Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa

Pironon, Nathalie; Gasparyan, Artyom; Yubero, María; Duchatelet, Sabine; Hovhannesyan, Kristina; Leclerc-Mercier, Stephanie; Kostandyan, Natella; Palisson, Francis; Sarkisian, Tamara; Titeux, Matthias; Fuentes, Ignacia; Hovnanian, Alain

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Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa

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Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.pdf (1.84 MB)

Date

2025

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Article

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Artículos Medicina y Ciencias de la Salud

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Authors

Hovhannesyan, Kristina

Leclerc-Mercier, Stephanie

item.page.doiurl

https://doi.org/10.1038/s41431-024-01717-5

URI

https://hdl.handle.net/11447/10954

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Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma,...

Citation

Pironon N, Gasparyan A, Yubero MJ, Duchatelet S, Hovhannesyan K, Leclerc-Mercier S, Kostandyan N, Palisson F, Sarkisian T, Titeux M, Fuentes I, Hovnanian A. Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa. Eur J Hum Genet. 2025 Mar;33(3):344-350. doi: 10.1038/s41431-024-01717-5

Keywords

Epidermolysis Bullosa Dystrophica* / metabolism , Epidermolysis Bullosa Dystrophica* / pathology , Sp1 Transcription Factor* / genetics , Sp1 Transcription Factor* / metabolism

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