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List of works by Anand Swaroop

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration

scientific article

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.

scientific article published on 30 October 2017

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration

scientific article published on 15 April 2015

A mega-analysis of expression quantitative trait loci in retinal tissue

scientific article published on 01 September 2020

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

scientific article (publication date: April 1999)

A novel exome probe set captures phototransduction genes across birds (Aves) enabling efficient analysis of vision evolution

scientific article published in 2021

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A role for prenylated rab acceptor 1 in vertebrate photoreceptor development

scientific article

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

scientific article published on 24 January 2016

A simple and efficient cDNA library subtraction procedure: isolation of human retina-specific cDNA clones

scientific article

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

scientific article

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration

scientific article

Activation of signaling pathways and stress-response genes in an experimental model of retinal detachment.

scientific article

Afferent control of horizontal cell morphology revealed by genetic respecification of rods and cones.

scientific article published in March 2007

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease

scientific article

Age-related macular degeneration: genetics and biology coming together

scientific article

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

scientific article

An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons

scientific journal article

Ancestry estimation and control of population stratification for sequence-based association studies

scientific article

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration

scientific article published on 7 December 2017

Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center

scientific article published in May 2004

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

scientific article published on July 2010

Author Correction: Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

scientific article published on 01 June 2019

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

scientific article

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function

scientific article

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

scientific article

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

scientific article

Biomarkers of cardiovascular disease as risk factors for age-related macular degeneration

scientific article

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

scientific article (publication date: July 2015)

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

scientific article

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

scientific article

Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).

scientific article

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

scientific article published on 09 January 2009

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

scientific article

Characterization and sequence analysis of the human homeobox-containing gene GBX2

scientific article

Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes

scientific article

Charon BS(+) and (-), versatile lambda phage vectors for constructing directional cDNA libraries and their efficient transfer to plasmids

scientific article

Chromosomal localization and cDNA sequence of human ralB, a GTP binding protein

scientific article

Ciliary neurotrophic factor induces genes associated with inflammation and gliosis in the retina: a gene profiling study of flow-sorted, Müller cells

scientific article

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis

scientific journal article

Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration

scientific article published on 11 May 2015

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

scientific article (publication date: December 2003)

Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis

scientific article

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

scientific article

Competing peroxidase and oxidase reactions in scopoletin-dependent H2O2-initiated oxidation of NADH by horseradish peroxidase

scientific article published on 01 January 1994

Complement factor D in age-related macular degeneration

scientific article published on 11 November 2011

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

scientific article published on 13 January 2012

Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis

scientific article published on 13 February 2013

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

scientific article

Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse

scientific article published in June 2005

Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina

scholarly article by Juthaporn Assawachananont published in October 2018

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

scientific article

Declarative Querying for Biological Sequences

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

scientific article

Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy

scientific article

Determination of posttranslational modifications of photoreceptor differentiation factor NRL: focus on SUMOylation

scientific article

Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors

scientific article

Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells

scientific article

Differential DNA methylation identified in the blood and retina of AMD patients

scientific article

Differential expression of novel Gs alpha signal transduction protein cDNA species

scientific journal article

Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13

scientific article published on 01 April 1995

Dinucleotide repeat polymorphism at the DXS977 locus.

scientific article published in June 1994

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene

scientific article

Distinct nuclear localization patterns of DNA methyltransferases in developing and mature mammalian retina

scientific article published on 01 July 2011

Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases

scientific article

E2-2 protein and Fuchs's corneal dystrophy

scientific journal article

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

scientific article published on 12 July 2017

Epigenetic control of gene regulation during development and disease: A view from the retina

scientific article published on 12 March 2018

Evaluation of the ELOVL4 gene in patients with age-related macular degeneration

article

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

scientific article published on 12 September 2011

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

scientific article

Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene Discovery

article

Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library

scientific article

Expression and chromosomal localization of cDNA clones from an enriched human retinal pigment epithelial (RPE) cell line library: identification of two RPE-specific genes.

scientific article published on January 1995

Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina

scientific article

Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl

scientific journal article

FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro

scientific article published in April 2008

Feedback induction of a photoreceptor-specific isoform of retinoid-related orphan nuclear receptor β by the rod transcription factor NRL.

scientific article

Free radical scavenging, antioxidant and cancer chemoprevention by grape seed proanthocyanidin: an overview

scientific article

Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity

scientific article

GATD3A, a mitochondrial deglycase with evolutionary origins from gammaproteobacteria, restricts the formation of advanced glycation end products

scientific article published on 21 March 2022

Gene discovery using Pareto depth sampling distributions

article

Gene expression changes in aging retinal microglia: relationship to microglial support functions and regulation of activation

scientific article published on 19 April 2013

Gene expression signatures and biomarkers of noninvasive and invasive breast cancer cells: comprehensive profiles by representational difference analysis, microarrays and proteomics

scientific article

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

scientific article published on 23 January 2012

Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions

scientific article

Generation of hydrogen peroxide on oxidation of NADH by hepatic plasma membranes

scientific article published on 01 December 1981

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

scientific article published on March 2016

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

scientific article

Genetic association study of age-related macular degeneration in the Spanish population

scientific article published on 25 November 2010

Genetic components in diabetic retinopathy

scientific article published on January 2016

Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management

scientific article

Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits

scientific article published on October 2007

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)

Genome-wide association study and meta-analysis of intraocular pressure

scientific article published on 04 September 2013

Global expression profiling of peripheral Qa-1-restricted CD8αα+TCRαβ+ regulatory T cells reveals innate-like features: implications for immune-regulatory repertoire

scientific article published on 17 August 2011

Glycogen Synthase Kinase 3 Regulates the Genesis of Displaced Retinal Ganglion Cells3

scientific article published in 2021

HiCRes: a computational method to estimate and predict the genomic resolution of Hi-C libraries

scientific article published on 01 April 2022

High throughput screening of co-expressed gene pairs with controlled false discovery rate (FDR) and minimum acceptable strength (MAS).

scientific article published in September 2005

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

scientific article

Human SEC13Rp functions in yeast and is located on transport vesicles budding from the endoplasmic reticulum

scientific article

Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration

scientific article published on 15 October 1997

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

scientific article published on January 2010

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration

scientific article published on December 2013

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

scholarly article

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

scientific 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

scientific article

Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration

scientific article published on 5 February 2016

Increasing evidence for syndromic phenotypes associated with RPGR mutations

scientific article published in April 2004

Inflammation in the pathogenesis of age-related macular degeneration

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

scientific article

Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes

scientific article published on 09 November 2020

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

scientific article

Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects

scientific journal 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

scientific article

Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells

scientific article

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

scientific article

Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy

scientific article

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations

scientific article published on 09 May 2016

Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration

scientific article published on 23 December 2020

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

scientific article

Madeline 2.0 PDE: a new program for local and web-based pedigree drawing

scientific article published on 8 May 2007

Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14.

scientific article published in January 1993

Meta-analysis of genome scans of age-related macular degeneration

scientific article published on 29 June 2005

MicroRNA profile of the developing mouse retina.

scientific article

Minireview: the role of nuclear receptors in photoreceptor differentiation and disease

scientific article

Modulation of cystatin C expression impairs the invasive and tumorigenic potential of human glioblastoma cells

scientific article published in December 2002

Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33

scientific 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

scientific article

Molecular characterization of the murine neural retina leucine zipper gene, Nrl.

scientific article published in November 1993

Molecular dissection of cone photoreceptor-enriched genes encoding transmembrane and secretory proteins

article

Mouse eye gene microarrays for investigating ocular development and disease

scientific article

Multicriteria Gene Screening for Analysis of Differential Expression with DNA Microarrays

article

Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors

scientific article (publication date: 28 September 2001)

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).

scientific journal 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

scientific article

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

scientific article

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

scientific article

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

scientific article

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa

scientific article

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

scientific article published in December 1997

NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies

scientific article published on October 2000

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

Network constrained clustering for gene microarray data

scientific article

Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2

scientific article (publication date: October 1992)

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research

scientific article

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

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

scientific article published on 12 June 2019

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38

scientific article

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.

