'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration (Q33767318)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Xia Ran

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Wei-Jun Cai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Xiu-Feng Huang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Qi Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Fan Lu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Jia Qu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Jinyu Wu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

17 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

Long-term neuroprotective effects of NT-4-engineered mesenchymal stem cells injected intravitreally in a mouse model of acute retinal injury

20 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Alterations in energy metabolism, neuroprotection and visual signal transduction in the retina of Parkinsonian, MPTP-treated monkeys

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Mutations in IMPG1 cause vitelliform macular dystrophies.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Genes and mutations causing retinitis pigmentosa

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

An integrated map of genetic variation from 1,092 human genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Next-generation genetic testing for retinitis pigmentosa

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Effects of aging and sensory loss on glial cells in mouse visual and auditory cortices.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Potential cellular functions of N-ethylmaleimide sensitive factor in the photoreceptor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

The UCSC Genome Browser database: update 2011

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Leiden Open Variation Database of the MUTYH gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

The primary cilium as a cellular signaling center: lessons from disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

WebGestalt: an integrated system for exploring gene sets in various biological contexts

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Identifying retinal disease genes: how far have we come, how far do we have to go?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

dbSNP: the NCBI database of genetic variation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Keio Mutation Database for eye disease genes (KMeyeDB).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060621

Transgenic Animal Models for the Study of Inherited Retinal Dystrophies.

14 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FDATABASE%2FBAU047

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FDATABASE%2FBAU047

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FDATABASE%2FBAU047

KMeyeDB: a graphical database of mutations in genes that cause eye diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FDATABASE%2FBAU047

Eye disorder database "KMeyeDB"

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24939193

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/DATABASE/BAU047

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

24939193

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939193%20AND%20SRC:MED&resulttype=core&format=json