Carriers of Loss-of-Function Mutations in EXT Display Impaired Pancreatic Beta-Cell Reserve Due to Smaller Pancreas Volume

Exotosin (EXT) proteins are involved in the chain elongation step of heparan sulfate (HS) biosynthesis, which is intricately involved in organ development. Loss of function mutations (LOF) in EXT1 and EXT2 result in hereditary exostoses (HME). Interestingly, HS plays a role in pancreas development a...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Bernelot Moens, Sophie J., Mooij, Hans L., Hassing, H . Carlijne, Kruit, Janine K., Witjes, Julia J., van de Sande, Michiel A. J., Nederveen, Aart J., Xu, Ding, Dallinga-Thie, Geesje M., Esko, Jeffrey D., Stroes, Erik S. G., Nieuwdorp, Max
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4277348/
https://ncbi.nlm.nih.gov/pubmed/25541963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0115662
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars