Retinitis pigmentosa (Q29616538)

Europe PubMed Central

title

Retinitis pigmentosa (English)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

0 references

Hartong DT

1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

Berson EL

series ordinal

2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

Dryja TP

series ordinal

3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

language of work or name

1 reference

30 April 2017

publication date

18 November 2006

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

volume

368

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

issue

9549

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

page(s)

1795-809

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

Prevalence of retinitis pigmentosa in Maine

30 April 2017

cites work

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Registered blindness and low vision in Kuwait

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Usher syndrome: definition and estimate of prevalence from two high-risk populations

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Usher syndrome type III can mimic other types of Usher syndrome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The epidemiology of retinitis pigmentosa in Denmark

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Treatable forms of retinitis pigmentosa associated with systemic neurological disorders

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Reading Performance in Patients with Retinitis Pigmentosa: A Study Using the MNREAD Charts

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Risk Factors for Genetic Typing and Detection in Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Contrast sensitivity in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

A modified protocol for the assessment of visual function in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The frequency of posterior subcapsular cataract in the hereditary retinal degenerations.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Prevalence of posterior subcapsular lens opacities in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Histopathology of bone spicule pigmentation in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Temporal aspects of the electroretinogram

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rates of change differ among measures of visual function in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The association between visual acuity and central retinal thickness in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Comparison of ultrahigh- and standard-resolution optical coherence tomography for imaging macular pathology

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rate of visual field loss in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Relationship between difficulty in performing daily activities and clinical measures of visual function in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

CRB1 mutation spectrum in inherited retinal dystrophies

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Clinical and histopathologic findings in clumped pigmentary retinal degeneration

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Missense rhodopsin mutation in a family with recessive RP

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutational spectrum in Usher syndrome type II.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The oligogenic properties of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Novel frameshift mutations in CRX associated with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The cGMP-phosphodiesterase and its contribution to sensitivity regulation in retinal rods

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Subunit stoichiometry of retinal rod cGMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Glutamic acid-rich proteins of rod photoreceptors are natively unfolded

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

A palmitoylation switch mechanism in the regulation of the visual cycle

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

RPE65 is the isomerohydrolase in the retinoid visual cycle

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

A photic visual cycle of rhodopsin regeneration is dependent on Rgr.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Severe retinal degeneration associated with disruption of semaphorin 4A.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Comprehensive proteomic analysis of the human spliceosome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Interactions in the network of Usher syndrome type 1 proteins

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Characterization of a ceramide kinase-like protein

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rhodopsin maturation antagonized by dominant rhodopsin mutants

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4).

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Saving cone cells in hereditary rod diseases: a possible role for rod-derived cone viability factor (RdCVF) therapy

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Identification and characterization of rod-derived cone viability factor

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Supplemental vitamin A retards loss of ERG amplitude in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Vitamin A supplementation for retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Vitamin A intake and hip fractures among postmenopausal women

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Serum retinol levels and the risk of fracture

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Retinoic acid embryopathy

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Chemistry and metabolism of lipids in the vertebrate retina

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Electroretinographic Responses Following Vitamin A Therapy in A-Beta-Lipoproteinemia

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Combined vitamin A and E therapy prevents retinal electrophysiological deterioration in abetalipoproteinaemia

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Refsum's disease: management by diet and plasmapheresis

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Light deprivation and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Light deprivation and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Advances in night vision technology. A pocketscope for patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Improved mobility and independence of night-blind people using night-vision goggles.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Improving nighttime mobility in persons with night blindness caused by retinitis pigmentosa: A comparison of two low-vision mobility devices.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

In utero gene therapy rescues vision in a murine model of congenital blindness

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Gene transfer in the RPE65 null mutation dog: relationship between construct volume, visual behavior and electroretinographic (ERG) results

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Assessment of structure and function over a 3-year period after gene transfer in RPE65-/- dogs

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

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/10.1016/S0140-6736(06)69740-7

7 January 2021

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Ribozyme rescue of photoreceptor cells in P23H transgenic rats: long-term survival and late-stage therapy.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Expression of Bcl-2 protects against photoreceptor degeneration in retinal degeneration slow (rds) mice

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Photoreceptor preservation in the S334ter model of retinitis pigmentosa by a novel estradiol analog

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Transplantation of retinal pigment epithelial cells to immature and adult rat hosts: short- and long-term survival characteristics

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Photoreceptor repair in response to RPE transplants in RCS rats: outer segment regeneration

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Improvement of the pupillary light reflex of Royal College of Surgeons rats following RPE cell grafts

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Photoreceptor transplantation in retinitis pigmentosa: short-term follow-up

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

GDF11 controls the timing of progenitor cell competence in developing retina

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Retinal stem/progenitor properties of iris pigment epithelial cells

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

A novel in vitro retinal differentiation model by co-culturing adult human bone marrow stem cells with retinal pigmented epithelium cells

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Epidermal growth factor is a neuronal differentiation factor for retinal stem cells in vitro.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Embryonic stem cell-derived neural progenitors incorporate into degenerating retina and enhance survival of host photoreceptors

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Retinal incorporation and differentiation of neural precursors derived from human embryonic stem cells

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Transplantation of neuroblastic progenitor cells as a sheet preserves and restores retinal function.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Facile isolation and the characterization of human retinal stem cells

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Vision change after sheet transplant of fetal retina with retinal pigment epithelium to a patient with retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

The artificial silicon retina microchip for the treatment of vision loss from retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Possible sources of neuroprotection following subretinal silicon chip implantation in RCS rats

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Thresholds for activation of rabbit retinal ganglion cells with relatively large, extracellular microelectrodes

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Creating a meaningful visual perception in blind volunteers by optic nerve stimulation.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Direct stimulation of optic nerve by electrodes implanted in optic disc of rabbit eyes.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Feasibility of a visual prosthesis for the blind based on intracortical microstimulation of the visual cortex

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Mapping of functional organization in human visual cortex: electrical cortical stimulation

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Perceptual efficacy of electrical stimulation of human retina with a microelectrode array during short-term surgical trials

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

Perceptual thresholds and electrode impedance in three retinal prosthesis subjects.

1 reference

https://api.crossref.org/works/10.1016/S0140-6736(06)69740-7

7 January 2021

10.1016/S0140-6736(06)69740-7

Identifiers

DOI

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=17113430

30 April 2017

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

110101

OpenCitations bibliographic resource ID

110101

1 reference