(Q30376939)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Predicting the pathogenicity of RPE65 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author

Alessandro Iannaccone

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Samuel G. Jacobson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Robert F. Mullins

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Edwin M. Stone

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

A R Philp

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

M Jin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

S Li

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

E I Schindler

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

B L Lam

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

R G Weleber

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

G A Fishman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Gabriel H Travis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

1 August 2009

1 reference

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27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

1183-1188

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

27 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=2717180

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

The complete genome of an individual by massively parallel DNA sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Role of LRAT on the retinoid isomerase activity and membrane association of Rpe65

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

RPE65 is the isomerohydrolase in the retinoid visual cycle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Finding and interpreting genetic variations that are important to ophthalmologists

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Rpe65 Is a Retinyl Ester Binding Protein That Presents Insoluble Substrate to the Isomerase in Retinal Pigment Epithelial Cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Isomerization and oxidation of vitamin a in cone-dominant retinas: a novel pathway for visual-pigment regeneration in daylight

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Mutations in RPE65 cause Leber's congenital amaurosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Retinyl esters are the substrate for isomerohydrolase.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2717180

Amino acid substitution matrices from protein blocks

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19431183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19431183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19431183%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

19431183

1 reference