(Q38076196)

English

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion

scientific article published on 23 January 2013

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 August 2017

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Europe PubMed Central

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

author name string

Virginia M Utz

1

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Craig D Beight

2

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Meghan J Marino

3

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Stephanie A Hagstrom

4

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Elias I Traboulsi

5

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

publication date

23 January 2013

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Ophthalmic Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

183-188

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Retinitis pigmentosa: defined from a molecular point of view

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Prp8 protein: at the heart of the spliceosome

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

RP11 is the second most common locus for dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Ordered and dynamic assembly of single spliceosomes

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

RNA structural requirements for the association of the spliceosomal hPrp31 protein with the U4 and U4atac small nuclear ribonucleoproteins

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

PRPF31 alternative splicing and expression in human retina

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2012.762932

21 January 2018

Identifiers

10.3109/13816810.2012.762932

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

ResearchGate publication ID

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