Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Autor: Jeroen Bremer, Elisabeth H. van der Heijden, Daryll S. Eichhorn, Rowdy Meijer, Henny H. Lemmink, Hans Scheffer, Richard J. Sinke, Marcel F. Jonkman, Anna M.G. Pasmooij, Peter C. Van den Akker

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 18, Iss , Pp 465-475 (2019)

Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively. Recentl

Externí odkaz: https://doaj.org/article/a5afe6acdf434eada2678f9c57426506

Maternal homocysteine and related B vitamins as risk factors for low birthweight

Autor: Jan M. Sporken, Marije Hogeveen, Henk J. Blom, Per Magne Ueland, Ben A. Semmekrot, Elisabeth H. van der Heijden, Martin den Heijer

Publikováno v: Hogeveen, M, Blom, H J, van der Heijden, E H, Semmekrot, B, Sporken, J M, Ueland, P M & den Heijer, M 2010, ' Maternal homocysteine and related B vitamins as risk factors for low birthweight ', American Journal of Obstetrics and Gynecology, vol. 202, no. 6, pp. no:572.e1 . https://doi.org/10.1016/j.ajog.2010.01.045
American Journal of Obstetrics and Gynecology, 202(6). Mosby Inc.

OBJECTIVE: We designed a large prospective study to explore the relationship between maternal homocysteine concentrations and related B vitamins and birthweight. STUDY DESIGN: Blood was sampled from pregnant women at 30-34 weeks of gestation and thei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aebe1c0eb47b02e321bba0f1188d54e7
https://research.vumc.nl/en/publications/cd0de36a-7bad-42dc-966e-da910230dd34