Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations (Q46379155)

21 December 2017

review article

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title

Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations (English)

1 reference

21 December 2017

1 reference

Maubaret C

1

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21 December 2017

Hamel C

series ordinal

2

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21 December 2017

publication date

1 January 2005

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21 December 2017

Journal Francais d'Ophtalmologie

published in

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21 December 2017

volume

28

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21 December 2017

issue

1

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21 December 2017

page(s)

71-92

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21 December 2017

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

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Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

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Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

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The Molecular Basis of Visual Excitation

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A cleavable affinity biotinylating agent reveals a retinoid binding role for RPE65

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A human opsin-related gene that encodes a retinaldehyde-binding protein

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

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7 January 2021

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

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7 January 2021

Retinal age pigments generated by self-assembling lysosomotropic detergents

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Morphologic changes in age-related maculopathy

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

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7 January 2021

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

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

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7 January 2021

Mutations in RPE65 cause Leber's congenital amaurosis

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7 January 2021

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

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7 January 2021

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

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7 January 2021

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

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7 January 2021

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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7 January 2021

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

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7 January 2021

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

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7 January 2021

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

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7 January 2021

Nrl is required for rod photoreceptor development

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7 January 2021

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

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7 January 2021

A thyroid hormone receptor that is required for the development of green cone photoreceptors

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7 January 2021

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7 January 2021

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

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7 January 2021

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene

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7 January 2021

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

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7 January 2021

Relatively enhanced S cone function in the Goldmann-Favre syndrome.

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7 January 2021

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

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7 January 2021

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

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7 January 2021

Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes

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7 January 2021

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

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7 January 2021

Rhodopsin content in the outer segment membranes of bovine and frog retinal rods

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

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7 January 2021

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

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7 January 2021

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

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7 January 2021

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene

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7 January 2021

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

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7 January 2021

Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes

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7 January 2021

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene

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7 January 2021

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

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7 January 2021

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

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7 January 2021

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

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7 January 2021

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

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7 January 2021

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

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7 January 2021

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study

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7 January 2021

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

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7 January 2021

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31

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7 January 2021

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

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7 January 2021

Transport to the photoreceptor outer segment by myosin VIIa and kinesin II.

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7 January 2021

Rhodopsin trafficking and its role in retinal dystrophies.

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7 January 2021

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

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7 January 2021

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

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7 January 2021

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

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7 January 2021

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

X-linked recessive atrophic macular degeneration from RPGR mutation

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7 January 2021

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

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7 January 2021

Mutations in the RPGR gene cause X-linked cone dystrophy

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7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

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7 January 2021

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

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7 January 2021

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

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7 January 2021

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

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7 January 2021

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

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7 January 2021

Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

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7 January 2021

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

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7 January 2021

Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres

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7 January 2021

Effects of Müller cell disruption on mouse photoreceptor cell development

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https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

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https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

1 reference

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7 January 2021

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

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7 January 2021

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

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7 January 2021

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

1 reference

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7 January 2021

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

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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%2FS0181-5512%2805%2981029-0

7 January 2021

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice

1 reference

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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

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7 January 2021

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

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7 January 2021

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

1 reference

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7 January 2021

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

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7 January 2021

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

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7 January 2021

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

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

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

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7 January 2021

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

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https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

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

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7 January 2021

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

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7 January 2021

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene

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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

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7 January 2021

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

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7 January 2021

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

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7 January 2021

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

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7 January 2021

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

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7 January 2021

Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

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%2FS0181-5512%2805%2981029-0

7 January 2021

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0181-5512%2805%2981029-0

7 January 2021

10.1016/S0181-5512(05)81029-0

Identifiers

DOI

1 reference

21 December 2017

PubMed ID

15767903

1 reference

21 December 2017