(Q35671036)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

case report

0 references

title

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

protein function prediction

17 February 2020

main subject

0 references

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Karen Grønskov

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Zeynep Tumer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

Laura Roos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Birgitte Bertelsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Pernille Harris

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Hanne Jensen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

publication date

23 June 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

17 February 2020

copyright license

start time

23 June 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s12881-015-0179-9

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

LRRfinder: a web application for the identification of leucine-rich repeats and an integrative Toll-like receptor database.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

The leucine-rich repeat structure.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Clustal W and Clustal X version 2.0

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Study of p.N247S KERA mutation in a British family with cornea plana.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Clinical and molecular characterization of a family with autosomal recessive cornea plana

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Crystal structure of the dimeric protein core of decorin, the archetypal small leucine-rich repeat proteoglycan.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

A novel KERA mutation associated with autosomal recessive cornea plana

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Predicting deleterious amino acid substitutions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Mutations in KERA, encoding keratocan, cause cornea plana

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Structure and sequence of the gene encoding human keratocan

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

The cloning of mouse keratocan cDNA and genomic DNA and the characterization of its expression during eye development.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

The genetics of cornea plana congenita

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Proteins with leucine-rich repeats

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

The molecular basis of corneal transparency

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Corneal decompensation in recessive cornea plana.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Recessive cornea plana in the Kingdom of Saudi Arabia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

The leucine-rich repeat: a versatile binding motif

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4630934

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26099342

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-015-0179-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26099342%20AND%20SRC:MED&resulttype=core&format=json