Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration (Q34135509)

31 July 2017

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration (English)

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31 July 2017

3

Kinga Bujakowska

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31 July 2017

7

Chris F Inglehearn

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Eric A Pierce

object named as

Eric A Pierce

9

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author name string

John J Graziotto

1

1 reference

31 July 2017

Michael H Farkas

2

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31 July 2017

Bertrand M Deramaudt

4

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31 July 2017

Qi Zhang

5

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31 July 2017

Emeline F Nandrot

6

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31 July 2017

Shomi S Bhattacharya

8

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31 July 2017

language of work or name

English

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publication date

5 January 2011

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Investigative Ophthalmology Visual Science

31 July 2017

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31 July 2017

52

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31 July 2017

190-198

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31 July 2017

1

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describes a project that uses

31 July 2017

ImageQuant

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3053274/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

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Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

5 July 2018

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Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

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Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

5 July 2018

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5 July 2018

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Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa

5 July 2018

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Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study.

5 July 2018

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Pre-mRNA splicing and retinitis pigmentosa

5 July 2018

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Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

5 July 2018

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Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

5 July 2018

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Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations

5 July 2018

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Prp8 protein: at the heart of the spliceosome

5 July 2018

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Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells

5 July 2018

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Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking alphavbeta5 integrin.

5 July 2018

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Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex

5 July 2018

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

5 July 2018

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RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies

5 July 2018

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A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa

5 July 2018

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RP1 is required for the correct stacking of outer segment discs

5 July 2018

1 reference

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Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family

5 July 2018

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5 July 2018

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Pre-mRNA splicing: awash in a sea of proteins

5 July 2018

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Central region of the human splicing factor Hprp3p interacts with Hprp4p

5 July 2018

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Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing

5 July 2018

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

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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Pathways to photoreceptor cell death in inherited retinal degenerations

5 July 2018

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A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA

5 July 2018

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Functional contacts with a range of splicing proteins suggest a central role for Brr2p in the dynamic control of the order of events in spliceosomes of Saccharomyces cerevisiae

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Basal linear deposit and large drusen are specific for early age-related maculopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6.U5 tri-snRNP.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

The human U4/U6 snRNP contains 60 and 90kD proteins that are structurally homologous to the yeast splicing factors Prp4p and Prp3p

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Retinitis pigmentosa. The Friedenwald Lecture

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Monoclonal antibodies to nucleic acid-containing cellular constituents: probes for molecular biology and autoimmune disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

36B4 cDNA used as an estradiol-independent mRNA control is the cDNA for human acidic ribosomal phosphoprotein PO

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Epidemiology of retinitis pigmentosa in Denmark.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3053274

Retinal ultrastructure in advanced retinitis pigmentosa

28 October 2018

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments

1 reference

12 December 2020

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease

1 reference

12 December 2020

Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.10-5194

1 reference

31 July 2017

1 reference

31 July 2017

1 reference