Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance (Q24616072)

1

Emma M M

Burkitt Wright

1 reference

15 January 2024

Helen L Spencer

2

Helen L

Spencer

1 reference

15 January 2024

Sarah B Daly

3

Sarah B

Daly

1 reference

15 January 2024

Forbes D C Manson

4

Forbes D C

Manson

1 reference

15 January 2024

Leo A H Zeef

5

Leo A H

Zeef

1 reference

15 January 2024

Nicoletta Zoppi

7

Nicoletta

Zoppi

1 reference

15 January 2024

Richard Bonshek

8

Richard

Bonshek

1 reference

15 January 2024

Ioannis Tosounidis

9

Ioannis

Tosounidis

1 reference

15 January 2024

Meyyammai Mohan

10

Meyyammai

Mohan

1 reference

15 January 2024

Colm Madden

11

Colm

Madden

1 reference

15 January 2024

Annabel Dodds

12

Annabel

Dodds

1 reference

15 January 2024

Kate E Chandler

13

Kate E

Chandler

1 reference

15 January 2024

Leon Au

15

Leon

Au

1 reference

15 January 2024

Naz Khan

17

Naz

Khan

1 reference

15 January 2024

Meredith Wilson

19

Meredith

Wilson

1 reference

15 January 2024

Graeme C M Black

23

Graeme C M

American Journal of Human Genetics

Black

1 reference

15 January 2024

language of work or name

English

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publication date

10 June 2011

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published in

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volume

88

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issue

6

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page(s)

767-77

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cites work

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

7 April 2017

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

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Structural abnormalities of the cornea and lid resulting from collagen V mutations

7 April 2017

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Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

7 April 2017

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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

7 April 2017

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

27 September 2017

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

27 September 2017

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The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development

27 September 2017

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

27 September 2017

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FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts

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Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report

30 May 2018

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30 May 2018

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

28 November 2018

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

28 November 2018

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

28 November 2018

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28 November 2018

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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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21664999

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21664999

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Comparison of corneal thickness measurements using Galilei, HR Pentacam, and ultrasound

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21664999

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.05.007

1 reference

4104590

4104590

1 reference

1 reference

1 reference