(Q33715782)

28 July 2017

9 references

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

13 December 2019

18 July 2020

3 November 2020

6 November 2020

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports (English)

1 reference

28 July 2017

9 references

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

13 December 2019

18 July 2020

3 November 2020

6 November 2020

1 reference

14 September 2019

2 references

13 December 2019

3 November 2020

1 reference

18 July 2020

1 reference

6 November 2020

8

0 references

Kinga Bujakowska

2

object named as

Kinga Bujakowska

1 reference

28 July 2017

Christina Zeitz

10

0 references

Marie-Elise Lancelot

4

object named as

Marie-Elise Lancelot

1 reference

Veselina Moskova-Doumanova

28 July 2017

5

object named as

Veselina Moskova-Doumanova

1 reference

28 July 2017

3

Saddek Mohand-Saïd

1 reference

28 July 2017

7

Aline Antonio

1 reference

28 July 2017

1

Isabelle Audo

1 reference

28 July 2017

Naushin H Waseem

6

1 reference

28 July 2017

Shomi S Bhattacharya

9

1 reference

28 July 2017

language of work or name

1 reference

12 October 2010

10 references

28 July 2017

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

13 December 2019

18 July 2020

3 November 2020

6 November 2020

10 references

28 July 2017

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

13 December 2019

18 July 2020

3 November 2020

6 November 2020

11

1 reference

28 July 2017

page(s)

145

1 reference

Creative Commons Attribution 2.0 Generic

28 July 2017

copyright license

9 references

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

13 December 2019

18 July 2020

3 November 2020

on focus list of Wikimedia project

6 November 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Perspective on genes and mutations causing retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Rod ERGs in retinitis pigmentosa and cone-rod degeneration.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Differential effect of the rd mutation on rods and cones in the mouse retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-145

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-145

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2984399

Histopathology of the human retina in retinitis pigmentosa

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20939871

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20939871

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-11-145

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference