Works by Swaroop, Anand
Results: 146
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.
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- Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822
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- Article
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
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- Human Mutation, 2010, v. 31, n. 6, p. E1472, doi. 10.1002/humu.21268
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- Article
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
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- Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565
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- Article
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
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- Human Mutation, 2007, v. 28, n. 6, p. 589, doi. 10.1002/humu.20488
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- Article
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
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- Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285
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- Article
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
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- Human Mutation, 2001, v. 17, n. 2, p. 151, doi. 10.1002/1098-1004(200102)17:2<151::AID-HUMU7>3.0.CO;2-W
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- Article
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and PRGR-ORF 15 genes.
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- Ophthalmic Genetics, 2003, v. 24, n. 4, p. 215
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- Article
Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.
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- Ophthalmic Genetics, 2001, v. 22, n. 4, p. 233, doi. 10.1076/opge.22.4.233.2219
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- Article
Clinical expression of X-linked retinitis pigmentosa in a Swedishfamily with the RP2 genotype.
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- Ophthalmic Genetics, 1998, v. 19, n. 4, p. 187, doi. 10.1076/opge.19.4.187.2305
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- Article
Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.
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- Human Molecular Genetics, 2025, v. 34, n. 1, p. 64, doi. 10.1093/hmg/ddae161
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- Article
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.
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- Human Molecular Genetics, 2024, v. 33, n. 4, p. 374, doi. 10.1093/hmg/ddad189
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- Article
Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina.
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- Human Molecular Genetics, 2023, v. 32, n. 6, p. 948, doi. 10.1093/hmg/ddac256
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- Article
Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.
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- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2137, doi. 10.1093/hmg/ddac013
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- Article
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
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- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2022, doi. 10.1093/hmg/ddaa057
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- Article
High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33427-1
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- Article
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.
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- Genes, 2017, v. 8, n. 7, p. 178, doi. 10.3390/genes8070178
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- Article
Synergistically acting agonists and antagonists of G protein-coupled receptors prevent photoreceptor cell degeneration.
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- Science Signaling, 2016, v. 9, n. 438, p. 1, doi. 10.1126/scisignal.aag0245
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- Article
An optimized protocol for retina single-cell RNA sequencing.
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- Molecular Vision, 2020, v. 26, p. 705
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- Article
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
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- Molecular Vision, 2020, v. 26, p. 299
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- Article
A simple and efficient method for generating human retinal organoids.
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- Molecular Vision, 2020, v. 26, p. 97
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Expression of deubiquitinating enzyme genes in the developing mammal retina.
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- Molecular Vision, 2019, v. 25, p. 800
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- Article
Transcriptome-based molecular staging of human stem cellderived retinal organoids uncovers accelerated photoreceptor differentiation by 9-cis retinal.
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- Molecular Vision, 2019, v. 25, p. 663
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- Article
Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.
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- Molecular Vision, 2019, v. 25, p. 79
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- Article
Three-dimensional retinal organoids from mouse pluripotent stem cells mimic in vivo development with enhanced stratification and rod photoreceptor differentiation.
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- Molecular Vision, 2016, v. 22, p. 1
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The cellular and compartmental profile of mouse retinal glycolysis, tricarboxylic acid cycle, oxidative phosphorylation, and ~P transferring kinases.
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- Molecular Vision, 2016, v. 22, p. 1
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- Article
Glycogen Synthase Kinase 3 Regulates the Genesis of Displaced Retinal Ganglion Cells3.
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- eNeuro, 2021, v. 8, n. 5, p. 1, doi. 10.1523/ENEURO.0171-21.2021
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- Article
Molecular dissection of cone photoreceptor‐enriched genes encoding transmembrane and secretory proteins.
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- Journal of Neuroscience Research, 2019, v. 97, n. 1, p. 16, doi. 10.1002/jnr.24329
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- Article
A multicenter clinical study to determine the efficacy of a novel fenugreek seed (Trigonella foenum-graecum) extract (Fenfuro™) in patients with type 2 diabetes.
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- Food & Nutrition Research, 2016, v. 60, p. 1, doi. 10.3402/fnr.v60.32382
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- Article
The Transcription Factor GTF2IRD1 Regulates the Topology and Function of Photoreceptors by Modulating Photoreceptor Gene Expression across the Retina.
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- Journal of Neuroscience, 2014, v. 34, n. 46, p. 15356, doi. 10.1523/JNEUROSCI.2089-14.2014
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- Article
Development and Plasticity of Outer Retinal Circuitry Following Genetic Removal of Horizontal Cells.
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- Journal of Neuroscience, 2013, v. 33, n. 45, p. 17847, doi. 10.1523/JNEUROSCI.1373-13.2013
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- Article
Adherence to a Mediterranean diet and cognitive function in the Age‐Related Eye Disease Studies 1 & 2.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 6, p. 831, doi. 10.1002/alz.12077
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- Article
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
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- Journal of Genetics, 2009, v. 88, n. 4, p. 399, doi. 10.1007/s12041-009-0061-7
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- Article
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina.
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- Nature Reviews Neuroscience, 2010, v. 11, n. 8, p. 563, doi. 10.1038/nrn2880
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- Article
Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.
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- Human Molecular Genetics, 2007, v. 16, n. R2, p. R174, doi. 10.1093/hmg/ddm212
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- Article
In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.
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- Human Molecular Genetics, 2006, v. 15, n. 17, p. 2588, doi. 10.1093/hmg/ddl185
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- Article
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
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- Human Molecular Genetics, 2006, v. 15, n. 11, p. 1847, doi. 10.1093/hmg/ddl107
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- Article
Meta-analysis of genome scans of age-related macular degeneration.
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- Human Molecular Genetics, 2005, v. 14, n. 15, p. 2257, doi. 10.1093/hmg/ddi230
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- Article
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
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- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1449, doi. 10.1093/hmg/ddi154
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- Article
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1893, doi. 10.1093/hmg/ddh198
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- Article
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors.
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- Human Molecular Genetics, 2004, v. 13, n. 15, p. 1563, doi. 10.1093/hmg/ddh173
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- Article
Expression profiling of the developing and mature Nrl−/− mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.
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- Human Molecular Genetics, 2004, v. 13, n. 14, p. 1487, doi. 10.1093/hmg/ddh160
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- Article
QRX, a novel homeobox gene, modulates photoreceptor gene expression.
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- Human Molecular Genetics, 2004, v. 13, n. 10, p. 1025, doi. 10.1093/hmg/ddh117
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- Article
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
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- Human Molecular Genetics, 2003, v. 12, n. 20, p. 2657, doi. 10.1093/hmg/ddg289
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- Article
Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.
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- Human Molecular Genetics, 2003, v. 12, n. 4, p. 365, doi. 10.1093/hmg/ddg035
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- Article
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 299, doi. 10.1093/hmg/8.2.299
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- Article
Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1281
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- Article
Nicotinamide Promotes Formation of Retinal Organoids From Human Pluripotent Stem Cells via Enhanced Neural Cell Fate Commitment.
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- Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.878351
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- Article
Recruitment of the Rod Pathway by Cones in the Absence of Rods.
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- Journal of Neuroscience, 2004, v. 24, n. 34, p. 7576, doi. 10.1523/JNEUROSCI.2245-04.2004
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- Article
GRK1-Dependent Phosphorylation of S and M Opsins and Their Binding to Cone Arrestin during Cone Phototransduction in the Mouse Retina.
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- Journal of Neuroscience, 2003, v. 23, n. 14, p. 6152, doi. 10.1523/JNEUROSCI.23-14-06152.2003
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- Article
Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression.
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- Molecular Biology & Evolution, 2020, v. 37, n. 7, p. 2002, doi. 10.1093/molbev/msaa062
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- Article