mRpgr protein in Golgi transport and form the basis for investigating the mechanism of photoreceptor degeneration in X-linked retinitis pigmentosa...
  78. ncbi request reprint Molecular characterization of the murine neural retina leucine zipper gene, Nrl
    Q Farjo
    Department of Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor 48105
    Genomics 18:216-22. 1993
    ....
  79. pmc A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27
    L Gieser
    Department of Opthalmology, Human Genetics, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
    Am J Hum Genet 63:1439-47. 1998
    ..Mapping of the RP24 locus expands our understanding of the genetic heterogeneity in XLRP and will assist in development of better tools for diagnosis...
  80. ncbi request reprint Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors
    P K Swain
    Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 276:36824-30. 2001
    ..We propose that NRL regulates rod photoreceptor-specific gene expression and is involved in rod differentiation...
  81. ncbi request reprint Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6
    A Swaroop
    Department of Ophthalmology, University of Michigan, Ann Arbor 48109 0618
    Hum Mol Genet 3:1281-6. 1994
    ..The mouse Sec13r gene was mapped to the conserved linkage group on chromosome 6 that corresponds to human chromosome 3p24-p25...
  82. pmc Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families
    R Fujita
    Department of Ophthalmology, University of Michigan, Ann Arbor 48105, USA
    Am J Hum Genet 61:571-80. 1997
    ..1...
  83. pmc Differential expression of novel Gs alpha signal transduction protein cDNA species
    A Swaroop
    Department of Ophthalmology, University of Michigan, Kellogg Eye Center, Ann Arbor 48105
    Nucleic Acids Res 19:4725-9. 1991
    ..Differential expression of alternatively spliced Gs alpha species suggests novel signal transducing pathways...
  84. ncbi request reprint Five novel RPGR mutations in families with X-linked retinitis pigmentosa
    M Guevara-Fujita
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA
    Hum Mutat 17:151. 2001
    ..One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001...
  85. pmc Mechanisms of aging in senescence-accelerated mice
    Todd A Carter
    The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
    Genome Biol 6:R48. 2005
    ....
  86. ncbi request reprint Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes
    Julie Lord-Grignon
    Maisonneuve Rosemont Hospital, Montreal, Quebec, Canada
    Invest Ophthalmol Vis Sci 45:3313-9. 2004
    ..In addition, some of the genes linked to retinal diseases are essential for normal retinal development. The goal of this study was to identify new transcripts enriched in photoreceptors involved in retinal development or diseases...
  87. ncbi request reprint A comprehensive analysis of the expression of crystallins in mouse retina
    Jinghua Xi
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Mol Vis 9:410-9. 2003
    ..This prompted us to undertake a comprehensive investigation to delineate the baseline expression of crystallin genes in the adult mouse retina...
  88. pmc In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 15:1847-57. 2006
    ..Our findings suggest a critical function for CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration...
  89. ncbi request reprint GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina
    Xuemei Zhu
    The Mary D Allen Laboratory for Vision Research, Doheny Eye Institute, Department of Cell and Neurobiology, The Keck School of Medicine of the University of Southern California, Los Angeles, California 90089 9112, USA
    J Neurosci 23:6152-60. 2003
    ..Our results demonstrate, for the first time in a mammalian species, that cone opsins are phosphorylated and that CAR binds to phosphorylated cone opsins after light activation...
  90. pmc Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute and Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 101:17819-24. 2004
    ..Our report presents an unusual clinical phenotype in humans with loss-of-function mutations in NRL...
  91. ncbi request reprint Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration
    Caroline Hayward
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 12:2657-67. 2003
    ..These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane...
  92. ncbi request reprint Meta-analysis of genome scans of age-related macular degeneration
    Sheila A Fisher
    Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, London SE1 9RT, UK
    Hum Mol Genet 14:2257-64. 2005
    ..Several of the regions identified here showed only weak evidence for linkage in the individual studies. These results will help prioritize regions for future positional and functional candidate gene studies in AMD...
