Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Geoffrey Duqué"'
Autor:
Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L. Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S. Swanson, Alexander Gheldof, Claudia Spits, D. Karen
Publikováno v:
Biology Open, Vol 11, Iss 1 (2022)
Skeletal muscle tissue is severely affected in myotonic dystrophy type 1 (DM1) patients, characterised by muscle weakness, myotonia and muscle immaturity in the most severe congenital form of the disease. Previously, it was not known at what stage du
Externí odkaz:
https://doaj.org/article/18c90ea6abe240b6b187510af8fdf853
Autor:
Simon Ardui, Claudia Spits, Joris Vermeesch, Geoffrey Duqué, Alexander Gheldof, Silvie Franck, Joke Allemeersch, Pierre Hilven, Dominika Dziedzicka, Fien Vanroye, Yannick De Vlaeminck, Lise Barbé, Karen Sermon
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene, where expansion size and somatic mosaicism correlates with disease severity and age of onset. While it is known that the mismatch repair protein MSH2 contributes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6affc08e28437152db51fb8118248ddd
https://biblio.vub.ac.be/vubir/msh2-knockdown-shows-ctg-repeat-stability-and-concomitant-upstream-demethylation-at-the-dmpk-locus-in-myotonic-dystrophy-type-1-human-embryonic-stem-cells(21e21ba3-53a1-42e9-a30a-9d3a7cae4a0f).html
https://biblio.vub.ac.be/vubir/msh2-knockdown-shows-ctg-repeat-stability-and-concomitant-upstream-demethylation-at-the-dmpk-locus-in-myotonic-dystrophy-type-1-human-embryonic-stem-cells(21e21ba3-53a1-42e9-a30a-9d3a7cae4a0f).html