Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive HF
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Skin
DISEASE(S): Recessive Dystrophic Epidermolysis Bullosa
SUBMITTER: Joern Dengjel
LAB HEAD: Joern Dengjel
PROVIDER: PXD047998 | Pride | 2024-08-31
REPOSITORIES: Pride
Items per page: 1 - 5 of 19 |
The British journal of dermatology 20240901 4
<h4>Background</h4>Recessive dystrophic epidermolysis bullosa (RDEB) is a blistering disease caused by mutations in the gene encoding type VII collagen (C7). RDEB is associated with fibrosis, which is responsible for severe complications. The phenotypic variability observed in siblings with RDEB suggests that epigenetic modifications contribute to disease severity. Identifying epigenetic changes may help to uncover molecular mechanisms underlying RDEB pathogenesis and new therapeutic targets.<h4 ...[more]