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

Author:

Titeux Matthias,Pendaries Valérie,Tonasso Laure,Décha Audrey,Bodemer Christine,Hovnanian Alain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference48 articles.

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2. Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture;Bauer;J Exp Med,1978

3. Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation;Bodemer;J Invest Dermatol,2003

4. Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line;Boukamp;J Cell Biol,1988

5. Erg, an Ets-family member, differentially regulates human collagenase1 (MMP1) and stromelysin1 (MMP3) gene expression by physically interacting with the Fos/Jun complex;Buttice;Oncogene,1996

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