(Q34955438)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

0 references

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Carlo Rivolta

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

author name string

Goranka Tanackovic

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Adriana Ransijn

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Philippe Thibault

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Roscoe Klinck

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Eliot L Berson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Benoit Chabot

7

1 reference

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24 January 2020

publication date

5 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

published in

Human Molecular Genetics

1 reference

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24 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

2116-2130

1 reference

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24 January 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

24 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3090192/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family

8 July 2018

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The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing

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ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8.

8 July 2018

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

8 July 2018

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8 July 2018

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Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

1 reference

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

8 July 2018

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

8 July 2018

1 reference

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Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65)

8 July 2018

1 reference

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

8 July 2018

1 reference

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The EF-G-like GTPase Snu114p regulates spliceosome dynamics mediated by Brr2p, a DExD/H box ATPase

8 July 2018

1 reference

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Protein composition and electron microscopy structure of affinity-purified human spliceosomal B complexes isolated under physiological conditions

8 July 2018

1 reference

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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Prp8 protein: at the heart of the spliceosome

8 July 2018

1 reference

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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Identification of alternative splicing regulators by RNA interference in Drosophila

8 July 2018

1 reference

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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Splicing double: insights from the second spliceosome

8 July 2018

1 reference

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8 July 2018

1 reference

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Statistical significance for genomewide studies

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Central region of the human splicing factor Hprp3p interacts with Hprp4p

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

A mutation in the Gsk3-binding domain of zebrafish Masterblind/Axin1 leads to a fate transformation of telencephalon and eyes to diencephalon

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

The human homologue of the yeast splicing factor prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Extensive genetic interactions between PRP8 and PRP17/CDC40, two yeast genes involved in pre-mRNA splicing and cell cycle progression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

RNA unwinding in U4/U6 snRNPs requires ATP hydrolysis and the DEIH-box splicing factor Brr2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Mutations within the yeast U4/U6 snRNP protein Prp4 affect a late stage of spliceosome assembly

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Highly diverged U4 and U6 small nuclear RNAs required for splicing rare AT-AC introns

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Mammalian splicing factor SF1 is encoded by variant cDNAs and binds to RNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Retinitis pigmentosa. The Friedenwald Lecture

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Splicing factor SF3a60 is the mammalian homologue of PRP9 of S.cerevisiae: the conserved zinc finger-like motif is functionally exchangeable in vivo

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Mammalian splicing factor SF3a120 represents a new member of the SURP family of proteins and is homologous to the essential splicing factor PRP21p of Saccharomyces cerevisiae.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

A U1 small nuclear ribonucleoprotein particle with altered specificity induces alternative splicing of an adenovirus E1A mRNA precursor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

A splicing factor that is inactivated during in vivo heat shock is functionally equivalent to the [U4/U6.U5] triple snRNP-specific proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

The low-abundance U11 and U12 small nuclear ribonucleoproteins (snRNPs) interact to form a two-snRNP complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome.

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

Isolation of an active step I spliceosome and composition of its RNP core.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

Human PRP4 kinase is required for stable tri-snRNP association during spliceosomal B complex formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

PRPF31 alternative splicing and expression in human retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

Multiple alternative splicing markers for ovarian cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR094

Dominant Retinitis Pigmentosa With Reduced Penetrance

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3090192

Presplicing complex formation requires two proteins and U2 snRNP

26 October 2018

1 reference

12 December 2020

Preparation and fractionation of mammalian extracts active in pre-mRNA splicing

1 reference

12 December 2020

Separation of splicing factor SF3 into two components and purification of SF3a activity

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

RP11 and RP13: unexpected gene loci

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR094

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21378395%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference