(Q37587564)

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

scientific article published on 26 April 2013

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Europe PubMed Central

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1 March 2020

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23680354%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

extracellular matrix

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brittle cornea syndrome

1 reference

based on heuristic

inferred from title

Matthias R Baumgartner

10

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1 March 2020

12

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1 March 2020

Marianne Rohrbach

1

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1 March 2020

3

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1 March 2020

Andreas Janecke

6

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1 March 2020

13

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1 March 2020

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1 March 2020

author name string

Helen L Spencer

2

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1 March 2020

Emma M M Burkitt-Wright

4

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1 March 2020

Céline Bürer

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1 March 2020

Madhura Bakshi

7

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1 March 2020

David Sillence

8

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1 March 2020

Hailah Al-Hussain

9

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1 March 2020

Beat Steinmann

11

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1 March 2020

publication date

26 April 2013

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1 March 2020

Molecular Genetics and Metabolism

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1 March 2020

109

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1 March 2020

3

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1 March 2020

289-295

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1 March 2020

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Exogenous fibroblast growth factor-10 induces cystic lung development with altered target gene expression in the presence of heparin in cultures of embryonic rat lung

1 reference

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23 August 2017

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Interaction of human thrombospondin with types I-V collagen: direct binding and electron microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

23 August 2017

Syndrome of brittle cornea, blue sclera, and joint hyperextensibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

6 September 2017

Clusterin induces matrix metalloproteinase-9 expression via ERK1/2 and PI3K/Akt/NF-κB pathways in monocytes/macrophages.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

6 September 2017

Molecular mechanisms of the antimetastatic activity of nuclear clusterin in prostate cancer cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

6 September 2017

A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

25 June 2018

Analysis of platelet adhesion with a radioactive chemical crosslinking reagent: interaction of thrombospondin with fibronectin and collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

25 June 2018

Brittle cornea. A familial trait associated with blue sclera

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

25 June 2018

Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

25 June 2018

Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

25 June 2018

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

1 September 2018

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

1 September 2018

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

1 September 2018

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

1 September 2018

Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

1 September 2018

Corneal abnormalities in Ehlers-Danlos syndrome type VI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

1 September 2018

Collagen-related genes influence the glaucoma risk factor, central corneal thickness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3925994

3 December 2018

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.014

7 January 2021

Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.014

7 January 2021

A novel mutation in PRDM5 in brittle cornea syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.014

7 January 2021

Clusterin deficiency in eyes with pseudoexfoliation syndrome may be implicated in the aggregation and deposition of pseudoexfoliative material

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.014

7 January 2021

Structural organization of the thrombospondin molecule

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.014

7 January 2021

Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases

1 reference

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7 January 2021

A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice

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7 January 2021

Identifiers

10.1016/J.YMGME.2013.04.014

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1 March 2020

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1 March 2020

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