Anand Swaroop Neurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute National Institutes of Health Biography Publications Institution JoVE Articles Anand Swaroop has not added a biography. If you are Anand Swaroop and would like to personalize this page please email our Author Liaison for assistance. Publications Aging of the Retina: Molecular and Metabolic Turbulences and Potential Interventions Annual Review of Vision Science. Jun, 2021 | Pubmed ID: 34061570 Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk Translational Vision Science & Technology. 02, 2021 | Pubmed ID: 34003914 Genetics and Therapy for Pediatric Eye Diseases EBioMedicine. May, 2021 | Pubmed ID: 33975254 Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration Advances in Experimental Medicine and Biology. 2021 | Pubmed ID: 33848003 Association of Age-related Macular Degeneration with Complement Activation Products, Smoking, and Single Nucleotide Polymorphisms in South Carolinians of European and African Descent Molecular Vision. 2019 | Pubmed ID: 30820144 Three-dimensional Retinal Organoids from Mouse Pluripotent Stem Cells Mimic Development with Enhanced Stratification and Rod Photoreceptor Differentiation Molecular Vision. 2016 | Pubmed ID: 27667917 Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss American Journal of Human Genetics. Sep, 2016 | Pubmed ID: 27588452 A Reference Panel of 64,976 Haplotypes for Genotype Imputation Nature Genetics. 10, 2016 | Pubmed ID: 27548312 Recruitment of Rod Photoreceptors from Short-Wavelength-Sensitive Cones During the Evolution of Nocturnal Vision in Mammals Developmental Cell. 06, 2016 | Pubmed ID: 27326930 A Secreted WNT-ligand-binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma Human Molecular Genetics. Apr, 2016 | Pubmed ID: 26908622 A Large Genome-wide Association Study of Age-related Macular Degeneration Highlights Contributions of Rare and Common Variants Nature Genetics. Feb, 2016 | Pubmed ID: 26691988 Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria Investigative Ophthalmology & Visual Science. Dec, 2015 | Pubmed ID: 26747773 Long-term Rescue of Cone Photoreceptor Degeneration in Retinitis Pigmentosa 2 (RP2)-knockout Mice by Gene Replacement Therapy Human Molecular Genetics. Nov, 2015 | Pubmed ID: 26358772 CEP290 Alleles in Mice Disrupt Tissue-specific Cilia Biogenesis and Recapitulate Features of Syndromic Ciliopathies Human Molecular Genetics. Jul, 2015 | Pubmed ID: 25859007 The Transcription Factor GTF2IRD1 Regulates the Topology and Function of Photoreceptors by Modulating Photoreceptor Gene Expression Across the Retina The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Nov, 2014 | Pubmed ID: 25392503 Feedback Induction of a Photoreceptor-specific Isoform of Retinoid-related Orphan Nuclear Receptor β by the Rod Transcription Factor NRL The Journal of Biological Chemistry. Nov, 2014 | Pubmed ID: 25296752 Null and Hypomorph Prickle1 Alleles in Mice Phenocopy Human Robinow Syndrome and Disrupt Signaling Downstream of Wnt5a Biology Open. 2014 | Pubmed ID: 25190059 Ciliopathy-associated Gene Cc2d2a Promotes Assembly of Subdistal Appendages on the Mother Centriole During Cilia Biogenesis Nature Communications. 2014 | Pubmed ID: 24947469 Rare and Common Variants in Extracellular Matrix Gene Fibrillin 2 (FBN2) Are Associated with Macular Degeneration Human Molecular Genetics. Nov, 2014 | Pubmed ID: 24899048 Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration Nature Genetics. Nov, 2013 | Pubmed ID: 24036949 An Isoform of Retinoid-related Orphan Receptor β Directs Differentiation of Retinal Amacrine and Horizontal Interneurons Nature Communications. 2013 | Pubmed ID: 23652001 Conditional Knockdown of DNA Methyltransferase 1 Reveals a Key Role of Retinal Pigment Epithelium Integrity in Photoreceptor Outer Segment Morphogenesis Development (Cambridge, England). Mar, 2013 | Pubmed ID: 23406904 RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model Investigative Ophthalmology & Visual Science. Sep, 2012 | Pubmed ID: 22807293 Transcriptional Regulation of Rod Photoreceptor Homeostasis Revealed by in Vivo NRL Targetome Analysis PLoS Genetics. 2012 | Pubmed ID: 22511886 Combining Cep290 and Mkks Ciliopathy Alleles in Mice Rescues Sensory Defects and Restores Ciliogenesis The Journal of Clinical Investigation. Apr, 2012 | Pubmed ID: 22446187 Gene Therapy Rescues Photoreceptor Blindness in Dogs and Paves the Way for Treating Human X-linked Retinitis Pigmentosa Proceedings of the National Academy of Sciences of the United States of America. Feb, 2012 | Pubmed ID: 22308428 Complement Factor H Genetic Variant and Age-related Macular Degeneration: Effect Size, Modifiers and Relationship to Disease Subtype International Journal of Epidemiology. Jan, 2012 | Pubmed ID: 22253316 A 32 Kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-related Macular Degeneration PloS One. 2011 | Pubmed ID: 22022419 Complement Factor D in Age-related Macular Degeneration Investigative Ophthalmology & Visual Science. 2011 | Pubmed ID: 22003108 Evidence of Association of APOE with Age-related Macular Degeneration: a Pooled Analysis of 15 Studies Human Mutation. Dec, 2011 | Pubmed ID: 21882290 Candidate Gene Association Study for Diabetic Retinopathy in Persons with Type 2 Diabetes: the Candidate Gene Association Resource (CARe) Investigative Ophthalmology & Visual Science. Sep, 2011 | Pubmed ID: 21873659 The Transcription Factor Neural Retina Leucine Zipper (NRL) Controls Photoreceptor-specific Expression of Myocyte Enhancer Factor Mef2c from an Alternative Promoter The Journal of Biological Chemistry. Oct, 2011 | Pubmed ID: 21849497 Two Transcription Factors Can Direct Three Photoreceptor Outcomes from Rod Precursor Cells in Mouse Retinal Development The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Aug, 2011 | Pubmed ID: 21813673 Combinatorial Regulation of Photoreceptor Differentiation Factor, Neural Retina Leucine Zipper Gene NRL, Revealed by in Vivo Promoter Analysis The Journal of Biological Chemistry. Aug, 2011 | Pubmed ID: 21673114 Distinct Nuclear Localization Patterns of DNA Methyltransferases in Developing and Mature Mammalian Retina The Journal of Comparative Neurology. Jul, 2011 | Pubmed ID: 21452232 The Retinitis Pigmentosa Protein RP2 Interacts with Polycystin 2 and Regulates Cilia-mediated Vertebrate Development Human Molecular Genetics. Nov, 2010 | Pubmed ID: 20729296 Sumoylation of BZIP Transcription Factor NRL Modulates Target Gene Expression During Photoreceptor Differentiation The Journal of Biological Chemistry. Aug, 2010 | Pubmed ID: 20551322 Genetic Variants Near TIMP3 and High-density Lipoprotein-associated Loci Influence Susceptibility to Age-related Macular Degeneration Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010 | Pubmed ID: 20385819 Retinoid-related Orphan Nuclear Receptor RORbeta is an Early-acting Factor in Rod Photoreceptor Development Proceedings of the National Academy of Sciences of the United States of America. Oct, 2009 | Pubmed ID: 19805139 Rdh12 Activity and Effects on Retinoid Processing in the Murine Retina The Journal of Biological Chemistry. Aug, 2009 | Pubmed ID: 19506076 A Common Allele in RPGRIP1L is a Modifier of Retinal Degeneration in Ciliopathies Nature Genetics. Jun, 2009 | Pubmed ID: 19430481 Rod Differentiation Factor NRL Activates the Expression of Nuclear Receptor NR2E3 to Suppress the Development of Cone Photoreceptors Brain Research. Oct, 2008 | Pubmed ID: 18294621 Senile Panretinal Cone Dysfunction in Age-related Macular Degeneration (AMD): a Report of 52 Amd Patients Compared to Age-matched Controls Transactions of the American Ophthalmological Society. 