(Q46047549)

19 December 2017

title

PRPF31 alternative splicing and expression in human retina (English)

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19 December 2017

alternative mRNA splicing, via spliceosome

main subject

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2

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19 December 2017

author name string

Goranka Tanackovic

series ordinal

1

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19 December 2017

publication date

1 June 2009

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19 December 2017

published in

Ophthalmic Genetics

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19 December 2017

volume

30

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19 December 2017

issue

2

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19 December 2017

page(s)

76-83

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19 December 2017

https://api.crossref.org/works/10.1080%2F13816810902744621

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Structural and functional diversity generated by alternative mRNA splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Proteomic analysis of post-translational modifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

FAST DB: a website resource for the study of the expression regulation of human gene products

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

A new advance in alternative splicing databases: from catalogue to detailed analysis of regulation of expression and function of human alternative splicing variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Alternative splicing: new insights from global analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Pre-mRNA splicing and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

A complementation method for functional analysis of mammalian genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Changes in translational yield regulate tissue-specific expression of beta-glucuronidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Tissue-specific codon usage and the expression of human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

Identification and characterization of a novel RPGR isoform in human retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810902744621

10.1080/13816810902744621

21 January 2018

Identifiers

DOI

1 reference

19 December 2017

PubMed ID

19373678

1 reference

19 December 2017