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 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications34

  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 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...
  3. 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. ..
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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
    ....
  9. 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...
  10. 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...
  11. 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...
  12. 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
    ....
  13. 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
    ....
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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
    ....
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...