Anand Swaroop

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration
    Anand Swaroop
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Annu Rev Genomics Hum Genet 10:19-43. 2009
  2. pmc Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes
    Matthew J Brooks
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 17:3034-54. 2011
  3. pmc Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects
    Shobi Veleri
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e34389. 2012
  4. pmc Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis
    Hong Hao
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 8:e1002649. 2012
  5. pmc Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina
    Atsuhiro Kanda
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 16:1317-23. 2010
  6. 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
  7. 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
  8. pmc Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, United States of America
    PLoS ONE 7:e35865. 2012
  9. pmc A role for prenylated rab acceptor 1 in vertebrate photoreceptor development
    Virginia M Dickison
    Department of Biology, Saint Louis University, St Louis, Missouri, USA
    BMC Neurosci 13:152. 2012
  10. doi request reprint The golden era of ocular disease gene discovery: race to the finish
    A Swaroop
    National Eye Institute, National Institutes of Health, Bethesda, MD, USA
    Clin Genet 84:99-101. 2013

Collaborators

Detail Information

Publications75

  1. pmc Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration
    Anand Swaroop
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Annu Rev Genomics Hum Genet 10:19-43. 2009
    ..We also attempt to integrate available genetic and biochemical data with cellular pathways involved in aging to formulate an integrated model of AMD pathogenesis...
  2. pmc Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomes
    Matthew J Brooks
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 17:3034-54. 2011
    ....
  3. pmc Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects
    Shobi Veleri
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e34389. 2012
    ..Consistent with these findings, knockdown of Bbs9 in mouse IMCD3 cells results in the absence of cilia. Our studies suggest a key conserved role of BBS9 in biogenesis and/or function of cilia in zebrafish and mammals...
  4. pmc Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis
    Hong Hao
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 8:e1002649. 2012
    ..Our studies identify candidate genes for retinal dystrophies, define cis-regulatory module(s) for photoreceptor-expressed genes and provide a framework for decoding transcriptional regulatory networks that dictate rod homeostasis...
  5. pmc Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina
    Atsuhiro Kanda
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 16:1317-23. 2010
    ..The goal of this study is to examine whether these AMD-associated variants alter expression levels of ARMS2 and HTRA1 in human retina samples...
  6. 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...
  7. 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...
  8. pmc Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, United States of America
    PLoS ONE 7:e35865. 2012
    ....
  9. pmc A role for prenylated rab acceptor 1 in vertebrate photoreceptor development
    Virginia M Dickison
    Department of Biology, Saint Louis University, St Louis, Missouri, USA
    BMC Neurosci 13:152. 2012
    ..This period coincides with photoreceptor terminal differentiation in a normal retina. We have used the rd1 retina as a model to investigate early molecular defects in developing rod photoreceptors prior to the onset of degeneration...
  10. doi request reprint The golden era of ocular disease gene discovery: race to the finish
    A Swaroop
    National Eye Institute, National Institutes of Health, Bethesda, MD, USA
    Clin Genet 84:99-101. 2013
    ..We believe that the time has come to redefine the goals and begin utilizing the genetic knowledge for clinical management and treatment design. The unbelievable opportunities now exist for those nimble enough to seize them. ..
  11. pmc Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
    Rivka A Rachel
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA
    Cilia 1:22. 2012
    ..We therefore discuss a possible framework for investigating genetic networks associated with photoreceptor cilia biogenesis and pathology...
  12. doi request reprint Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
    Anand Swaroop
    Neurobiology Neurodegeneration and Repair Laboratory, Building 6 338, MSC 0610, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, Maryland 20892, USA
    Nat Rev Neurosci 11:563-76. 2010
    ..Elucidation of gene-regulatory networks that dictate photoreceptor genesis and homeostasis will have wider implications for understanding the development of nervous system function and for the treatment of neurodegenerative diseases...
  13. 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
    ....
  14. pmc Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice
    James S Friedman
    Neurobiology Neurodegeneration and Repair Laboratory, Biological Imaging Core, and Mechanisms of Retinal Diseases Section, Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 107:15523-8. 2010
    ..Our studies add another dimension to an essential role for LPCAT1 in retinal photoreceptor homeostasis...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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
    ....
  23. 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...
  24. 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...
  25. pmc Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
    Rivka A Rachel
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 122:1233-45. 2012
    ..Amelioration of the sensory phenotypes caused by specific mutations in one protein by removal of an interacting domain/protein suggests a possible novel approach for treating human ciliopathies...
  26. 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...
  27. 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)...
  28. pmc Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugs
    Raj P Kandpal
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 18:1123-46. 2012
    ....
  29. pmc Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal development
    Lily Ng
    NIDDK, Clinical Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892 1772, USA
    J Neurosci 31:11118-25. 2011
    ....
  30. 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...
  31. pmc Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis
    Chunqiao Liu
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA
    Hum Mol Genet 22:2234-46. 2013
    ..Our studies implicate Pk1 function in axonal-dendritic development associated with the maturation of CNS neurons...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. pmc Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation
    Jerome E Roger
    Neurobiology Neurodegeneration and Repair Laboratory, NEI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 285:25637-44. 2010
    ..Our studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis...
  38. 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...
  39. 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...
  40. 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...
  41. pmc Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa
    James S Friedman
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Am J Hum Genet 84:792-800. 2009
    ..Our studies suggest an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease...
  42. 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. pmc Gene expression changes in aging retinal microglia: relationship to microglial support functions and regulation of activation
    Wenxin Ma
    Unit on Neuron Glia Interactions in Retinal Disease, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Neurobiol Aging 34:2310-21. 2013
    ....
  49. pmc Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development
    Li Jia
    National Institute of Diabetes and Digestive and Kidney Diseases, Clinical Endocrinology Branch, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:17534-9. 2009
    ..Rorb(-/-) mice lack Nrl expression and reexpression of Nrl in Rorb(-/-) mice converts cones to rod-like cells. Thus, Rorb directs rod development and does so at least in part by inducing the Nrl-mediated pathway of rod differentiation...
  50. 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...
  51. pmc MicroRNA profile of the developing mouse retina
    Laszlo Hackler
    Departments of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Invest Ophthalmol Vis Sci 51:1823-31. 2010
    ..Conclusions. Global expression profiling revealed dozens of miRNAs with significant expression changes in the developing retina. Precise patterns of expression of miRNAs suggest their specific roles in development...
  52. pmc Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina
    Jerome E Roger
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Neurosci 32:528-41. 2012
    ..We propose that Nrl(-/-) retina may serve as a model for elucidating mechanisms of cone homeostasis and degeneration that would be relevant to understanding diseases of the cone-dominant human macula...
  53. 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...
  54. 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...
  55. pmc Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL
    Lorenzo L Nichols
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 31:E1472-83. 2010
    ..Such patients would therefore not likely benefit from a simple, gene-replacement strategy for their disease...
  56. 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)...
  57. 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...
  58. 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...
  59. 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...
  60. pmc A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3
    Atsuhiro Kanda
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, NIH, Bethesda, MD 20892, USA
    Mol Vis 15:2174-84. 2009
    ..This study was undertaken to determine biochemical as well as functional consequences of reported sequence variants and disease-causing mutations in NR2E3...
  61. 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
    ....
  62. pmc Protective gene expression changes elicited by an inherited defect in photoreceptor structure
    Yagya V Sharma
    Eye Research Institute, Oakland University, Rochester, Michigan, United States of America
    PLoS ONE 7:e31371. 2012
    ..We hypothesize that activation of Egr1 and neurotrophic factors may represent a protective immune mechanism which contributes to the characteristically slow retinal degeneration of the rds mouse model...
  63. pmc Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retina
    Dustin Hambright
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Vis 18:920-36. 2012
    ..An additional goal is to examine the in vivo dynamics of maturation and retinal integration of subretinal and epiretinal (vitreous space) hESC-RPC grafts without immunosuppression...
  64. pmc An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons
    Hong Liu
    Laboratory of Endocrinology and Receptor Biology, National Institutes of Health, NIDDK, 10 Center Drive, Bethesda, Maryland 20892 1772, USA
    Nat Commun 4:1813. 2013
    ..Moreover, ectopic RORβ1 expression in neonatal retina promotes amacrine cell differentiation...
  65. pmc Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis
    Igor O Nasonkin
    1Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Development 140:1330-41. 2013
    ..We also establish a model to study the epigenetic mechanisms and signaling pathways that guide the modulation of photoreceptor outer segment morphogenesis by RPE during retinal development and disease...
  66. pmc Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management
    Rinki Ratna Priya
    National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 119:2526-36. 2012
    ..These findings have implicated immune response, high-density lipoprotein cholesterol metabolism, extracellular matrix, and angiogenesis signaling pathways in disease pathophysiology...
  67. pmc Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis
    Marie Audrey I Kautzmann
    Neurobiology Neurodegeneration and Repair Laboratory, NEI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 286:28247-55. 2011
    ..Our studies demonstrate Nrl as a direct transcriptional target of RORβ and suggest that combinatorial action of multiple regulatory factors modulates the expression of Nrl in developing and mature retina...
  68. pmc Minireview: the role of nuclear receptors in photoreceptor differentiation and disease
    Douglas Forrest
    Laboratory of Endocrinology and Receptor Biology, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Endocrinol 26:905-15. 2012
    ..The potential of nuclear receptors to respond to ligands introduces versatility into the control of photoreceptor development and function and may suggest new opportunities for treatments of photoreceptor disease...
  69. doi request reprint Determination of posttranslational modifications of photoreceptor differentiation factor NRL: focus on SUMOylation
    Jerome E Roger
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
    Methods Mol Biol 884:353-61. 2012
    ..We have employed these methods to examine SUMOylation of the basic-motif leucine zipper transcription factor NRL...
  70. doi request reprint Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retina
    Igor O Nasonkin
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Comp Neurol 519:1914-30. 2011
    ..Our studies indicate that DNA methyltransferases contribute to the establishment and maturation of cell fates during retinal development...
  71. doi request reprint Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNA
    Matthew J Brooks
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
    Methods Mol Biol 884:319-34. 2012
    ..Here, we describe a detailed protocol for the creation of a directional RNA-seq library from 100 ng of starting total RNA...
  72. doi request reprint Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery
    Rinki Ratna Priya
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
    Methods Mol Biol 884:335-51. 2012
    ..A comprehensive landscape of coding variants could also offer valuable mechanistic insights into phenotypic heterogeneity and genetic epistasis...
  73. doi request reprint Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors
    Kohei Homma
    Laboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe, Japan
    Stem Cells 31:1149-59. 2013
    ..We conclude that Nrl-promoter-driven GFP-tagged donor photoreceptors exhibit physiological characteristics of rods and that iPS cell-derived rods in vitro may provide a renewable source for cell-replacement therapy...
  74. pmc Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma
    Chunqiao Liu
    Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, Bethesda, MD 20892, USA
    Hum Mol Genet 21:1848-60. 2012
    ..Together, our studies suggest a dose-dependent regulation of signaling by Fz5 and Fz8 in optic fissure/disc formation and progenitor expansion...
  75. pmc The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter
    Hong Hao
    Neurobiology Neurodegeneration and Repair Laboratory, NEI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 286:34893-902. 2011
    ..We conclude that Mef2c expression from an alternative promoter in the retina is regulated by NRL. Our studies also implicate MEF2C as a transcriptional regulator of homeostasis in rod photoreceptor cells...