(Q91785377)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

title

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

1 reference

Chengzi Huang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

Xigui Long

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

Can Peng

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

Pengsiyuan Lin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

Hu Tan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

Weigang Lv

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

Lingqian Wu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

publication date

11 April 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

Molecular Medicine Reports

24 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

page(s)

4711-4718

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

Corneal ectasia in a boy with homozygous KERA mutation

24 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Analysis of KERA in four families with cornea plana identifies two novel mutations.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Regarding corneal decompensation in recessive cornea plana

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Whole-Exome Enrichment with the Roche NimbleGen SeqCap EZ Exome Library SR Platform

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

A method and server for predicting damaging missense mutations

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Corneal decompensation in recessive cornea plana.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

The leucine-rich repeat structure.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Recessive cornea plana in the Kingdom of Saudi Arabia

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

A novel KERA mutation associated with autosomal recessive cornea plana

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Roles of lumican and keratocan on corneal transparency

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Keratocan-deficient mice display alterations in corneal structure

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

A novel keratocan mutation causing autosomal recessive cornea plana.

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Predicting deleterious amino acid substitutions

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Mutations in KERA, encoding keratocan, cause cornea plana

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Structure and sequence of the gene encoding human keratocan

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

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

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

The genetics of cornea plana congenita

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Crystal structure of porcine ribonuclease inhibitor, a protein with leucine-rich repeats

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

The leucine-rich repeat: a versatile binding motif

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

Proteins with leucine-rich repeats

23 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6522816

23 February 2021

Identifiers

DOI

10.3892/MMR.2019.10153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31059048%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

1 reference