(Q33489504)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

Yang Jing

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Chun Liu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Junmin Xu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Liya Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

publication date

29 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

1463-1469

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19649163%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Morphological evaluation of Schnyder's central crystalline dystrophy by confocal microscopy before and after phototherapeutic keratectomy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Fine mapping of the Schnyder's crystalline corneal dystrophy locus

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2718742

Ultrastructural changes in the posterior layers of the cornea in Schnyder's crystalline dystrophy

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19649163

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19649163

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Apolipoprotein E produced by human monocyte-derived macrophages mediates cholesterol efflux that occurs in the absence of added cholesterol acceptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19649163

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:19649163%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference