Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile

A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma pr...

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Detalles Bibliográficos
Autores principales: Thanabalasingham, Gaya, Huffman, Jennifer E., Kattla, Jayesh J., Novokmet, Mislav, Rudan, Igor, Gloyn, Anna L., Hayward, Caroline, Adamczyk, Barbara, Reynolds, Rebecca M., Muzinic, Ana, Hassanali, Neelam, Pucic, Maja, Bennett, Amanda J., Essafi, Abdelkader, Polasek, Ozren, Mughal, Saima A., Redzic, Irma, Primorac, Dragan, Zgaga, Lina, Kolcic, Ivana, Hansen, Torben, Gasperikova, Daniela, Tjora, Erling, Strachan, Mark W.J., Nielsen, Trine, Stanik, Juraj, Klimes, Iwar, Pedersen, Oluf B., Njølstad, Pål R., Wild, Sarah H., Gyllensten, Ulf, Gornik, Olga, Wilson, James F., Hastie, Nicholas D., Campbell, Harry, McCarthy, Mark I., Rudd, Pauline M., Owen, Katharine R., Lauc, Gordan, Wright, Alan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2013
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609552/
https://www.ncbi.nlm.nih.gov/pubmed/23274891
http://dx.doi.org/10.2337/db12-0880

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