(Q42092976)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

The RPGRIP1-deficient dog, a promising canine model for gene therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

0 references

12

Fabienne Rolling

0 references

author name string

Elsa Lhériteau

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Lyse Libeau

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Knut Stieger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Jack-Yves Deschamps

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Alexandra Mendes-Madeira

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Nathalie Provost

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Francoise Lemoine

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Cathryn Mellersh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

N Matthew Ellinwood

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Yan Cherel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Philippe Moullier

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Fabienne Rolling

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

1 reference

18 February 2009

1 reference

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21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

349-361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

21 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Effect of gene therapy on visual function in Leber's congenital amaurosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Safety and efficacy of gene transfer for Leber's congenital amaurosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Guidelines for clinical electroretinography in the dog.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

TUNEL apoptotic cell detection in tissue sections: critical evaluation and improvement

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Optical coherence tomography

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Evaluation of genotype-phenotype associations in leber congenital amaurosis

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Gene therapy restores vision in a canine model of childhood blindness

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642837

Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone-rod dystrophy

17 August 2018

1 reference

12 December 2020

Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund

1 reference

12 December 2020

Progressive retinal atrophy in miniature longhaired dachshund dogs

1 reference

12 December 2020

Optical biopsy and imaging using optical coherence tomography

1 reference

12 December 2020

A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19223988%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

PubMed publication ID

19223988

1 reference