Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ectodysplasins/chemistry"'
Autor:
Laure Willen, Pascal Schneider, Aubry Tardivel, Manuel Favre, Lee Kim Swee, Stéphane Demotz, Marja L. Mikkola, Karine Ingold-Salamin, Olivier Gaide
Publikováno v:
J Biol Chem
Journal of Biological Chemistry, Vol. 284, No 40 (2009) pp. 27567-27576
Journal of Biological Chemistry, vol. 284, no. 40, pp. 27567-27576
Journal of Biological Chemistry, Vol. 284, No 40 (2009) pp. 27567-27576
Journal of Biological Chemistry, vol. 284, no. 40, pp. 27567-27576
Mutations in the TNF family ligand EDA1 cause X-linked hypohidrotic ectodermal dysplasia (XLHED), a condition characterized by defective development of skin appendages. The EDA1 protein displays a proteolytic processing site responsible for its conve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068d6b13c26388b5d6b70474d33524c2
https://europepmc.org/articles/PMC2785685/
https://europepmc.org/articles/PMC2785685/
Autor:
Laure Willen, Sylvia A. Frazier-Bowers, Gabriele Mues, Hitesh Kapadia, Rena N. D'Souza, Pascal Schneider, Aubry Tardivel, Robyn Seaman
Publikováno v:
Eur J Hum Genetics
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25
Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a21bcc7915207bf7eb1c97d86656e1