Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Autor: Bowman P., Sulen A., Barbetti F., Beltrand J., Svalastoga P., Codner E., Tessmann E. H., Juliusson P. B., Skrivarhaug T., Pearson E. R., Flanagan S. E., Babiker T., Thomas N. J., Shepherd M. H., Ellard S., Klimes I., Szopa M., Polak M., Iafusco D., Hattersley A. T., Njolstad P. R., Aisenberg J., Akkurt I., Abdul-Latif H., Al-Abdullah A., Barak L., Van Den Bergh J., Bertrand A. -M., Bizzarri C., Bonfanti R., Bruel H., Burrows A., Cadario F., Cameron F. J., Carson D., Cartigny M., Cauvin V., Cave H., Chakera A., Chetan R., Chiari G., Couch B., Coutant R., Cummings E., Dankovcikova A., Davis L., Deiss D., Delvecchio M., Faleschini E., Fauret A. -L., Finn R., Ford T., Franco E. D., Gallen B. D., Gasperikova D., Guntamukkala P., Hakeem V., Hasegawa S., Hathout E. H., Heffernan E., Hill D., Ho J., Hoarau M., Holl R., Hoddinott R., Houghton J., Howard N., Hughes N., Hunter I., Hogasen A. K., Kuulasmaa H., Ioacara S., Iotova V., Irgens H., Jaap A., Jones K., Kapellen T., Kaufman E., Klinge A., Klupa T., Krishnaswamy R., Lafferty T., LeGault L., Lambert P., Malecki M. T., Malievsky O., Mathew R., Mathews F., McVie R., Menzel U., Metz C., Meulen J. V. D., Modgil G., Mul D., Muther S., Nuboer R., O'Connell S. M., O'Riordan S., Palko M., Patel K. A., Pesavento R., Piccinno E., Pillai J. K., Pruhova S., Punthakee Z., Rabbone I., Raile K., Rincon M., Rose D., Sanchez J., Sandereson S., Saxena V., Schebek M., Schmidt D., Shehadeh N., Shiels J. P. H., Silva J. M. C. L., Stanik J., Tinklin T., Tjora E., Tumini S., Tuomi T., Uehara A., Velde R. V. D., Vermeulen G., Visser U., Voorhoeve P., Walker J., Weill J., Weisner T., Werner A., Williams T., Woodhead H., oddegard R.

Background: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic control; however,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f16e117352924005dbe878db63ef663a
http://hdl.handle.net/11591/398639

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Autor: Allen, H.L., Flanagan, S.E., Shaw-Smith, C., Franco, E. De, Akerman, I., Caswell, R., Ferrer, J., Hattersley, A.T., Ellard, S., Aanstoot, H.J., Aberg, E., Adolfsson, P., Anthony, M., Batlle, M., Bruining, J, Bühr, P., Cummings, E., Edge, J., Garcia-Hurtado, J., Hathout, E., Ho, J., Jeffries, C., Temple, I.K., Kaufman, E., Kotori, V.M., Krijger, R. de, Kummer, M., Mackay, D., Mace, J., Noordam, C., O'Brien, F., Rubio-Cabezas, O., Shield, J., Skidmore, D., White, S., Zanier, U.

Publikováno v: Nature Genetics, 44, 1, pp. 20-2
Nature Genetics, 44, 20-2

Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f989bd681a94526bb868738e69f57e
https://doi.org/10.1038/ng.1035

Islet transplant: an option for childhood diabetes?

Autor: Hathout E, Lakey J, Shapiro J, Hathout, E, Lakey, J, Shapiro, J

Publikováno v: Archives of Disease in Childhood; Jul2003, Vol. 88 Issue 7, p591-594, 4p

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