Update on the molecular genetics of retinitis pigmentosa (Q28216433)

Europe PubMed Central

title

Update on the molecular genetics of retinitis pigmentosa (English)

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Q Wang

1

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Q Chen

2

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K Zhao

3

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L Wang

4

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E I Traboulsi

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

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language of work or name

English

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publication date

September 2001

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published in

Ophthalmic Genetics

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volume

22

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issue

3

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page(s)

133-54

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cites work

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

22 April 2017

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

22 April 2017

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Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

22 April 2017

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On the heredity of retinitis pigmentosa

22 April 2017

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Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

21 January 2018

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

21 January 2018

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Crystal structure of rhodopsin: A G protein-coupled receptor

21 January 2018

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A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

21 January 2018

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

21 January 2018

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Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa

21 January 2018

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Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

21 January 2018

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Morphological, physiological, and biochemical changes in rhodopsin knockout mice

21 January 2018

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Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 January 2018

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Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.

21 January 2018

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Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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A conserved retina-specific gene encodes a basic motif/leucine zipper domain

21 January 2018

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

21 January 2018

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Segregation of a PRKCG mutation in two RP11 families

21 January 2018

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A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

21 January 2018

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A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

21 January 2018

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A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

21 January 2018

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

21 January 2018

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Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration

21 January 2018

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

21 January 2018

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Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

21 January 2018

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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

21 January 2018

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

21 January 2018

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Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1076%2FOPGE.22.3.133.2224

Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channel

21 January 2018

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TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

21 January 2018

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Identification of a photoreceptor cell-specific nuclear receptor

21 January 2018

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

21 January 2018

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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

21 January 2018

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A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

21 January 2018

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

21 January 2018

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The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

21 January 2018

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https://api.crossref.org/works/10.1076%2FOPGE.22.3.133.2224

The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner

21 January 2018

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Identification of a novel protein interacting with RPGR.

21 January 2018

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https://api.crossref.org/works/10.1076%2FOPGE.22.3.133.2224

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.3.133.2224

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.22.3.133.2224

A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1076%2FOPGE.22.3.133.2224