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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha: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
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