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Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.
Battaglia D, Lin YW, Brogna C, Crinò A, Grasso V, Mozzi AF, Russo L, Spera S, Colombo C, Ricci S, Nichols CG, Mercuri E, Barbetti F. Battaglia D, et al. Among authors: nichols cg. Pediatr Diabetes. 2012 Dec;13(8):656-60. doi: 10.1111/j.1399-5448.2012.00874.x. Epub 2012 Jun 14. Pediatr Diabetes. 2012. PMID: 22694282 Free PMC article.
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG. Loechner KJ, et al. Among authors: nichols cg. Diabetes. 2011 Jan;60(1):209-17. doi: 10.2337/db10-0731. Epub 2010 Oct 27. Diabetes. 2011. PMID: 20980454 Free PMC article.
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.
Iafusco D, Massa O, Pasquino B, Colombo C, Iughetti L, Bizzarri C, Mammì C, Lo Presti D, Suprani T, Schiaffini R, Nichols CG, Russo L, Grasso V, Meschi F, Bonfanti R, Brescianini S, Barbetti F; Early Diabetes Study Group of ISPED. Iafusco D, et al. Among authors: nichols cg. Acta Diabetol. 2012 Oct;49(5):405-8. doi: 10.1007/s00592-011-0331-8. Epub 2011 Sep 28. Acta Diabetol. 2012. PMID: 21953423 Free PMC article.
Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.
Lin YW, Li A, Grasso V, Battaglia D, Crinò A, Colombo C, Barbetti F, Nichols CG. Lin YW, et al. Among authors: nichols cg. PLoS One. 2013 May 7;8(5):e63758. doi: 10.1371/journal.pone.0063758. Print 2013. PLoS One. 2013. PMID: 23667671 Free PMC article.
311 results