(Q24300646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

main subject

uveitis

0 references

photoreceptor protein

0 references

Calpain 5

1 reference

GOA release 2020-03-11

1 reference

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

James C. Folk

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Val C. Sheffield

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Edwin M. Stone

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Vinit B Mahajan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Jessica M Skeie

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Alexander G Bassuk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Terry A Braun

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Heather T Daggett

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

4 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

e1003001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

10 March 2020

copyright license

start time

4 October 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

A look at autoimmunity and inflammation in the eye

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

TopHat: discovering splice junctions with RNA-Seq

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Global data on visual impairment in the year 2002

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

The pathogenic activation of calpain: a marker and mediator of cellular toxicity and disease states

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Calcium-bound structure of calpain and its mechanism of inhibition by calpastatin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Concerted multi-pronged attack by calpastatin to occlude the catalytic cleft of heterodimeric calpains

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

A Ca(2+) switch aligns the active site of calpain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Autolysis of human erythrocyte calpain produces two active enzyme forms with different cell localization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

The calpain family and human disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Detection and localization of calpain 3-like protease in a neuronal cell line: possible regulation of apoptotic cell death through degradation of nuclear IkappaBalpha

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Global estimates of visual impairment: 2010.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

27 September 2017

Genomics and the eye.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Calpain cleavage prediction using multiple kernel learning.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

m-Calpain activation is regulated by its membrane localization and by its binding to phosphatidylinositol 4,5-bisphosphate.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

The molecular basis of human retinal and vitreoretinal diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

The role of calcium-activated protease calpain in experimental retinal pathology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Molecular cloning and characterization of rat and human calpain-5.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Capn5 is expressed in a subset of T cells and is dispensable for development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Proliferative vitreoretinopathy: risk factors and pathobiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

The tra-3 sex determination gene of Caenorhabditis elegans encodes a member of the calpain regulatory protease family.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Autosomal dominant neovascular inflammatory vitreoretinopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Calcium-activated neutral protease (calpain) system: structure, function, and regulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Regulation of the calpain-calpastatin system by membranes (review).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

Diverse mRNA expression patterns of the mouse calpain genes Capn5, Capn6 and Capn11 during development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3464205

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23055945

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23055945

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1003001

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

23055945

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23055945%20AND%20SRC:MED&resulttype=core&format=json