-
2
-
-
33751286297
-
Molecular mechanisms of neonatal hyperinsulinism
-
Giurgea I, Bellanne-Chantelot C, Ribeiro M et al. Molecular mechanisms of neonatal hyperinsulinism. Horm Res 2006: 66: 289-296.
-
(2006)
Horm Res
, vol.66
, pp. 289-296
-
-
Giurgea, I.1
Bellanne-Chantelot, C.2
Ribeiro, M.3
-
3
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas PM, Cote GJ, Wolhllk N et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995: 268: 426-429.
-
(1995)
Science
, vol.268
, pp. 426-429
-
-
Thomas, P.M.1
Cote, G.J.2
Wolhllk, N.3
-
4
-
-
0029836983
-
Mutation of the pancreatic islet inward rectifier KIR6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.
-
Thomas P, Ye Y, Lightner E. Mutation of the pancreatic islet inward rectifier KIR6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 1996: 5: 1809-1812.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1809-1812
-
-
Thomas, P.1
Ye, Y.2
Lightner, E.3
-
5
-
-
0031802399
-
Genetic heterogeneity in familial hyperinsulinism
-
Nestorowicz A, Glaser B, Wilson BA et al. Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet 1998: 7: 1119-1128.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1119-1128
-
-
Nestorowicz, A.1
Glaser, B.2
Wilson, B.A.3
-
6
-
-
0031799545
-
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
-
Shyng SL, Ferrigni T, Shepard JB et al. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 1998: 47: 1145-1151.
-
(1998)
Diabetes
, vol.47
, pp. 1145-1151
-
-
Shyng, S.L.1
Ferrigni, T.2
Shepard, J.B.3
-
7
-
-
0035956875
-
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy
-
98
-
Cartier EA, Conti LR, Vandenberg CA, Shyng SL. Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. Proc Natl Acad Sci USA 2001: 98: 2882-2887.
-
Proc Natl Acad Sci USA
, vol.2001
, pp. 2882-2887
-
-
Cartier, E.A.1
Conti, L.R.2
Vandenberg, C.A.3
Shyng, S.L.4
-
8
-
-
0033803049
-
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1
-
Huopio H, Reimann F, Ashfield R et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000: 106: 897-906.
-
(2000)
J Clin Invest
, vol.106
, pp. 897-906
-
-
Huopio, H.1
Reimann, F.2
Ashfield, R.3
-
9
-
-
0037464795
-
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1
-
Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 2003: 361: 301-307.
-
(2003)
Lancet
, vol.361
, pp. 301-307
-
-
Huopio, H.1
Otonkoski, T.2
Vauhkonen, I.3
Reimann, F.4
Ashcroft, F.M.5
Laakso, M.6
-
10
-
-
48249102392
-
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence
-
Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S et al. Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. Diabetes 2008: 57: 1935-1940.
-
(2008)
Diabetes
, vol.57
, pp. 1935-1940
-
-
Abdulhadi-Atwan, M.1
Bushman, J.2
Tornovsky-Babaey, S.3
-
11
-
-
48649093189
-
Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene
-
Gussinyer M, Clemente M, Cebrian R, Yeste D, Albisu M, Carrascosa A. Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. Diabetes Care 2008: 31: 1257-1259.
-
(2008)
Diabetes Care
, vol.31
, pp. 1257-1259
-
-
Gussinyer, M.1
Clemente, M.2
Cebrian, R.3
Yeste, D.4
Albisu, M.5
Carrascosa, A.6
-
12
-
-
48749109863
-
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
-
Pinney SE, MacMullen C, Becker S et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 2008: 118: 2877-2886.
-
(2008)
J Clin Invest
, vol.118
, pp. 2877-2886
-
-
Pinney, S.E.1
MacMullen, C.2
Becker, S.3
-
13
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
Babenko AP, Polak M, Cave H et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006: 355: 456-466.
-
(2006)
N Engl J Med
, vol.355
, pp. 456-466
-
-
Babenko, A.P.1
Polak, M.2
Cave, H.3
-
14
-
-
34347387276
-
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
-
Flanagan SE, Patch AM, Mackay DJ et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007: 56: 1930-1937.
-
(2007)
Diabetes
, vol.56
, pp. 1930-1937
-
-
Flanagan, S.E.1
Patch, A.M.2
Mackay, D.J.3
-
15
-
-
34249658527
-
New ABCC8 mutations in relapsing neonatal diabetes and clinical features
-
SUR1-Neonatal Diabetes Study Group
-
Vaxillaire M, Dechaume A, Busiah K et al. SUR1-Neonatal Diabetes Study Group. New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Diabetes 2007: 56: 1737-1741.
-
(2007)
Diabetes
, vol.56
, pp. 1737-1741
-
-
Vaxillaire, M.1
Dechaume, A.2
Busiah, K.3
-
16
-
-
0033853921
-
Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy
-
Kassem SA, Ariel I, Thornton PS, Scheimberg I, Glaser B. Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy. Diabetes 2000: 49: 1325-1333.
-
(2000)
Diabetes
, vol.49
, pp. 1325-1333
-
-
Kassem, S.A.1
Ariel, I.2
Thornton, P.S.3
Scheimberg, I.4
Glaser, B.5
-
17
-
-
0032509446
-
Glucose and tolbutamide induce apoptosis in pancreatic beta-cells. A process dependent on intracellular Ca2+ concentration.
-
Efanova IB, Zaitsev SV, Zhivotovsky B et al. Glucose and tolbutamide induce apoptosis in pancreatic beta-cells. A process dependent on intracellular Ca2+ concentration. J Biol Chem 1998: 273: 33501-33507.
-
(1998)
J Biol Chem
, vol.273
, pp. 33501-33507
-
-
Efanova, I.B.1
Zaitsev, S.V.2
Zhivotovsky, B.3
-
18
-
-
0029658788
-
Loss of functional KATP channels in pancreatic B-cells causes persistent hyperinslinemic hypoglycemia of infancy
-
Kane C, Shepherd RM, Squires PE et al. Loss of functional KATP channels in pancreatic B-cells causes persistent hyperinslinemic hypoglycemia of infancy. Nat Med 1996: 2: 1344-1347.
-
(1996)
Nat Med
, vol.2
, pp. 1344-1347
-
-
Kane, C.1
Shepherd, R.M.2
Squires, P.E.3
-
19
-
-
70449336777
-
Suppression of the KATP channel activity protects murine pancreatic B cells against oxidative stress
-
[Epub ahead of print].DOI: 10.1172/JCI38817.
-
Gier B, Krippeit-Drews P, Sheiko T et al. Suppression of the KATP channel activity protects murine pancreatic B cells against oxidative stress. J Clin Invest 2009. [Epub ahead of print]. DOI: 10.1172/JCI38817.
-
(2009)
J Clin Invest
-
-
Gier, B.1
Krippeit-Drews, P.2
Sheiko, T.3
|