(Q33942183)

30 July 2017

1 reference

title

Recent advances in the molecular basis of inherited photoreceptor degeneration (English)

1 reference

30 July 2017

main subject

photoreceptor protein

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author name string

Clarke G

series ordinal

1

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30 July 2017

Héon E

series ordinal

2

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30 July 2017

McInnes RR

series ordinal

3

1 reference

30 July 2017

publication date

1 May 2000

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30 July 2017

1 reference

30 July 2017

volume

57

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30 July 2017

issue

5

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30 July 2017

page(s)

313-329

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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

30 July 2017

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

21 January 2018

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

21 January 2018

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

21 January 2018

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Positional cloning of the gene for X-linked retinitis pigmentosa 2

21 January 2018

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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

21 January 2018

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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

21 January 2018

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

21 January 2018

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

21 January 2018

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

21 January 2018

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Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

21 January 2018

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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

21 January 2018

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A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

21 January 2018

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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

21 January 2018

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A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype

21 January 2018

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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

21 January 2018

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Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

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Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders

21 January 2018

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

21 January 2018

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Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins

21 January 2018

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Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

21 January 2018

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

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Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome

21 January 2018

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

21 January 2018

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A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

21 January 2018

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Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

21 January 2018

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Identification of the gene responsible for Best macular dystrophy

21 January 2018

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Human photoreceptor topography

21 January 2018

1 reference

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The renewal of rod and cone outer segments in the rhesus monkey

21 January 2018

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Disc morphogenesis in vertebrate photoreceptors.

21 January 2018

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Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

21 January 2018

1 reference

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Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

21 January 2018

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On the heredity of retinitis pigmentosa

21 January 2018

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Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

21 January 2018

1 reference

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Cochlear and retinal degeneration in the tubby mouse

21 January 2018

1 reference

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Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family

21 January 2018

1 reference

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The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

21 January 2018

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A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

21 January 2018

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Über familiäre, progressive Degeneration in der Maculagegend des Auges

21 January 2018

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A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

Oguchi disease: suggestion of linkage to markers on chromosome 2q

21 January 2018

1 reference

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A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

21 January 2018

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Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa: the equivalent light hypothesis.

21 January 2018

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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects

21 January 2018

1 reference

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

21 January 2018

1 reference

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Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q

21 January 2018

1 reference

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Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

21 January 2018

1 reference

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Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

21 January 2018

1 reference

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

21 January 2018

1 reference

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

21 January 2018

1 reference

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Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

21 January 2018

1 reference

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

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Mechanisms of cell death in the inherited retinal degenerations

21 January 2018

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Oxidative stress, glutamate, and neurodegenerative disorders

21 January 2018

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Ageing and Parkinson's disease: substantia nigra regional selectivity

21 January 2018

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Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature

21 January 2018

1 reference

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A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

21 January 2018

1 reference

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Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

21 January 2018

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Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse

21 January 2018

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Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

21 January 2018

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Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse

21 January 2018

1 reference

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Efficient photoreceptor-targeted gene expression in vivo by recombinant adeno-associated virus

21 January 2018

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Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector

21 January 2018

1 reference

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Temporal and spatial regulation of gene expression mediated by the promoter for the human tissue inhibitor of metalloproteinases-3 (TIMP-3)-encoding gene.

21 January 2018

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Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

21 January 2018

1 reference

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Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration

21 January 2018

1 reference

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Rescue of photoreceptor function by AAV-mediated gene transfer in a mouse model of inherited retinal degeneration

21 January 2018

1 reference

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The reduction of retinene1 to vitamina A1 in vitro

21 January 2018

1 reference

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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

21 January 2018

1 reference

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Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

21 January 2018

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An expanded CAG repeat sequence in spinocerebellar ataxia type 7

21 January 2018

1 reference

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Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

Erratum: Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Distinctive properties of the lamellar and disk-edge structures of the rod outer segment

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Rhodopsin and phototransduction: a model system for G protein-linked receptors

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Light-induced binding of 48-kDa protein to photoreceptor membranes is highly enhanced by phosphorylation of rhodopsin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

1 reference

7 January 2021

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Breaking the rule of three

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

An evaluation of the role of mitochondria in neurodegenerative diseases: mitochondrial mutations and oxidative pathology, protective nuclear responses, and cell death in neurodegeneration

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Safety of <7500 RE (<25000 IU) vitamin A daily in adults with retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

Duration and amplitude of the light-induced cGMP hydrolysis in vertebrate photoreceptors are regulated by multiple phosphorylation of rhodopsin and by arrestin binding

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570501.X

7 January 2021

10.1034/J.1399-0004.2000.570501.X

Identifiers

DOI

1 reference

release_t36z53ydffgclp3sndafpezxxq

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/t36z53ydffgclp3sndafpezxxq

24 November 2022

mapped directly with Wikidata item

1 reference