2006 | Pubmed ID: 17471344 Gene Therapy of Dominant CRX-Leber Congenital Amaurosis Using Patient Stem Cell-Derived Retinal Organoids Stem Cell Reports. | Pubmed ID: 33513359 Loss of Endocytosis-associated RabGEF1 Causes Aberrant Morphogenesis and Altered Autophagy in Photoreceptors Leading to Retinal Degeneration PLoS Genetics. | Pubmed ID: 33362196 Methylation of Two-component Response Regulator MtrA in Mycobacteria Negatively Modulates Its DNA Binding and Transcriptional Activation The Biochemical Journal. | Pubmed ID: 33175092 Integration of Genomics and Transcriptomics Predicts Diabetic Retinopathy Susceptibility Genes ELife. | Pubmed ID: 33164750 Divergent Effects of HSP70 Overexpression in Photoreceptors During Inherited Retinal Degeneration Investigative Ophthalmology & Visual Science. | Pubmed ID: 33107904 An Optimized Protocol for Retina Single-cell RNA Sequencing Molecular Vision. | Pubmed ID: 33088174 A Mega-analysis of Expression Quantitative Trait Loci in Retinal Tissue PLoS Genetics. | Pubmed ID: 32870927 Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2 Ophthalmology. | Pubmed ID: 32858063 HIPRO: A High-Efficiency, Hypoxia-Induced Protocol for Generation of Photoreceptors in Retinal Organoids from Mouse Pluripotent Stem Cells STAR Protocols. | Pubmed ID: 32754720 Primary Cilia Biogenesis and Associated Retinal Ciliopathies Seminars in Cell & Developmental Biology. | Pubmed ID: 32747192 Accelerated Development of Rod Photoreceptors in Retinal Organoids Derived from Human Pluripotent Stem Cells by Supplementation with 9- Retinal STAR Protocols. | Pubmed ID: 32728670 Soy Protein Nanofiber Scaffolds for Uniform Maturation of Human Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium Tissue Engineering. Part C, Methods. | Pubmed ID: 32635833 Retinal Pigment Epithelium Transcriptome Analysis in Chronic Smoking Reveals a Suppressed Innate Immune Response and Activation of Differentiation Pathways Free Radical Biology & Medicine. | Pubmed ID: 32634473 Pluripotent Stem Cell-derived Retinal Organoids for Disease Modeling and Development of Therapies Stem Cells (Dayton, Ohio). | Pubmed ID: 32506758 A Unique -associated Variant in a Georgian Jewish Family with Probable North Carolina Macular Dystrophy and the Possible Contribution of a Unique Variant Molecular Vision. | Pubmed ID: 32476814 Pharmacologic Fibroblast Reprogramming into Photoreceptors Restores Vision Nature. | Pubmed ID: 32376950 Adherence to the Mediterranean Diet and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2 Ophthalmology. | Pubmed ID: 32348832 Genome-wide Profiling Identifies DNA Methylation Signatures of Aging in Rod Photoreceptors Associated with Alterations in Energy Metabolism Cell Reports. | Pubmed ID: 32320661 Adherence to a Mediterranean Diet and Cognitive Function in the Age-Related Eye Disease Studies 1 & 2 Alzheimer's & Dementia : the Journal of the Alzheimer's Association. | Pubmed ID: 32285590 Deep-learning-based Prediction of Late Age-Related Macular Degeneration Progression Nature Machine Intelligence. | Pubmed ID: 32285025 Family-based Exome Sequencing Identifies Rare Coding Variants in Age-related Macular Degeneration Human Molecular Genetics. | Pubmed ID: 32246154 Retinal Organoids Derived from HiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture Despite Reduced Levels of Mutant AIPL1 Scientific Reports. | Pubmed ID: 32214115 Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression