(Q35519187)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

main subject

photoreceptor protein

0 references

author

Joseph Fogerty

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Joseph C Besharse

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

14 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

Investigative Ophthalmology Visual Science

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

7256-7266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

9 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3207726/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

1 reference

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C1q tumor necrosis factor alpha-related protein isoform 5 is increased in mitochondrial DNA-depleted myocytes and activates AMP-activated protein kinase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Molecular, biochemical and functional characterizations of C1q/TNF family members: adipose-tissue-selective expression patterns, regulation by PPAR-gamma agonist, cysteine-mediated oligomerizations, combinatorial associations and metabolic functions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

The bone morphogenetic protein 1/Tolloid-like metalloproteinases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Spatial and temporal expression of MFRP and its interaction with CTRP5.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking alphavbeta5 integrin.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Targeted disruption of the mPer3 gene: subtle effects on circadian clock function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Role of hepatocyte nuclear factor-4alpha in transcriptional regulation of C1qTNF-related protein 5 in the liver

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Execution of nonsense-mediated mRNA decay: what defines a substrate?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

The mouse's eye and Mfrp: not quite human

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

A new mathematical model for relative quantification in real-time RT-PCR

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3207726

Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21810984

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.11-8112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21810984%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

21810984

1 reference