(Q35531759)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

A novel PIKFYVE mutation in fleck corneal dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

main subject

fleck corneal dystrophy

1 reference

Andreas Kotoulas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Haris Kokotas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Konstantinos Kopsidas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Konstantinos Droutsas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Maria Grigoriadou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Hasret Bajrami

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Daniel F Schorderet

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Michael B Petersen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

25 October 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

2776-2781

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

PIKfyve: Partners, significance, debates and paradoxes

16 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=3209427

Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Functional dissection of lipid and protein kinase signals of PIKfyve reveals the role of PtdIns 3,5-P2 production for endomembrane integrity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Cloning, characterization, and expression of a novel Zn2+-binding FYVE finger-containing phosphoinositide kinase in insulin-sensitive cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

A simple salting out procedure for extracting DNA from human nucleated cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

A Clinical and Histopathological Study of François-Neetens Speckled Corneal Dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Corneal fleck dystrophy in an English family

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

[New hereditary-familial dystrophy of the corneal parenchyma (spotted hereditary dystrophy)]

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3209427

Fleck dystrophy of the cornea; a report of cases from three generations of a family

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22065932

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22065932%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

22065932

1 reference