(Q37267017)

19 August 2017

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

1 reference

19 August 2017

Jing Yu Liu

1

1 reference

19 August 2017

Xiaohua Dai

2

1 reference

19 August 2017

Jiqun Sheng

3

1 reference

19 August 2017

Xin Cui

4

1 reference

19 August 2017

Xu Wang

5

1 reference

19 August 2017

Xueqing Jiang

6

1 reference

19 August 2017

Xin Tu

7

1 reference

19 August 2017

Zhaohui Tang

8

1 reference

19 August 2017

Yan Bai

9

1 reference

19 August 2017

Mugen Liu

10

1 reference

19 August 2017

Qing K Wang

11

1 reference

19 August 2017

language of work or name

English

0 references

publication date

3 January 2008

1 reference

Biochemical and Biophysical Research Communications

19 August 2017

1 reference

19 August 2017

367

1 reference

19 August 2017

2

1 reference

19 August 2017

420-426

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

Comprehensive proteomic analysis of the human spliceosome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

RP11 is the second most common locus for dominant retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2712755

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

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18177735

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18177735

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BBRC.2007.12.156

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18177735

1 reference