Research Topics
Genomes and Genes
| Anand SwaroopSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degenerationAnand 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...- Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteinsRivka 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... 
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retinaAnand 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...- Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysisHong 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... - Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugsRaj P Kandpal
Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Vis 18:1123-46. 2012.... - Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRivka 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... - Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retinaJerome 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... - Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl(-/-) retinal transcriptomesMatthew J Brooks
Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Vis 17:3034-54. 2011.... - Two transcription factors can direct three photoreceptor outcomes from rod precursor cells in mouse retinal developmentLily Ng
NIDDK, Clinical Endocrinology Branch, National Institutes of Health, Bethesda, Maryland 20892 1772, USA
J Neurosci 31:11118-25. 2011.... - Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease managementRinki 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... - Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysisMarie 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... - Long-term survival and differentiation of retinal neurons derived from human embryonic stem cell lines in un-immunosuppressed mouse retinaDustin 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... - Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiationJerome 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... - Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retinaAtsuhiro 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... - Determination of posttranslational modifications of photoreceptor differentiation factor NRL: focus on SUMOylationJerome 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... - Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retinaIgor 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... - Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRLLorenzo 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... - Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesisIgor O Nasonkin
Neurobiology Neurodegeneration and Repair Laboratory N NRL
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... - Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNAMatthew 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... - Exome sequencing: capture and sequencing of all human coding regions for disease gene discoveryRinki 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... - Minireview: the role of nuclear receptors in photoreceptor differentiation and diseaseDouglas 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... - Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defectsShobi 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... - An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneuronsHong 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... - Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal colobomaChunqiao 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... - MicroRNA profile of the developing mouse retinaLaszlo 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... - The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoterHong 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... - Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 miceJames 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... - A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3Atsuhiro 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... - Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor developmentLi 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...