  93. ncbi request reprint Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome
    Alan F Wright
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Hum Mutat 24:439. 2004
    ....
  94. ncbi request reprint QRX, a novel homeobox gene, modulates photoreceptor gene expression
    Qing Liang Wang
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Hum Mol Genet 13:1025-40. 2004
    ..In addition, the finding of rare heterozygous QRX sequence changes in three individuals with retinal degeneration raises the possibility that QRX may be involved in disease pathogenesis...
  95. ncbi request reprint Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15
    Gustavo D Aguirre
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
    Exp Eye Res 75:431-43. 2002
    ....
  96. ncbi request reprint Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function
    Xuejiao Wang
    Department of Ophthalmology and Visual Sciences, Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 277:43288-300. 2002
    ..In view of the ubiquitous expression of Baf, we hypothesize that it may play a role in regulating tissue- or cell type-specific gene expression by interacting with homeodomain transcription factors...
  97. ncbi request reprint Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina
    Keely M Bumsted O'Brien
    Max Planck Institute for Brain Research, Neuroanatomy Department, Frankfurt am Main, Germany
    Invest Ophthalmol Vis Sci 45:2807-12. 2004
    ....
  98. ncbi request reprint Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity
    Steven J Pittler
    Department of Physiological Optics, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, 924 18th Street S, Birmingham, AL 35294, USA
    J Biol Chem 279:19800-7. 2004
    ..These results establish that both Nrl and Crx are required for full transcriptional activity of the PDE6A gene...
  99. doi request reprint Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
    Saloni Walia
    Department of Ophthamology and Visual Sciences, University of Illinois, Chicago 60612 7234, USA
    Arch Ophthalmol 126:379-84. 2008
    ....
  100. doi request reprint Inflammation in the pathogenesis of age-related macular degeneration
    Atsuhiro Kanda
    Br J Ophthalmol 92:448-50. 2008
  101. pmc Mutations associated with retinopathies alter mitogen-activated protein kinase-induced phosphorylation of neural retina leucine-zipper
    Prabodha Swain
    Department of Cellular and Molecular Neuroscience, National Brain Research Center, Manesar, Haryana, India
    Mol Vis 13:1114-20. 2007
    ..The purpose of this study was to identify potential kinases responsible for the phosphorylation of NRL and determine if such kinase-dependent phosphorylation is altered in disease-associated NRL mutations...

Research Grants28

  1. MOLECULAR MECHANISMS OF RETINA-SPECIFIC GENE EXPRESSION
    Anand Swaroop; Fiscal Year: 2004
    ..abstract_text> ..
  2. Genetic Variations in Age-related Macular Degeneration
    Anand Swaroop; Fiscal Year: 2006
    ..In addition, our proposed studies may lead to identification of diagnostic markers for AMD and possibly development of new therapies. ..
  3. X-LINKED RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 2005
    ..These investigations promise to provide significant insights into the pathogenesis of XLRP and may lead to novel targets for gene-based therapy. ..
  4. MOLECULAR MECHANISMS OF RETINA-SPECIFIC GENE EXPRESSION
    Anand Swaroop; Fiscal Year: 2007
    ..A better understanding of transcriptional regulatory pathways may allow us to experimentally manipulate the expression of specific target gene(s) to correct a disease phenotype. ..
  5. X-LINKED RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 2001
    ..This will include identifying additional candidate genes from the RP3 genomic region as well as refining the RP2 and other X-linked RP loci genetically. ..
  6. MOLECULAR MECHANISMS OF RETINA SPECIFIC GENE EXPRESSION
    Anand Swaroop; Fiscal Year: 1999
    ....
  7. X-LINKED RETINITIS PIGMENTOSA
    Hemant Khanna; Fiscal Year: 2007
    ..Our investigations should also allow better design of therapies for XLRP and other human diseases involving ciliary dysfunction. ..