Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa. (Q35172047)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

PRP31 pre-mRNA processing factor 31 homolog (yeast)

9 February 2020

main subject

photoreceptor protein

0 references

1 reference

GOA release 2020-03-11

author

Utz Fischer

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christoph Winkler

4

1 reference

ORCID Public Data File 2021

author name string

Jun Yin

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jan Brocher

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

30 July 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

Molecular Neurodegeneration

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

6

1 reference

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9 February 2020

page(s)

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

9 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3158551/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1326-6-56

0 references

cites work

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Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs

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

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Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

13 July 2018

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Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

13 July 2018

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Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

13 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

13 July 2018

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Pre-mRNA splicing and retinitis pigmentosa

13 July 2018

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13 July 2018

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

13 July 2018

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

13 July 2018

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The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP

13 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

13 July 2018

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

13 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

13 July 2018

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

13 July 2018

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

13 July 2018

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13 July 2018

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13 July 2018

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Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

13 July 2018

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13 July 2018

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

13 July 2018

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13 July 2018

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Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

13 July 2018

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13 July 2018

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13 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

13 July 2018

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13 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)

13 July 2018

1 reference

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

13 July 2018

1 reference

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Isolation of a zebrafish rod opsin promoter to generate a transgenic zebrafish line expressing enhanced green fluorescent protein in rod photoreceptors.

13 July 2018

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Phototransduction in transgenic mice after targeted deletion of the rod transducin alpha -subunit

13 July 2018

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A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes

13 July 2018

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Nonsense-mediated mRNA decay in health and disease

13 July 2018

1 reference

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RP11 is the second most common locus for dominant retinitis pigmentosa

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158551

Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae

13 July 2018

1 reference

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The Rx homeobox gene is essential for vertebrate eye development

13 July 2018

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Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.

13 July 2018

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

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

1 reference

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Molecular genetics of human retinal dystrophies

27 September 2018

1 reference

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Phototransduction in a transgenic mouse model of Nougaret night blindness

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21801444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1326-6-56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21801444%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

21801444

1 reference