scientific article

Nrl is required for rod photoreceptor development

scientific journal article

Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice

scientific article published on 14 March 2017

Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments

scientific article published in March 2008

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

scientific article

Nucleotide sequence of a cDNA for the beta 2 subunit isoform of Na+,K(+)-ATPase from human retina

scientific article published on January 1994

Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a

scientific article

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

scientific article published on 02 January 2014

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene

scientific article published in June 2010

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations

scientific article

Photoreceptor Degeneration: Molecular Mechanisms of Photoreceptor Degeneration

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

scientific article published on 3 December 2012

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

scientific article published on 9 June 2004

Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms

scientific article

Pias3 is necessary for dorso-ventral patterning and visual response of retinal cones but is not required for rod photoreceptor differentiation

scientific article

Pluripotent stem cell-derived retinal organoids for disease modeling and development of therapies

scientific article published on 07 June 2020

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

scientific article

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

scientific article

Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina

scientific article published on January 2012

Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in a mouse model of SCA7 retinopathy

scientific article published on 26 December 2006

Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis

scientific article

Protective gene expression changes elicited by an inherited defect in photoreceptor structure

scientific article

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

scientific article

QRX, a novel homeobox gene, modulates photoreceptor gene expression

scientific article

Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria

scientific article

RNA Biology in Retinal Development and Disease

scientific article published on 30 January 2018

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

scientific article

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

scientific article

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

scientific article

RPGR-associated retinal degeneration in human X-linked RP and a murine model

scientific article

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

scientific article

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

scientific article

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15

scientific article

Rdh12 activity and effects on retinoid processing in the murine retina

scientific article published on 08 June 2009

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

scientific article

Recruitment of the rod pathway by cones in the absence of rods.

scientific article published in August 2004

Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL

scientific journal article

Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma

scientific article published on 6 January 2012

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

scientific article

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1

scientific article published on 25 March 2020

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

scientific article published in October 2002

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene

scientific article

Retinal repair by transplantation of photoreceptor precursors

scientific article

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

scientific article published on 11 February 2019

Retinal transcriptome profiling by directional next-generation sequencing using 100 ng of total RNA.

scientific article

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

scientific article

Retinoic acid regulates the expression of photoreceptor transcription factor NRL

scientific article

Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development

scientific journal article

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity

scientific article

Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors

scientific article published on 18 January 2008

Seeing the unseen: Microarray-based gene expression profiling in vision

scientific article published in August 2004

Sequence analysis, expression and chromosomal localization of a gene, isolated from a subtracted human retina cDNA library, that encodes an insulin-like growth factor binding protein (IGFBP2)

scientific article

Seven new loci associated with age-related macular degeneration

scientific article

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

scientific article published in December 1997

Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration

scientific article

Subunit dissociation and diffusion determine the subcellular localization of rod and cone transducins

scientific article published on May 2007

Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.

scientific article

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

scientific article

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors

Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors

scholarly article

The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures

scientific article

The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression

scientific article

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

The golden era of ocular disease gene discovery: race to the finish

scientific article

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation

scientific article published in September 2000

The mRNA of a human class I gene HLA G/HLA 6.0 exhibits a restricted pattern of expression

scientific article published in April 1990

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein

scientific article

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

scientific article

The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina.

scientific article

The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter

scientific article

The transcription-splicing protein NonO/p54nrb and three NonO-interacting proteins bind to distal enhancer region and augment rhodopsin expression

scientific article published on 02 December 2013

Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration

scientific article

Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina

scientific article published on August 2010

Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis

scientific article

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

scientific article

Transcriptome analysis and molecular signature of human retinal pigment epithelium

scientific article

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL.

scholarly article

Transgenic mice expressing Cre-recombinase specifically in M- or S-cone photoreceptors

scientific article published in January 2004

Treatment Paradigms for Retinal and Macular Diseases Using 3-D Retina Cultures Derived From Human Reporter Pluripotent Stem Cell Lines

scientific article published on April 2016

Two Transcription Factors Can Direct Three Photoreceptor Outcomes from Rod Precursor Cells in Mouse Retinal Development ⬇️

scientific article published on August 3, 2011

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

scientific article

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration

scientific article

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

scientific article

Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease

scientific article

What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases

scientific article

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

scientific article

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel

scientific article

XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina

scientific article

[11]Isolation of candidate genes for inherited diseases: Application to X-linked retinal degenerations

article

lambda SHK and lambda AASV: phage vectors for efficient cDNA cloning and expression in mammalian cells

scientific article published on January 1993

pSH4: a mammalian cDNA expression vector

scientific article published on June 1990

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