Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations (Q39959253)

15 September 2017

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations (English)

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15 September 2017

5

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15 September 2017

Jacques S Beckmann

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author name string

Thomas Rio Frio

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1

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PubMed ID

18640990

15 September 2017

Natacha Civic

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2

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PubMed ID

18640990

15 September 2017

Adriana Ransijn

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3

1 reference

15 September 2017

18 July 2008

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15 September 2017

Human Molecular Genetics

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15 September 2017

17

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15 September 2017

3154-3165

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15 September 2017

20

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

15 September 2017

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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/10.1093%2FHMG%2FDDN212

Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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/10.1093%2FHMG%2FDDN212

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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/10.1093%2FHMG%2FDDN212

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/10.1093%2FHMG%2FDDN212

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN212

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/10.1093%2FHMG%2FDDN212

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/10.1093%2FHMG%2FDDN212

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.

21 January 2018

1 reference

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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Multipoint quantitative-trait linkage analysis in general pedigrees

21 January 2018

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Powerful regression-based quantitative-trait linkage analysis of general pedigrees

21 January 2018

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

21 January 2018

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Expanded retina territory by midbrain transformation upon overexpression of Six6 (Optx2) in Xenopus embryos

21 January 2018

1 reference

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The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cup

21 January 2018

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A new GFP-tagged line reveals unexpected Otx2 protein localization in retinal photoreceptors.

21 January 2018

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Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

21 January 2018

1 reference

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In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.

21 January 2018

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Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development

21 January 2018

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Functional roles of Otx2 transcription factor in postnatal mouse retinal development.

21 January 2018

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Atypical patterns of inheritance

21 January 2018

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

21 January 2018

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A combined linkage-physical map of the human genome

21 January 2018

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

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Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci-mapping procedure

21 January 2018

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Regression-based quantitative-trait-locus mapping in the 21st century

21 January 2018

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Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDN212

1 reference

15 September 2017

1 reference

PubMed ID

18640990