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

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24 January 2020

0 references

0 references

4

1 reference

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24 January 2020

Carlo Rivolta

8

1 reference

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24 January 2020

author name string

Goranka Tanackovic

1

1 reference

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24 January 2020

Adriana Ransijn

2

1 reference

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24 January 2020

Philippe Thibault

3

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24 January 2020

Roscoe Klinck

5

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24 January 2020

Eliot L Berson

6

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24 January 2020

Benoit Chabot

7

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24 January 2020

publication date

5 March 2011

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24 January 2020

published in

Human Molecular Genetics

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24 January 2020

volume

20

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24 January 2020

issue

11

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24 January 2020

page(s)

2116-2130

1 reference

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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

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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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

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8 July 2018

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

8 July 2018

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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

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8 July 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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PRPF31 alternative splicing and expression in human retina

21 January 2018

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Multiple alternative splicing markers for ovarian cancer

21 January 2018

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Dominant Retinitis Pigmentosa With Reduced Penetrance

21 January 2018

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Presplicing complex formation requires two proteins and U2 snRNP

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

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

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Identifiers

DOI

10.1093/HMG/DDR094

1 reference

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24 January 2020

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