Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile:Diabetes

Autor: Thanabalasingham, G., Huffman, J. E., Kattla, J. J., Novokmet, M., Rudan, I., Gloyn, A. L., Hayward, C., Adamczyk, B., Reynolds, R. M., Muzinic, A., Hassanali, N., Pucic, M., Bennett, A. J., Essafi, A., Polasek, O., Mughal, S. A., Redzic, I., Primorac, D., Zgaga, L., Kokic, I., Hansen, T., Gasperikova, D., Tjora, E., Strachan, M. W. J., Nielsen, T., Stanik, J., Klimes, I., Pedersen, O. B., Njolstad, P. R., Wild, S. H., Gyllensten, U., Gornik, O., Wilson, J. F., Hastie, N. D., Campbell, H., McCarthy, M. I., Rudd, P. M., Owen, K. R., Lauc, G., Wright, A. F.

Publikováno v: Thanabalasingham, G, Huffman, J E, Kattla, J J, Novokmet, M, Rudan, I, Gloyn, A L, Hayward, C, Adamczyk, B, Reynolds, R M, Muzinic, A, Hassanali, N, Pucic, M, Bennett, A J, Essafi, A, Polasek, O, Mughal, S A, Redzic, I, Primorac, D, Zgaga, L, Kokic, I, Hansen, T, Gasperikova, D, Tjora, E, Strachan, M W J, Nielsen, T, Stanik, J, Klimes, I, Pedersen, O B, Njolstad, P R, Wild, S H, Gyllensten, U, Gornik, O, Wilson, J F, Hastie, N D, Campbell, H, McCarthy, M I, Rudd, P M, Owen, K R, Lauc, G & Wright, A F 2013, ' Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile : Diabetes ', Diabetes, vol. 62, pp. 1329-1337 . https://doi.org/10.2337/db12-0880

A recent genome-wide association study identified hepatocyte nuclear factor 1-alpha (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MOD?) would display

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