(Q39992013)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

7

1 reference

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5 January 2020

author name string

María José Gamundi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Imma Hernan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Marta Muntanyola

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Miquel Maseras

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Pedro López-Romero

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Rebeca Alvarez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Salud Borrego

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Miguel Carballo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

1 June 2008

1 reference

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5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

6

1 reference

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5 January 2020

page(s)

869-878

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18412284%20AND%20SRC:MED&resulttype=core&format=json

Variance stabilization applied to microarray data calibration and to the quantification of differential expression

5 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

Biochemistry and regulation of pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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/10.1002%2FHUMU.20747

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Pre-mRNA splicing and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Prp8 protein: at the heart of the spliceosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20747

1 reference

7 January 2021

The structure and function of proteins involved in mammalian pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

A computational scan for U12-dependent introns in the human genome sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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/10.1002%2FHUMU.20747

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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/10.1002%2FHUMU.20747

7 January 2021

Linear models and empirical bayes methods for assessing differential expression in microarray experiments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Use of within-array replicate spots for assessing differential expression in microarray experiments.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Pre-mRNA splicing: the discovery of a new spliceosome doubles the challenge

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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/10.1002%2FHUMU.20747

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021

Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20747

7 January 2021