(Q40278393)

English

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

scientific article published on July 2006

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scholarly article

1 reference

Europe PubMed Central

19 September 2017

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

1 reference

Europe PubMed Central

19 September 2017

1

1 reference

Europe PubMed Central

19 September 2017

author name string

Terri L McGee

2

1 reference

Europe PubMed Central

19 September 2017

Thomas Rio Frio

3

1 reference

Europe PubMed Central

19 September 2017

Roderick V Jensen

4

1 reference

Europe PubMed Central

19 September 2017

Eliot L Berson

5

1 reference

Europe PubMed Central

19 September 2017

Thaddeus P Dryja

6

1 reference

Europe PubMed Central

19 September 2017

publication date

1 July 2006

1 reference

Europe PubMed Central

19 September 2017

1 reference

Europe PubMed Central

19 September 2017

27

1 reference

Europe PubMed Central

19 September 2017

7

1 reference

Europe PubMed Central

19 September 2017

644-653

1 reference

Europe PubMed Central

19 September 2017

RP11 and RP13: unexpected gene loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant Retinitis Pigmentosa With Reduced Penetrance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Silence speaks in spectrin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a yeast snRNP protein and detection of snRNP-snRNP interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Comprehensive proteomic analysis of the human spliceosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20325

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20325

1 reference

Europe PubMed Central

19 September 2017

1 reference

Europe PubMed Central

19 September 2017

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