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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277348/
https://www.ncbi.nlm.nih.gov/pubmed/25541963
http://dx.doi.org/10.1371/journal.pone.0115662

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