Molecular Biology and Evolution. | Pubmed ID: 32191319 A Simple and Efficient Method for Generating Human Retinal Organoids Molecular Vision. | Pubmed ID: 32174751 Reply Ophthalmology. | Pubmed ID: 32087877 Expression of Deubiquitinating Enzyme Genes in the Developing Mammal Retina Molecular Vision. | Pubmed ID: 31819342 Transcriptome-based Molecular Staging of Human Stem Cell-derived Retinal Organoids Uncovers Accelerated Photoreceptor Differentiation by 9-cis Retinal Molecular Vision. | Pubmed ID: 31814692 Retinal Disease in Ciliopathies: Recent Advances with a Focus on Stem Cell-based Therapies Translational Science of Rare Diseases. | Pubmed ID: 31763178 SSBP1 Faux Pas in Mitonuclear Tango Causes Optic Neuropathy The Journal of Clinical Investigation. | Pubmed ID: 31738184 Improved Retinal Organoid Differentiation by Modulating Signaling Pathways Revealed by Comparative Transcriptome Analyses with Development In Vivo Stem Cell Reports. | Pubmed ID: 31631019 No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low Versus High Zinc, or β-Carotene Versus Lutein and Zeaxanthin On Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report No. 18 Ophthalmology. | Pubmed ID: 31358387 Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration JAMA Ophthalmology. | Pubmed ID: 31120506 Author Correction: Retinal Transcriptome and EQTL Analyses Identify Genes Associated with Age-related Macular Degeneration Nature Genetics. | Pubmed ID: 31068672 Age-related Changes of the Retinal Microvasculature PloS One. | Pubmed ID: 31048908 The Combination of Whole-exome Sequencing and Clinical Analysis Allows Better Diagnosis of Rare Syndromic Retinal Dystrophies Acta Ophthalmologica. | Pubmed ID: 30925032 Retinal Transcriptome and EQTL Analyses Identify Genes Associated with Age-related Macular Degeneration Nature Genetics. | Pubmed ID: 30742112 Mitochondrial Respiration in Outer Retina Contributes to Light-Evoked Increase in Hydration In Vivo Investigative Ophthalmology & Visual Science. | Pubmed ID: 30551203 Mini and Customized Low-cost Bioreactors for Optimized High-throughput Generation of Tissue Organoids Stem Cell Investigation. | Pubmed ID: 30498744 Targeted Deletion of an NRL- and CRX-regulated Alternative Promoter Specifically Silences FERM and PDZ Domain Containing 1 (Frmpd1) in Rod Photoreceptors Human Molecular Genetics. | Pubmed ID: 30445545 A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration Cell Reports. | Pubmed ID: 30332642 Variegated Yet Non-random Rod and Cone Photoreceptor Disease Patterns in RPGR-ORF15-associated Retinal Degeneration Human Molecular Genetics. | Pubmed ID: 30285110 Molecular Dissection of Cone Photoreceptor-enriched Genes Encoding Transmembrane and Secretory Proteins Journal of Neuroscience Research. | Pubmed ID: 30260491 Cone-rod Homeobox CRX Controls Presynaptic Active Zone Formation in Photoreceptors of Mammalian Retina Human Molecular Genetics. | Pubmed ID: 30084954 Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16 Ophthalmology. | Pubmed ID: 30060980 Patient IPSC-derived Neural Stem Cells Exhibit Phenotypes in Concordance with the Clinical Severity of Mucopolysaccharidosis I Human Molecular Genetics. | Pubmed ID: 30052969 Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease Methods in Molecular Biology (Clifton, N.J.). | Pubmed ID: 29564788 Epigenetic Control of Gene Regulation During Development and Disease: A View from the Retina Progress in Retinal and Eye Research. | Pubmed ID: 29544768 RNA Biology in Retinal Development and Disease Trends in Genetics : TIG. | Pubmed ID: 29395379 Genome-wide Analysis of Disease Progression in Age-related Macular Degeneration Human Molecular Genetics. | Pubmed ID: 29346644 Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors Stem Cell Reports. | Pubmed ID: 29233554 Molecular Anatomy of the Developing Human Retina Developmental Cell. | Pubmed ID: 29233477 Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration Ophthalmology. | Pubmed ID: 29224928 A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14 Ophthalmology. | Pubmed ID: 29096998 Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL Investigative Ophthalmology & Visual Science. | Pubmed ID: 28863214 EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression Genes. | Pubmed ID: 28704921 In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations Cell Reports. | Pubmed ID: 28700940 Pias3 is Necessary for Dorso-ventral Patterning and Visual Response of Retinal Cones but is Not Required for Rod Photoreceptor Differentiation Biology Open. | Pubmed ID: 28495965 Whole-Exome Sequencing Identifies Biallelic IDH3A Variants As a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Ophthalmology. | Pubmed ID: 28412069 REEP6 Mediates Trafficking of a Subset of Clathrin-coated Vesicles and is Critical for Rod Photoreceptor Function and Survival Human Molecular Genetics. | Pubmed ID: 28369466 Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores Genetics. | Pubmed ID: 28341650 Nrl Knockdown by AAV-delivered CRISPR/Cas9 Prevents Retinal Degeneration in Mice Nature Communications. | Pubmed ID: 28291770 Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing Investigative Ophthalmology & Visual Science. | Pubmed ID: 27898983 NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors Cell Reports. | Pubmed ID: 27880916 Transcriptome Profiling of NIH3T3 Cell Lines Expressing Opsin and the P23H Opsin Mutant Identifies Candidate Drugs for the Treatment of Retinitis Pigmentosa Pharmacological Research. | Pubmed ID: 27838510 Variegated Yet Non-random Rod and Cone Photoreceptor Disease Patterns in RPGR-ORF15-associated Retinal Degeneration Human Molecular Genetics. | Pubmed ID: 27798110 Rapid, Dynamic Activation of Müller Glial Stem Cell Responses in Zebrafish Investigative Ophthalmology & Visual Science. | Pubmed ID: 27699411 Next-generation Genotype Imputation Service and Methods Nature Genetics. | Pubmed ID: 27571263 The Cellular and Compartmental Profile of Mouse Retinal Glycolysis, Tricarboxylic Acid Cycle, Oxidative Phosphorylation, and ~P Transferring Kinases Molecular Vision. | Pubmed ID: 27499608 Synergistically Acting Agonists and Antagonists of G Protein-coupled Receptors Prevent Photoreceptor Cell Degeneration Science Signaling. | Pubmed ID: 27460988 Next Generation Sequencing Technology and Genomewide Data Analysis: Perspectives for Retinal Research Progress in Retinal and Eye Research. | Pubmed ID: 27297499 Loss of RPGR Glutamylation Underlies the Pathogenic Mechanism of Retinal Dystrophy Caused by TTLL5 Mutations Proceedings of the National Academy of Sciences of the United States of America. | Pubmed ID: 27162334 Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines Investigative Ophthalmology & Visual Science. | Pubmed ID: 27116668 Centrosomal Protein CP110 Controls Maturation of the Mother Centriole During Cilia Biogenesis Development (Cambridge, England). | Pubmed ID: 26965371 Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual Investigative Ophthalmology & Visual Science. | Pubmed ID: 26962691 Genetic Components in Diabetic Retinopathy Indian Journal of Ophthalmology. | Pubmed ID: 26953025 Increased Retinal MtDNA Damage in the CFH Variant Associated with Age-related Macular Degeneration Experimental Eye Research. | Pubmed ID: 26854823 Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions Genetic Epidemiology. | Pubmed ID: 26782979 Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies Scientific Reports. | Pubmed ID: 26306921 Transcriptome Dynamics of Developing Photoreceptors in Three-Dimensional Retina Cultures Recapitulates Temporal Sequence of Human Cone and Rod Differentiation Revealing Cell Surface Markers and Gene Networks Stem Cells (Dayton, Ohio). | Pubmed ID: 26235913 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family Are Caused by Two Independent Yet Linked Mutations in ALMS1 and DYSF Human Mutation. | Pubmed ID: 26077327 Differential DNA Methylation Identified in the Blood and Retina of AMD Patients Epigenetics. | Pubmed ID: 26067391 Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-related Macular Degeneration PloS One. | Pubmed ID: 25962167 A Long-term Efficacy Study of Gene Replacement Therapy for RPGR-associated Retinal Degeneration Human Molecular Genetics. | Pubmed ID: 25877300 Vision from Next Generation Sequencing: Multi-dimensional Genome-wide Analysis for Producing Gene Regulatory Networks Underlying Retinal Development, Aging and Disease Progress in Retinal and Eye Research. | Pubmed ID: 25668385 Biology and Therapy of Inherited Retinal Degenerative Disease: Insights from Mouse Models Disease Models & Mechanisms. | Pubmed ID: 25650393 Whole Exome Sequencing Reveals GUCY2D As a Major Gene Associated with Cone and Cone-rod Dystrophy in Israel Investigative Ophthalmology & Visual Science. | Pubmed ID: 25515582 Deletion of Aryl Hydrocarbon Receptor AHR in Mice Leads to Subretinal Accumulation of Microglia and RPE Atrophy Investigative Ophthalmology & Visual Science. | Pubmed ID: 25159211 No Clinically Significant Association Between CFH and ARMS2 Genotypes and Response to Nutritional Supplements: AREDS Report Number 38 Ophthalmology. | Pubmed ID: 24974817 Age-related Macular Degeneration: Genetics and Biology Coming Together Annual Review of Genomics and Human Genetics. | Pubmed ID: 24773320 Regulation of a Novel Isoform of Receptor Expression Enhancing Protein REEP6 in Rod Photoreceptors by BZIP Transcription Factor NRL Human Molecular Genetics. | Pubmed ID: 24691551 Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy PloS One. | Pubmed ID: 24671090 Ancestry Estimation and Control of Population Stratification for Sequence-based Association Studies Nature Genetics. | Pubmed ID: 24633160 OTX2 Loss Causes Rod Differentiation Defect in CRX-associated Congenital Blindness The Journal of Clinical Investigation. | Pubmed ID: 24382353 Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes is Not a Hallmark of Age-related Macular Degeneration Cell Reports. | Pubmed ID: 24373284 The Transcription-splicing Protein NonO/p54nrb and Three NonO-interacting Proteins Bind to Distal Enhancer Region and Augment Rhodopsin Expression Human Molecular Genetics. | Pubmed ID: 24301678 Development and Plasticity of Outer Retinal Circuitry Following Genetic Removal of Horizontal Cells The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. | Pubmed ID: 24198374 Genetic Architecture of Retinal and Macular Degenerative Diseases: the Promise and Challenges of Next-generation Sequencing Genome Medicine. | Pubmed ID: 24112618 Genome-wide Association Study and Meta-analysis of Intraocular Pressure Human Genetics. | Pubmed ID: 24002674 Ablation of the X-linked Retinitis Pigmentosa 2 (Rp2) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration Investigative Ophthalmology & Visual Science. | Pubmed ID: 23745007 Phenotypic Conservation in Patients with X-linked Retinitis Pigmentosa Caused by RPGR Mutations JAMA Ophthalmology. | Pubmed ID: 23681342 Gene Expression Changes in Aging Retinal Microglia: Relationship to Microglial Support Functions and Regulation of Activation Neurobiology of Aging. | Pubmed ID: 23608111 Developing Rods Transplanted into the Degenerating Retina of Crx-knockout Mice Exhibit Neural Activity Similar to Native Photoreceptors Stem Cells (Dayton, Ohio). | Pubmed ID: 23495178 What's in a Name? RPGR Mutations Redefine the Genetic and Phenotypic Landscape in Retinal Degenerative Diseases Investigative Ophthalmology & Visual Science. | Pubmed ID: 23423174 Prickle1 is Expressed in Distinct Cell Populations of the Central Nervous System and Contributes to Neuronal Morphogenesis Human Molecular Genetics. | Pubmed ID: 23420014 Photoreceptor Sensory Cilia and Ciliopathies: Focus on CEP290, RPGR and Their Interacting Proteins Cilia. | Pubmed ID: 23351659 A Role for Prenylated Rab Acceptor 1 in Vertebrate Photoreceptor Development BMC Neuroscience. | Pubmed ID: 23241222 Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease Investigative Ophthalmology & Visual Science. | Pubmed ID: 23150612 Genetic Studies of Age-related Macular Degeneration: Lessons, Challenges, and Opportunities for Disease Management Ophthalmology. | Pubmed ID: 23009893 Determination of Posttranslational Modifications of Photoreceptor Differentiation Factor NRL: Focus on SUMOylation Methods in Molecular Biology (Clifton, N.J.). | Pubmed ID: 22688719 Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene Discovery Methods in Molecular Biology (Clifton, N.J.). | Pubmed ID: 22688718 Retinal Transcriptome Profiling by Directional Next-generation Sequencing Using 100 Ng of Total RNA Methods in Molecular Biology (Clifton, N.J.). | Pubmed ID: 22688717 Transcriptome Analysis Using Next Generation Sequencing Reveals Molecular Signatures of Diabetic Retinopathy and Efficacy of Candidate Drugs Molecular Vision. | Pubmed ID: 22605924 Rd9 is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15 PloS One. | Pubmed ID: 22563472 Minireview: the Role of Nuclear Receptors in Photoreceptor Differentiation and Disease Molecular Endocrinology (Baltimore, Md.). | Pubmed ID: 22556342 Long-term Survival and Differentiation of Retinal Neurons Derived from Human Embryonic Stem Cell Lines in Un-immunosuppressed Mouse Retina Molecular Vision. | Pubmed ID: 22539871 Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects PloS One. | Pubmed ID: 22479622 Protective Gene Expression Changes Elicited by an Inherited Defect in Photoreceptor Structure PloS One. | Pubmed ID: 22363631 Preservation of Cone Photoreceptors After a Rapid Yet Transient Degeneration and Remodeling in Cone-only Nrl-/- Mouse Retina The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. | Pubmed ID: 22238088 Regulation of Retinal Progenitor Expansion by Frizzled Receptors: Implications for Microphthalmia and Retinal Coloboma Human Molecular Genetics. | Pubmed ID: 22228100 Next-generation Sequencing Facilitates Quantitative Analysis of Wild-type and Nrl(-/-) Retinal Transcriptomes Molecular Vision. | Pubmed ID: 22162623 Global Expression Profiling of Peripheral Qa-1-restricted CD8αα+TCRαβ+ Regulatory T Cells Reveals Innate-like Features: Implications for Immune-regulatory Repertoire Human Immunology. | Pubmed ID: 21889557 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 Human Molecular Genetics. | Pubmed ID: 21813656 Ciliary Neurotrophic Factor Induces Genes Associated with Inflammation and Gliosis in the Retina: a Gene Profiling Study of Flow-sorted, Müller Cells PloS One. | Pubmed ID: 21637858 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 Human Molecular Genetics. | Pubmed ID: 21245082 TOPORS, Implicated in Retinal Degeneration, is a Cilia-centrosomal Protein Human Molecular Genetics. | Pubmed ID: 21159800 Genetic Association Study of Age-related Macular Degeneration in the Spanish