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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. Gloyn AL, et al. Among authors: ellard s. N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922. N Engl J Med. 2004. PMID: 15115830 Free article.
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S. Gloyn AL, et al. Among authors: ellard s. J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5. doi: 10.1210/jc.2004-0568. J Clin Endocrinol Metab. 2004. PMID: 15292329
Permanent neonatal diabetes in an Asian infant.
Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL. Porter JR, et al. Among authors: ellard s. J Pediatr. 2005 Jan;146(1):131-3. doi: 10.1016/j.jpeds.2004.09.008. J Pediatr. 2005. PMID: 15644838 Review.
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM. Gloyn AL, et al. Among authors: ellard s. J Biol Chem. 2005 Apr 8;280(14):14105-13. doi: 10.1074/jbc.M413146200. Epub 2005 Jan 25. J Biol Chem. 2005. PMID: 15677479 Free article.
681 results