(Q37704937)

22 August 2017

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title

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait (English)

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22 August 2017

main subject

photoreceptor protein

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Alan F Wright

1

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22 August 2017

Christina F Chakarova

series ordinal

2

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22 August 2017

Mai M Abd El-Aziz

series ordinal

3

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22 August 2017

Shomi S Bhattacharya

series ordinal

4

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22 August 2017

publication date

1 April 2010

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22 August 2017

published in

Nature Reviews Genetics

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22 August 2017

volume

11

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22 August 2017

issue

4

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22 August 2017

page(s)

273-284

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Discrete arcs of increased fundus autofluorescence in retinal dystrophies and functional correlate on microperimetry

22 August 2017

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

31 March 2020

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31 March 2020

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

31 March 2020

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The human retinitis pigmentosa GTPase regulator gene variant database

31 March 2020

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Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

31 March 2020

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31 March 2020

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Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

31 March 2020

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Identification of novel USH2A mutations: implications for the structure of USH2A protein

31 March 2020

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

31 March 2020

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Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

31 March 2020

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

31 March 2020

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Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

31 March 2020

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Complement factor H polymorphism in age-related macular degeneration

31 March 2020

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Complement factor H polymorphism and age-related macular degeneration

31 March 2020

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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

31 March 2020

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Complement factor H variant increases the risk of age-related macular degeneration

31 March 2020

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Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

31 March 2020

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An integrated map of the human regulator of complement activation (RCA) gene cluster on 1q32

31 March 2020

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Finding the missing heritability of complex diseases

31 March 2020

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Missense variations in the fibulin 5 gene and age-related macular degeneration

31 March 2020

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Basal laminar drusen caused by compound heterozygous variants in the CFH gene

31 March 2020

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Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration

31 March 2020

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The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

31 March 2020

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Complement C3 variant and the risk of age-related macular degeneration

31 March 2020

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Structural basis for complement factor H linked age-related macular degeneration

31 March 2020

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A polygenic basis for late-onset disease

31 March 2020

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Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications

31 March 2020

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Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

31 March 2020

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Apoptotic morphology of dentate gyrus granule cells following experimental cortical impact injury in rats: possible role in spatial memory deficits

31 March 2020

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Photoreceptor cell death mechanisms in inherited retinal degeneration.

31 March 2020

1 reference

Multiple, parallel cellular suicide mechanisms participate in photoreceptor cell death

31 March 2020

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Classification of cell death: recommendations of the Nomenclature Committee on Cell Death 2009

31 March 2020

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Mechanisms of cell death in the inherited retinal degenerations

31 March 2020

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The oxygen effect in radiation inactivation of DNA and enzymes

31 March 2020

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ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease

31 March 2020

1 reference

Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents

31 March 2020

1 reference

Novel lipofuscin bisretinoids prominent in human retina and in a model of recessive Stargardt disease

31 March 2020

1 reference

Light and inherited retinal degeneration

31 March 2020

1 reference

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa

31 March 2020

1 reference

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

31 March 2020

1 reference

Fundus autofluorescence imaging: review and perspectives

31 March 2020

1 reference

Reductions in Serum Vitamin A Arrest Accumulation of Toxic Retinal Fluorophores: A Potential Therapy for Treatment of Lipofuscin-Based Retinal Diseases

31 March 2020

1 reference

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

31 March 2020

1 reference

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

31 March 2020

1 reference

Endogenous reactive intermediates as modulators of cell signaling and cell death.

31 March 2020

1 reference

Solar radiation and age-related macular degeneration

31 March 2020

1 reference

Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids

31 March 2020

1 reference

Polyunsaturated very-long-chain C28-C36 fatty acids and retinal physiology

31 March 2020

1 reference

Apical-to-basolateral transcytosis of photoreceptor outer segments induced by lipid peroxidation products in human retinal pigment epithelial cells

31 March 2020

1 reference

Carboxyethylpyrrole protein adducts and autoantibodies, biomarkers for age-related macular degeneration.

31 March 2020

1 reference

Oxidative damage-induced inflammation initiates age-related macular degeneration.

31 March 2020

1 reference

Complement activation by bisretinoid constituents of RPE lipofuscin

31 March 2020

1 reference

Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.

31 March 2020

1 reference

A targeted inhibitor of the alternative complement pathway reduces angiogenesis in a mouse model of age-related macular degeneration

31 March 2020

1 reference

Carboxyethylpyrrole oxidative protein modifications stimulate neovascularization: Implications for age-related macular degeneration

31 March 2020

1 reference

A2E, a component of lipofuscin, is pro-angiogenic in vivo

31 March 2020

1 reference

Immune activation in brain aging and neurodegeneration: too much or too little?

31 March 2020

1 reference

Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration

31 March 2020

1 reference

Photoreceptor neuroprotection in RCS rats via low-dose intravitreal sustained-delivery of fluocinolone acetonide.

31 March 2020

1 reference

Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells

31 March 2020

1 reference

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

31 March 2020

1 reference

The vertebrate primary cilium in development, homeostasis, and disease

31 March 2020

1 reference

When cilia go bad: cilia defects and ciliopathies

31 March 2020

1 reference

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

31 March 2020

1 reference

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

31 March 2020

1 reference

Molecular mechanisms of nitrosative stress-mediated protein misfolding in neurodegenerative diseases

31 March 2020

1 reference

Antioxidants reduce endoplasmic reticulum stress and improve protein secretion

31 March 2020

1 reference

Degradation of misfolded proteins prevents ER-derived oxidative stress and cell death

31 March 2020

1 reference

Signal integration in the endoplasmic reticulum unfolded protein response

31 March 2020

1 reference

IRE1 signaling affects cell fate during the unfolded protein response

31 March 2020

1 reference

Molecular chaperones and photoreceptor function.

31 March 2020

1 reference

Metabolic catastrophe as a means to cancer cell death

31 March 2020

1 reference

IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA

31 March 2020

1 reference

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

31 March 2020

1 reference

Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor

31 March 2020

1 reference

Identification and characterization of rod-derived cone viability factor

31 March 2020

1 reference

Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa

31 March 2020

1 reference

Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect

31 March 2020

1 reference

Mechanisms of photoreceptor death and survival in mammalian retina.

31 March 2020

1 reference

Antioxidants slow photoreceptor cell death in mouse models of retinitis pigmentosa

31 March 2020

1 reference

Increased expression of catalase and superoxide dismutase 2 reduces cone cell death in retinitis pigmentosa

31 March 2020

1 reference

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants

31 March 2020

1 reference

HDAC4 regulates neuronal survival in normal and diseased retinas

31 March 2020

1 reference

The contribution of glycolytic and oxidative pathways to retinal photoreceptor function

31 March 2020

1 reference

Retinal oxygenation and oxygen metabolism in Abyssinian cats with a hereditary retinal degeneration.

31 March 2020

1 reference

Recent advances in our understanding of neurodegeneration

31 March 2020

1 reference

Neurotrophic support and oxidative stress: converging effects in the normal and diseased nervous system

31 March 2020

1 reference

A one-hit model of cell death in inherited neuronal degenerations

31 March 2020

1 reference

Scale-free neurodegeneration: cellular heterogeneity and the stretched exponential kinetics of cell death

31 March 2020

1 reference

Lifespan and mitochondrial control of neurodegeneration

31 March 2020

1 reference

Do organellar genomes function as long-term redox damage sensors?

31 March 2020

1 reference

How mitochondria produce reactive oxygen species

31 March 2020

1 reference

Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa

31 March 2020

1 reference

Significant photoreceptor rescue by treatment with a combination of antioxidants in an animal model for retinal degeneration

31 March 2020

1 reference

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

31 March 2020

1 reference

An experimental platform for systemic drug delivery to the retina.

31 March 2020

1 reference

Retinal repair by transplantation of photoreceptor precursors

31 March 2020

1 reference

Transplantation of human embryonic stem cell-derived photoreceptors restores some visual function in Crx-deficient mice

31 March 2020

1 reference

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

31 March 2020

1 reference

Safety and efficacy of gene transfer for Leber's congenital amaurosis

31 March 2020

1 reference

Prospects for retinal gene replacement therapy.

31 March 2020

1 reference

Recent advances in ocular gene therapy

31 March 2020

1 reference

ENU-mutagenesis: insight into immune function and pathology

31 March 2020

1 reference

Genome-wide ENU mutagenesis to reveal immune regulators

31 March 2020

1 reference

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

31 March 2020

1 reference

Retinal remodeling triggered by photoreceptor degenerations.

31 March 2020

1 reference

Neural remodeling in retinal degeneration.

31 March 2020

1 reference

Rod photoreceptor neurite sprouting in retinitis pigmentosa

31 March 2020

2 references

31 March 2020

12 December 2020

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

1 reference

Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations

31 March 2020

1 reference

Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy

31 March 2020

1 reference

Preservation of photoreceptor morphology and function in P23H rats using an allele independent ribozyme.

31 March 2020

1 reference

Assessment of foveal cone photoreceptors in Stargardt's macular dystrophy using a small dot detection task

31 March 2020

1 reference

Perceived and actual performance of daily tasks: relationship to visual function tests in individuals with retinitis pigmentosa

31 March 2020

1 reference

Leber congenital amaurosis: genes, proteins and disease mechanisms

31 March 2020

1 reference

Targeting antioxidants to mitochondria by conjugation to lipophilic cations.

31 March 2020

1 reference

Stem cells as tools in regenerative therapy for retinal degeneration

31 March 2020

1 reference

Long-term safety and function of RPE from human embryonic stem cells in preclinical models of macular degeneration

31 March 2020

1 reference

Stepwise differentiation of pluripotent stem cells into retinal cells

31 March 2020

1 reference

Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells.

31 March 2020

1 reference

Low rates of hydrogen peroxide production by isolated heart mitochondria associate with long maximum lifespan in vertebrate homeotherms

31 March 2020

1 reference

Redox-based regulation of signal transduction: principles, pitfalls, and promises

31 March 2020

1 reference

Coordination of gene expression between organellar and nuclear genomes

31 March 2020

1 reference

Mitochondrial signaling: the retrograde response

31 March 2020

1 reference

Retinal damage by light in rats

31 March 2020

1 reference

12 December 2020

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation.

1 reference

12 December 2020

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene

1 reference

12 December 2020

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants

1 reference

12 December 2020

In situ detection of fragmented DNA (TUNEL assay) fails to discriminate among apoptosis, necrosis, and autolytic cell death: a cautionary note

1 reference

12 December 2020

A2E, a lipofuscin fluorophore, in human retinal pigmented epithelial cells in culture.

1 reference

12 December 2020

Allelic disequilibrium and allele frequency distribution as a function of social and demographic history

1 reference

12 December 2020

In situ detection of fragmented dna (tunel assay) fails to discriminate among apoptosis, necrosis, and autolytic cell death: A cautionary note

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRG2717

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Dimensions Publication ID

22 August 2017

1026483567

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