Population Acta Ophthalmologica. | Pubmed ID: 21106043 Distinct Signature of Altered Homeostasis in Aging Rod Photoreceptors: Implications for Retinal Diseases PloS One. | Pubmed ID: 21079736 XIAP Therapy Increases Survival of Transplanted Rod Precursors in a Degenerating Host Retina Investigative Ophthalmology & Visual Science. | Pubmed ID: 20926819 Loss of Lysophosphatidylcholine Acyltransferase 1 Leads to Photoreceptor Degeneration in Rd11 Mice Proceedings of the National Academy of Sciences of the United States of America. | Pubmed ID: 20713727 Age-related Macular Degeneration-associated Variants at Chromosome 10q26 Do Not Significantly Alter ARMS2 and HTRA1 Transcript Levels in the Human Retina Molecular Vision. | Pubmed ID: 20664794 Transcriptional Regulation of Photoreceptor Development and Homeostasis in the Mammalian Retina Nature Reviews. Neuroscience. | Pubmed ID: 20648062 Interaction of Retinitis Pigmentosa GTPase Regulator (RPGR) with RAB8A GTPase: Implications for Cilia Dysfunction and Photoreceptor Degeneration Human Molecular Genetics. | Pubmed ID: 20631154 RP2 Phenotype and Pathogenetic Correlations in X-linked Retinitis Pigmentosa Archives of Ophthalmology (Chicago, Ill. : 1960). | Pubmed ID: 20625056 Associations of CFHR1-CFHR3 Deletion and a CFH SNP to Age-related Macular Degeneration Are Not Independent Nature Genetics. | Pubmed ID: 20581873 Two Novel CRX Mutant Proteins Causing Autosomal Dominant Leber Congenital Amaurosis Interact Differently with NRL Human Mutation. | Pubmed ID: 20513135 RPGR-containing Protein Complexes in Syndromic and Non-syndromic Retinal Degeneration Due to Ciliary Dysfunction Journal of Genetics. | Pubmed ID: 20090203 Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1 Investigative Ophthalmology & Visual Science. | Pubmed ID: 20042663 MicroRNA Profile of the Developing Mouse Retina Investigative Ophthalmology & Visual Science. | Pubmed ID: 19933188 A Comprehensive Analysis of Sequence Variants and Putative Disease-causing Mutations in Photoreceptor-specific Nuclear Receptor NR2E3 Molecular Vision. | Pubmed ID: 19898638 Human Retinopathy-associated Ciliary Protein Retinitis Pigmentosa GTPase Regulator Mediates Cilia-dependent Vertebrate Development Human Molecular Genetics. | Pubmed ID: 19815619 Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-dominant Retinitis Pigmentosa American Journal of Human Genetics. | Pubmed ID: 19520207 Unraveling a Multifactorial Late-onset Disease: from Genetic Susceptibility to Disease Mechanisms for Age-related Macular Degeneration Annual Review of Genomics and Human Genetics. | Pubmed ID: 19405847 Canine RD3 Mutation Establishes Rod-cone Dysplasia Type 2 (rcd2) As Ortholog of Human and Murine Rd3 Mammalian Genome : Official Journal of the International Mammalian Genome Society. | Pubmed ID: 19130129 CP110 Suppresses Primary Cilia Formation Through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease Developmental Cell. | Pubmed ID: 18694559 A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-linked Retinitis Pigmentosa American Journal of Human Genetics. | Pubmed ID: 11992260 Lens-specific Gene Recruitment of Zeta-crystallin Through Pax6, Nrl-Maf, and Brain Suppressor Sites Molecular and Cellular Biology. | Pubmed ID: 9528779 Determinação da respiração mitocondrial e glicolise em amostras de tecido retinal ex vivo Ke Jiang1, Jacob Nellissery1, Anand Swaroop1 1Neurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health JoVE 62914 Neurosciences
Determinação da respiração mitocondrial e glicolise em amostras de tecido retinal ex vivo Ke Jiang1, Jacob Nellissery1, Anand Swaroop1 1Neurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health JoVE 62914 Neurosciences