A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa (Q61843807)

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27 December 2019

title

A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18030675%20AND%20SRC:MED&resulttype=core&format=json

recessive dystrophic epidermolysis bullosa

27 December 2019

main subject

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author

Matthias Titeux

1

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27 December 2019

Alain Hovnanian

6

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27 December 2019

author name string

Valérie Pendaries

2

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27 December 2019

Laure Tonasso

3

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27 December 2019

Audrey Décha

4

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27 December 2019

Christine Bodemer

5

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27 December 2019

publication date

1 February 2008

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27 December 2019

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27 December 2019

volume

29

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27 December 2019

issue

2

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27 December 2019

page(s)

267-276

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27 December 2019

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A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances oral squamous cell carcinoma susceptibility in a Chinese population.

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Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

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Human keratinocytes express EMMPRIN, an extracellular matrix metalloproteinase inducer

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Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

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Inherited epidermolysis bullosa comes into the new millenium: a revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts

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Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa

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7 January 2021

The estimation and significance of the logarithm of a ratio of frequencies

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The comparative role of activator protein 1 and Smad factors in the regulation of Timp-1 and MMP-1 gene expression by transforming growth factor-beta 1

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7 January 2021

Association of a haplotype of matrix metalloproteinase (MMP)-1 and MMP-3 polymorphisms with renal cell carcinoma.

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7 January 2021

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype

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7 January 2021

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

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7 January 2021

Studies on two siblings with recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) and the plasminogen activator and its inhibitor in the lesion

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7 January 2021

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

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Synergistic transcriptional activation of the tissue inhibitor of metalloproteinases-1 promoter via functional interaction of AP-1 and Ets-1 transcription factors

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A relationship between Matrix metalloproteinase-1 (MMP-1) promoter polymorphism and cervical cancer progression

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7 January 2021

Loss of heterozygosity on chromosome 11q22-23 in melanoma is associated with retention of the insertion polymorphism in the matrix metalloproteinase-1 promoter

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Fra‐1 targets the AP‐1 site/2G single nucleotide polymorphism (ETS site) in the MMP‐1 promoter

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.

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7 January 2021

Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20647

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18030675%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference