-
1
-
-
0033860008
-
Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes
-
Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP: Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 49:1359-1366, 2000
-
(2000)
Diabetes
, vol.49
, pp. 1359-1366
-
-
Temple, I.K.1
Gardner, R.J.2
Mackay, D.J.3
Barber, J.C.4
Robinson, D.O.5
Shield, J.P.6
-
2
-
-
2342633204
-
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, Njolstad PR, Ashcroft FM, Hattersley AT: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 350:1838-1849, 2004
-
(2004)
N Engl J Med
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
Proks, P.4
Bruining, G.J.5
Slingerland, A.S.6
Howard, N.7
Srinivasan, S.8
Silva, J.M.9
Molnes, J.10
Edghill, E.L.11
Frayling, T.M.12
Temple, I.K.13
Mackay, D.14
Shield, J.P.15
Sumnik, Z.16
Van Rhijn, A.17
Wales, J.K.18
Clark, P.19
Gorman, S.20
Aisenberg, J.21
Ellard, S.22
Njolstad, P.R.23
Ashcroft, F.M.24
Hattersley, A.T.25
more..
-
3
-
-
0028972501
-
KATP: An inward rectifier subunit plus the sulfonylurea receptor
-
KATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 270:1166-1170, 1995
-
(1995)
Science
, vol.270
, pp. 1166-1170
-
-
Inagaki, N.1
Gonoi, T.2
Clement, J.P.3
Namba, N.4
Inazawa, J.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Seino, S.8
Bryan, J.9
-
4
-
-
0021741559
-
Glucose induces closure of single potassium channels in isolated rat pancreatic beta-cells
-
Ashcroft FM, Harrison DE, Ashcroft SJ: Glucose induces closure of single potassium channels in isolated rat pancreatic beta-cells. Nature 312:446-448, 1984
-
(1984)
Nature
, vol.312
, pp. 446-448
-
-
Ashcroft, F.M.1
Harrison, D.E.2
Ashcroft, S.J.3
-
6
-
-
0033760442
-
Triggering and amplifying pathways of regulation of insulin secretion by glucose
-
Henquin JC: Triggering and amplifying pathways of regulation of insulin secretion by glucose. Diabetes 49:1751-1760, 2000
-
(2000)
Diabetes
, vol.49
, pp. 1751-1760
-
-
Henquin, J.C.1
-
7
-
-
0042071600
-
Sulphonylurea action revisited: The post-cloning era
-
Gribble FM, Reimann F: Sulphonylurea action revisited: the post-cloning era. Diabetologia 46:875-891, 2003
-
(2003)
Diabetologia
, vol.46
, pp. 875-891
-
-
Gribble, F.M.1
Reimann, F.2
-
8
-
-
1842579441
-
Type 2 diabetes mellitus: Not quite exciting enough?
-
Ashcroft F, Rorsman P: Type 2 diabetes mellitus: not quite exciting enough? Hum Mol Genet 13:R21-R31, 2004
-
(2004)
Hum Mol Genet
, vol.13
-
-
Ashcroft, F.1
Rorsman, P.2
-
9
-
-
0037306308
-
Physiological and pathophysiological roles of ATP-sensitive K+ channels
-
Seino S, Miki T: Physiological and pathophysiological roles of ATP-sensitive K+ channels. Prog Biophys Mol Biol 81:133-176, 2003
-
(2003)
Prog Biophys Mol Biol
, vol.81
, pp. 133-176
-
-
Seino, S.1
Miki, T.2
-
10
-
-
0141532690
-
A novel glucose-sensing mechanism contributing to glucagon-like peptide-1 secretion from the GLUTag cell line
-
Gribble FM, Williams L, Simpson AK, Reimann F: A novel glucose-sensing mechanism contributing to glucagon-like peptide-1 secretion from the GLUTag cell line. Diabetes 52:1147-1154, 2003
-
(2003)
Diabetes
, vol.52
, pp. 1147-1154
-
-
Gribble, F.M.1
Williams, L.2
Simpson, A.K.3
Reimann, F.4
-
11
-
-
0036889440
-
ATP-sensitive potassium channels participate in glucose uptake in skeletal muscle and adipose tissue
-
Miki T, Minami K, Zhang L, Morita M, Gonoi T, Shiuchi T, Minokoshi Y, Renaud JM, Seino S: ATP-sensitive potassium channels participate in glucose uptake in skeletal muscle and adipose tissue. Am J Physiol Endocrinol Metab 283:E1178-E84, 2002
-
(2002)
Am J Physiol Endocrinol Metab
, vol.283
-
-
Miki, T.1
Minami, K.2
Zhang, L.3
Morita, M.4
Gonoi, T.5
Shiuchi, T.6
Minokoshi, Y.7
Renaud, J.M.8
Seino, S.9
-
12
-
-
0035042796
-
+ channels in the hypothalamus are essential for the maintenance of glucose homeostasis
-
+ channels in the hypothalamus are essential for the maintenance of glucose homeostasis. Nat Neurosci 4:507-512, 2001
-
(2001)
Nat Neurosci
, vol.4
, pp. 507-512
-
-
Miki, T.1
Liss, B.2
Minami, K.3
Shiuchi, T.4
Saraya, A.5
Kashima, Y.6
Horiuchi, M.7
Ashcroft, F.8
Minokoshi, Y.9
Roeper, J.10
Seino, S.11
-
13
-
-
0036789964
-
Kir6.2 is required for adaptation to stress
-
Zingman LV, Hodgson DM, Bast PH, Kane GC, Perez-Terzic C, Gumina RJ, Pucar D, Bienengraeber M, Dzeja PP, Miki T, Seino S, Alekseev AE, Terzic A: Kir6.2 is required for adaptation to stress. Proc Natl Acad Sci U S A 99:13278-13283, 2002
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 13278-13283
-
-
Zingman, L.V.1
Hodgson, D.M.2
Bast, P.H.3
Kane, G.C.4
Perez-Terzic, C.5
Gumina, R.J.6
Pucar, D.7
Bienengraeber, M.8
Dzeja, P.P.9
Miki, T.10
Seino, S.11
Alekseev, A.E.12
Terzic, A.13
-
14
-
-
0036179325
-
ATP channels in cardioprotection against ischemia/reperfusion injury in mice
-
ATP channels in cardioprotection against ischemia/reperfusion injury in mice. J Clin Invest 109:509-516, 2002
-
(2002)
J Clin Invest
, vol.109
, pp. 509-516
-
-
Suzuki, M.1
Sasaki, M.2
Miki, T.3
Sakamoto, N.4
Ohmoto-Sekine, Y.5
Tamagawa, M.6
Seino, S.7
Marbán, E.8
Nakaya, H.9
-
15
-
-
0036113748
-
Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1
-
Miki T, Suzuki M, Shibasaki T, Uemura H, Sato T, Yamaguchi K, Koseki H, Iwanaga T, Nakaya H, Seino S: Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. Nat Med 8:466-472, 2002
-
(2002)
Nat Med
, vol.8
, pp. 466-472
-
-
Miki, T.1
Suzuki, M.2
Shibasaki, T.3
Uemura, H.4
Sato, T.5
Yamaguchi, K.6
Koseki, H.7
Iwanaga, T.8
Nakaya, H.9
Seino, S.10
-
16
-
-
0033558137
-
ATP channels in dopaminergic midbrain neurons
-
ATP channels in dopaminergic midbrain neurons. EMBO J 18:833-846, 1999
-
(1999)
EMBO J
, vol.18
, pp. 833-846
-
-
Liss, B.1
Bruns, R.2
Roeper, J.3
-
18
-
-
0035947177
-
Protective role of ATP-sensitive potassium channels in hypoxia-induced generalized seizure
-
Yamada K, Ji JJ, Yuan H, Miki T, Sato S, Horimoto N, Shimizu T, Seino S, Inagaki N: Protective role of ATP-sensitive potassium channels in hypoxia-induced generalized seizure. Science 292:1543-1546, 2001
-
(2001)
Science
, vol.292
, pp. 1543-1546
-
-
Yamada, K.1
Ji, J.J.2
Yuan, H.3
Miki, T.4
Sato, S.5
Horimoto, N.6
Shimizu, T.7
Seino, S.8
Inagaki, N.9
-
19
-
-
0035853122
-
Mice transgenically overexpressing sulfonylurea receptor 1 in forebrain resist seizure induction and excitotoxic neuron death
-
Hernandez-Sanchez C, Basile AS, Fedorova I, Arima H, Stannard B, Fernandez AM, Ito Y, LeRoith D: Mice transgenically overexpressing sulfonylurea receptor 1 in forebrain resist seizure induction and excitotoxic neuron death. Proc Natl Acad Sci U S A 98:3549-3554, 2001
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 3549-3554
-
-
Hernandez-Sanchez, C.1
Basile, A.S.2
Fedorova, I.3
Arima, H.4
Stannard, B.5
Fernandez, A.M.6
Ito, Y.7
LeRoith, D.8
-
20
-
-
0026012160
-
Separate processes mediate nucleotide-induced inhibition and stimulation of the ATP-regulated K(+)-channels in mouse pancreatic beta-cells
-
Bokvist K, Ammala C, Ashcroft FM, Berggren PO, Larsson O, Rorsman P: Separate processes mediate nucleotide-induced inhibition and stimulation of the ATP-regulated K(+)-channels in mouse pancreatic beta-cells. Proc Biol Sci 243:139-144, 1991
-
(1991)
Proc Biol Sci
, vol.243
, pp. 139-144
-
-
Bokvist, K.1
Ammala, C.2
Ashcroft, F.M.3
Berggren, P.O.4
Larsson, O.5
Rorsman, P.6
-
21
-
-
0030609143
-
Octameric stoichiometry of the KATP channel complex
-
Shyng SL, Nichols CG: Octameric stoichiometry of the KATP channel complex. J Gen Physiol 110:655-664, 1997
-
(1997)
J Gen Physiol
, vol.110
, pp. 655-664
-
-
Shyng, S.L.1
Nichols, C.G.2
-
23
-
-
0030016913
-
Adenosine diphosphate as an intracellular regulator of insulin secretion
-
Nichols CG, Shyng SL, Newtorowicz A, Glaser B, IV JPC, Gonzalez G, Aguilar-Bryan L, Permutt MA, Bryan J: Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 272:1785-1787, 1996
-
(1996)
Science
, vol.272
, pp. 1785-1787
-
-
Nichols, C.G.1
Shyng, S.L.2
Newtorowicz, A.3
Glaser IV, B.4
Gonzalez, G.5
Aguilar-Bryan, L.6
Permutt, M.A.7
Bryan, J.8
-
24
-
-
0034677634
-
Targeted overactivity of beta cell K(ATP) channels induces profound neonatal diabetes
-
Koster JC, Marshall BA, Ensor N, Corbett JA, Nichols CG: Targeted overactivity of beta cell K(ATP) channels induces profound neonatal diabetes. Cell 100:645-654, 2000
-
(2000)
Cell
, vol.100
, pp. 645-654
-
-
Koster, J.C.1
Marshall, B.A.2
Ensor, N.3
Corbett, J.A.4
Nichols, C.G.5
-
25
-
-
0030671407
-
Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel
-
Miki T, Tashiro F, Iwanaga T, Nagashima K, Yoshitomi H, Aihara H, Nitta Y, Gonoi T, Inagaki N, Miyazaki J, Seino S: Abnormalities of pancreatic islets by targeted expression of a dominant-negative KATP channel. Proc Natl Acad Sci U S A 94:11969-11973, 1997
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 11969-11973
-
-
Miki, T.1
Tashiro, F.2
Iwanaga, T.3
Nagashima, K.4
Yoshitomi, H.5
Aihara, H.6
Nitta, Y.7
Gonoi, T.8
Inagaki, N.9
Miyazaki, J.10
Seino, S.11
-
26
-
-
0141630107
-
Defective insulin secretion and enhanced insulin action in KATP channel-deficient mice
-
Miki T, Nagashima K, Tashiro F, Kotake K, Yoshitomi H, Tamamoto A, Gonoi T, Iwanaga T, Miyazaki J, Seino S: Defective insulin secretion and enhanced insulin action in KATP channel-deficient mice. Proc Natl Acad Sci U S A 95:10402-10406, 1998
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 10402-10406
-
-
Miki, T.1
Nagashima, K.2
Tashiro, F.3
Kotake, K.4
Yoshitomi, H.5
Tamamoto, A.6
Gonoi, T.7
Iwanaga, T.8
Miyazaki, J.9
Seino, S.10
-
27
-
-
0347359228
-
Hyperinsulinism in infancy: From basic science to clinical disease
-
Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ: Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 84:239-275, 2004
-
(2004)
Physiol Rev
, vol.84
, pp. 239-275
-
-
Dunne, M.J.1
Cosgrove, K.E.2
Shepherd, R.M.3
Aynsley-Green, A.4
Lindley, K.J.5
-
28
-
-
0037464795
-
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for the sulphonlyurea receptor 1
-
Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft F, Laakso M: A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for the sulphonlyurea receptor 1. Lancet 361:301-307, 2003
-
(2003)
Lancet
, vol.361
, pp. 301-307
-
-
Huopio, H.1
Otonkoski, T.2
Vauhkonen, I.3
Reimann, F.4
Ashcroft, F.5
Laakso, M.6
-
30
-
-
0242384237
-
Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
-
Gloyn AL: Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 22:353-362, 2003
-
(2003)
Hum Mutat
, vol.22
, pp. 353-362
-
-
Gloyn, A.L.1
-
31
-
-
4243062602
-
Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action
-
Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW, Clayton D, Schafer AJ, O'Rahilly S, Wareham NJ: Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS Biol 1:E20, 2003
-
(2003)
PLoS Biol
, vol.1
-
-
Barroso, I.1
Luan, J.2
Middelberg, R.P.3
Harding, A.H.4
Franks, P.W.5
Jakes, R.W.6
Clayton, D.7
Schafer, A.J.8
O'Rahilly, S.9
Wareham, N.J.10
-
32
-
-
2342561802
-
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
-
Florez J, Burtt N, de Bakker P, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson T, Schaffner S, Daly M, Hirschhorn J, Groop L, Altshuler D: Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 53:1360-1368, 2004
-
(2004)
Diabetes
, vol.53
, pp. 1360-1368
-
-
Florez, J.1
Burtt, N.2
De Bakker, P.3
Almgren, P.4
Tuomi, T.5
Holmkvist, J.6
Gaudet, D.7
Hudson, T.8
Schaffner, S.9
Daly, M.10
Hirschhorn, J.11
Groop, L.12
Altshuler, D.13
-
33
-
-
0037317981
-
Large-scale association studies of variants in genes encoding the pancreatic β-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 ABCC8 confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
-
Gloyn AL, Weedon MN, Owen K, Turner MJ, Knight BA, Hitman GA, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM: Large-scale association studies of variants in genes encoding the pancreatic β-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 52:568-572, 2003
-
(2003)
Diabetes
, vol.52
, pp. 568-572
-
-
Gloyn, A.L.1
Weedon, M.N.2
Owen, K.3
Turner, M.J.4
Knight, B.A.5
Hitman, G.A.6
Walker, M.7
Levy, J.C.8
Sampson, M.9
Halford, S.10
McCarthy, M.I.11
Hattersley, A.T.12
Frayling, T.M.13
-
34
-
-
7044269434
-
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years
-
Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EA, Hattersley AT: Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. Diabetes 53:2998-3001, 2004
-
(2004)
Diabetes
, vol.53
, pp. 2998-3001
-
-
Edghill, E.L.1
Gloyn, A.L.2
Gillespie, K.M.3
Lambert, A.P.4
Raymond, N.T.5
Swift, P.G.6
Ellard, S.7
Gale, E.A.8
Hattersley, A.T.9
-
35
-
-
4043088022
-
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: 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. J Clin Endocrinol Metab 89:3932-3935, 2004
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3932-3935
-
-
Gloyn, A.L.1
Cummings, E.A.2
Edghill, E.L.3
Harries, L.W.4
Scott, R.5
Costa, T.6
Temple, I.K.7
Hattersley, A.T.8
Ellard, S.9
-
36
-
-
19944427182
-
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
-
Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crino A, Lorini R, Cerutti F, Vanelli M, Barbetti F, the Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology: KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 25:22-27, 2005
-
(2005)
Hum Mutat
, vol.25
, pp. 22-27
-
-
Massa, O.1
Iafusco, D.2
D'Amato, E.3
Gloyn, A.L.4
Hattersley, A.T.5
Pasquino, B.6
Tonini, G.7
Dammacco, F.8
Zanette, G.9
Meschi, F.10
Porzio, O.11
Bottazzo, G.12
Crino, A.13
Lorini, R.14
Cerutti, F.15
Vanelli, M.16
Barbetti, F.17
-
37
-
-
4644260056
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: Patient characteristics and initial response to sulfonylurea therapy
-
Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell G, Gloyn AL, Hattersley AT, Molven A, Sovik O, Njolstad PR: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53:2713-2718, 2004
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
Raeder, H.2
Hathout, E.3
Shehadeh, N.4
Gudmundsson, K.5
Baevre, H.6
Abuelo, D.7
Phornphutkul, C.8
Molnes, J.9
Bell, G.10
Gloyn, A.L.11
Hattersley, A.T.12
Molven, A.13
Sovik, O.14
Njolstad, P.R.15
-
38
-
-
8744262895
-
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2
-
Zung A, Glaser B, Nimri R, Zadik Z: Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J Clin Endocrinol Metab 89:5504-5507, 2004
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5504-5507
-
-
Zung, A.1
Glaser, B.2
Nimri, R.3
Zadik, Z.4
-
39
-
-
4644309915
-
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
-
Vaxillaire M, Populaire C, Buisiah K, Cave H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 53:2719-2722, 2004
-
(2004)
Diabetes
, vol.53
, pp. 2719-2722
-
-
Vaxillaire, M.1
Populaire, C.2
Buisiah, K.3
Cave, H.4
Gloyn, A.L.5
Hattersley, A.T.6
Czernichow, P.7
Froguel, P.8
Polak, M.9
-
40
-
-
14644408737
-
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation
-
Codner E, Flanagan S, Ellard S, Garcia H, Hattersley AT: High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care 28:758-759, 2005
-
(2005)
Diabetes Care
, vol.28
, pp. 758-759
-
-
Codner, E.1
Flanagan, S.2
Ellard, S.3
Garcia, H.4
Hattersley, A.T.5
-
41
-
-
20244368494
-
Relapsing diabetes can result from moderately activating mutations in KCNJ11
-
Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT: Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 14:925-934, 2005
-
(2005)
Hum Mol Genet
, vol.14
, pp. 925-934
-
-
Gloyn, A.L.1
Reimann, F.2
Girard, C.3
Edghill, E.L.4
Proks, P.5
Pearson, E.R.6
Temple, I.K.7
Mackay, D.J.8
Shield, J.P.9
Freedenberg, D.10
Noyes, K.11
Ellard, S.12
Ashcroft, F.M.13
Gribble, F.M.14
Hattersley, A.T.15
-
42
-
-
23644443560
-
Early epileptic encephalopathy and neonatal diabetes, associated with mutation in ATP-sensitive potassium channel
-
Nahi-Buisson N, Bellanne-Chantelot C, Eisermann M, Nabbout R, Bach N, Nivot S, Plouin P, Robert JJ, de Lonlay P: Early epileptic encephalopathy and neonatal diabetes, associated with mutation in ATP-sensitive potassium channel. Am J Hum Genet Suppl 1:323, 2004
-
(2004)
Am J Hum Genet Suppl
, vol.1
, pp. 323
-
-
Nahi-Buisson, N.1
Bellanne-Chantelot, C.2
Eisermann, M.3
Nabbout, R.4
Bach, N.5
Nivot, S.6
Plouin, P.7
Robert, J.J.8
De Lonlay, P.9
-
43
-
-
20044387060
-
The identification of a R201H mutation in KCNJ11 which encodes Kir6.2, and successful transfer to sustained release sulphonylurea therapy in a subject with neonatal diabetes: Evidence for heterogeneity of beta-cell function among carriers of the R201H mutation
-
Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT: The identification of a R201H mutation in KCNJ11 which encodes Kir6.2, and successful transfer to sustained release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta-cell function among carriers of the R201H mutation. Diabetologia 48:1029-1031, 2005
-
(2005)
Diabetologia
, vol.48
, pp. 1029-1031
-
-
Klupa, T.1
Edghill, E.L.2
Nazim, J.3
Sieradzki, J.4
Ellard, S.5
Hattersley, A.T.6
Malecki, M.T.7
-
44
-
-
21244487124
-
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus
-
Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T: The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab 90:E3174-E3178, 2005
-
(2005)
J Clin Endocrinol Metab
, vol.90
-
-
Yorifuji, T.1
Nagashima, K.2
Kurokawa, K.3
Kawai, M.4
Oishi, M.5
Akazawa, Y.6
Hosokawa, M.7
Yamada, Y.8
Inagaki, N.9
Nakahata, T.10
-
45
-
-
3042637568
-
Permanent diabetes mellitus in the first year of life
-
Iafusco D, Stazi MA, Cotichini R, Cotellessa M, Martinucci ME, Mazzella M, Cherubini V, Barbetti F, Martinetti M, Cerutti F, Prisco F: Permanent diabetes mellitus in the first year of life. Diabetologia 45:798-804, 2002
-
(2002)
Diabetologia
, vol.45
, pp. 798-804
-
-
Iafusco, D.1
Stazi, M.A.2
Cotichini, R.3
Cotellessa, M.4
Martinucci, M.E.5
Mazzella, M.6
Cherubini, V.7
Barbetti, F.8
Martinetti, M.9
Cerutti, F.10
Prisco, F.11
-
46
-
-
10744222821
-
Permanent neonatal diabetes due to glucokinase deficiency: An inborn error of glucose-insulin signalling pathway
-
Njolstad PR, Sagen JV, Bjorkhaug L, Odili S, Shehadeh N, Bakry D, S Umit S, Molnes J, Molven A, Sovik O, Matschinsky F: Permanent neonatal diabetes due to glucokinase deficiency: an inborn error of glucose-insulin signalling pathway. Diabetes 52:2854-2860, 2003
-
(2003)
Diabetes
, vol.52
, pp. 2854-2860
-
-
Njolstad, P.R.1
Sagen, J.V.2
Bjorkhaug, L.3
Odili, S.4
Shehadeh, N.5
Bakry, D.6
Umit, S.7
Molnes, J.8
Molven, A.9
Sovik, O.10
Matschinsky, F.11
-
47
-
-
0031031571
-
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
-
Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF: Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 15:106-110, 1997
-
(1997)
Nat Genet
, vol.15
, pp. 106-110
-
-
Stoffers, D.A.1
Zinkin, N.T.2
Stanojevic, V.3
Clarke, W.L.4
Habener, J.F.5
-
48
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 27:18-20, 2001
-
(2001)
Nat Genet
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
Ramsdell, F.2
Peake, J.3
Faravelli, F.4
Casanova, J.L.5
Buist, N.6
Levy-Lahad, E.7
Mazzella, M.8
Goulet, O.9
Perroni, L.10
Bricarelli, F.D.11
Byrne, G.12
McEuen, M.13
Proll, S.14
Appleby, M.15
Brunkow, M.E.16
-
49
-
-
0032128288
-
Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein
-
Stoffers DA, Stanojevic V, Habener JF: Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. J Clin Invest 102:232-241, 1998
-
(1998)
J Clin Invest
, vol.102
, pp. 232-241
-
-
Stoffers, D.A.1
Stanojevic, V.2
Habener, J.F.3
-
50
-
-
20044389281
-
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
-
Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom SP, Ashcroft FM: A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 6:470-475, 2005
-
(2005)
EMBO Rep
, vol.6
, pp. 470-475
-
-
Proks, P.1
Girard, C.2
Haider, S.3
Gloyn, A.L.4
Hattersley, A.T.5
Sansom, S.P.6
Ashcroft, F.M.7
-
51
-
-
0038691467
-
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1α mutations: Evidence for parent-of-origin effect
-
Klupa T, Warram JH, Antonellis A, Pezzolesi M, Nam M, Malecki MT, Doria A, Rich SS, Krolewski AS: Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1α mutations: evidence for parent-of-origin effect. Diabetes Care 25:2292-2301, 2002
-
(2002)
Diabetes Care
, vol.25
, pp. 2292-2301
-
-
Klupa, T.1
Warram, J.H.2
Antonellis, A.3
Pezzolesi, M.4
Nam, M.5
Malecki, M.T.6
Doria, A.7
Rich, S.S.8
Krolewski, A.S.9
-
52
-
-
8344272048
-
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β
-
Bingham C, Hattersley AT: Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β. Nephrol Dial Transplant 19:2703-2708, 2004
-
(2004)
Nephrol Dial Transplant
, vol.19
, pp. 2703-2708
-
-
Bingham, C.1
Hattersley, A.T.2
-
53
-
-
13444274375
-
Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit
-
Antcliff JF, Haider S, Proks P, Sansom MS, Ashcroft FM: Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit. EMBO J 24:229-239, 2005
-
(2005)
EMBO J
, vol.24
, pp. 229-239
-
-
Antcliff, J.F.1
Haider, S.2
Proks, P.3
Sansom, M.S.4
Ashcroft, F.M.5
-
54
-
-
0344466801
-
Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor
-
Reimann F, Tucker SJ, Proks P, Ashcroft FM: Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor. J Physiol 518:325-336, 1999
-
(1999)
J Physiol
, vol.518
, pp. 325-336
-
-
Reimann, F.1
Tucker, S.J.2
Proks, P.3
Ashcroft, F.M.4
-
55
-
-
0037113899
-
SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide: Defining intersubunit gating interactions
-
Babenko AP, Bryan J: SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide: defining intersubunit gating interactions. J Biol Chem 277:43997-44004, 2002
-
(2002)
J Biol Chem
, vol.277
, pp. 43997-44004
-
-
Babenko, A.P.1
Bryan, J.2
-
56
-
-
12444274301
-
Crystal structure of the potassium channel KirBac1.1 in the closed state
-
Kuo A, Gulbis JM, Antcliff JF, Rahman T, Lowe ED, Zimmer J, Cuthbertson J, Ashcroft FM, Ezaki T, Doyle DA: Crystal structure of the potassium channel KirBac1.1 in the closed state. Science 300:1922-1926, 2003
-
(2003)
Science
, vol.300
, pp. 1922-1926
-
-
Kuo, A.1
Gulbis, J.M.2
Antcliff, J.F.3
Rahman, T.4
Lowe, E.D.5
Zimmer, J.6
Cuthbertson, J.7
Ashcroft, F.M.8
Ezaki, T.9
Doyle, D.A.10
-
57
-
-
0032478818
-
The structure of the potassium channel: Molecular basis of K+ conduction and selectivity
-
Doyle DA, Morais Cabral J, Pfuetzner RA, Kuo A, Gulbis JM, Cohen SL, Chait BT, MacKinnon R: The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science 280:69-77, 1998
-
(1998)
Science
, vol.280
, pp. 69-77
-
-
Doyle, D.A.1
Morais Cabral, J.2
Pfuetzner, R.A.3
Kuo, A.4
Gulbis, J.M.5
Cohen, S.L.6
Chait, B.T.7
MacKinnon, R.8
-
58
-
-
14544298750
-
Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification
-
Pegan S, Arrabit C, Zhou W, Kwiatkowski W, Collins A, Slesinger PA, Choe S: Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification. Nat Neurosci 8:279-287, 2005
-
(2005)
Nat Neurosci
, vol.8
, pp. 279-287
-
-
Pegan, S.1
Arrabit, C.2
Zhou, W.3
Kwiatkowski, W.4
Collins, A.5
Slesinger, P.A.6
Choe, S.7
-
59
-
-
10644233000
-
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features
-
Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM: Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A 101:17539-17544, 2004
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 17539-17544
-
-
Proks, P.1
Antcliff, J.F.2
Lippiat, J.3
Gloyn, A.L.4
Hattersley, A.T.5
Ashcroft, F.M.6
-
60
-
-
22744438517
-
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions
-
Tammaro P, Girard C, Molnes J, Njølstad PR, Ashcroft FM: Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J 24:2318-2330, 2005
-
(2005)
EMBO J
, vol.24
, pp. 2318-2330
-
-
Tammaro, P.1
Girard, C.2
Molnes, J.3
Njølstad, P.R.4
Ashcroft, F.M.5
-
61
-
-
0031713173
-
Molecular analysis of ATP-sensitive K channel gating and implications for channel inhibition by ATP
-
Trapp S, Proks P, Tucker SJ, Ashcroft FM: Molecular analysis of ATP-sensitive K channel gating and implications for channel inhibition by ATP. J Gen Physiol 112:333-349, 1998
-
(1998)
J Gen Physiol
, vol.112
, pp. 333-349
-
-
Trapp, S.1
Proks, P.2
Tucker, S.J.3
Ashcroft, F.M.4
-
62
-
-
0033624291
-
ATP4- Mediates closure of pancreatic β-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites
-
Markworth E, Schwanstecher C, Schwanstecher M: ATP4- mediates closure of pancreatic β-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites. Diabetes 49:1413-1418, 2000
-
(2000)
Diabetes
, vol.49
, pp. 1413-1418
-
-
Markworth, E.1
Schwanstecher, C.2
Schwanstecher, M.3
-
63
-
-
0029740428
-
Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: No association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro
-
Sakura H, Wat N, Horton V, Millns H, Turner RC, Ashcroft FM: Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro. Diabetologia 39:1233-1236, 1996
-
(1996)
Diabetologia
, vol.39
, pp. 1233-1236
-
-
Sakura, H.1
Wat, N.2
Horton, V.3
Millns, H.4
Turner, R.C.5
Ashcroft, F.M.6
-
65
-
-
17844377908
-
Single nucleotide polymorphisms in KATP channels: Muscular impact on type 2 diabetes
-
Li L, Shi Y, Wang X, Shi W, Jiang C: Single nucleotide polymorphisms in KATP channels: muscular impact on type 2 diabetes. Diabetes 54:1592-1597, 2005
-
(2005)
Diabetes
, vol.54
, pp. 1592-1597
-
-
Li, L.1
Shi, Y.2
Wang, X.3
Shi, W.4
Jiang, C.5
-
66
-
-
0141643279
-
Kir6.2 polymorphisms sensitize β-cell ATP-sensitive potassium channels to activation by acyl CoAs: A possible cellular mechanism for increased susceptibility to type 2 diabetes?
-
Riedel MJ, Boora P, Steckley D, de Vries G, Light PE: Kir6.2 polymorphisms sensitize β-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes? Diabetes 52:2630-2635, 2003
-
(2003)
Diabetes
, vol.52
, pp. 2630-2635
-
-
Riedel, M.J.1
Boora, P.2
Steckley, D.3
De Vries, G.4
Light, P.E.5
-
67
-
-
0036895578
-
The common single nucleotide polymorphism E23K in K(IR)6.2 sensitizes pancreatic β-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates
-
Schwanstecher C, Neugebauer B, Schulz M, Schwanstecher M: The common single nucleotide polymorphism E23K in K(IR)6.2 sensitizes pancreatic β-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates. Diabetes 51:8363-7, 2002
-
(2002)
Diabetes
, vol.51
, pp. 8363-8367
-
-
Schwanstecher, C.1
Neugebauer, B.2
Schulz, M.3
Schwanstecher, M.4
-
68
-
-
0037312864
-
The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes
-
Nielsen EM, Hansen L, Carstensen B, Echwald SM, Drivsholm T, Glumer C, Thorsteinsson B, Borch-Johnsen K, Hansen T, Pedersen O: The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 52:573-577, 2003
-
(2003)
Diabetes
, vol.52
, pp. 573-577
-
-
Nielsen, E.M.1
Hansen, L.2
Carstensen, B.3
Echwald, S.M.4
Drivsholm, T.5
Glumer, C.6
Thorsteinsson, B.7
Borch-Johnsen, K.8
Hansen, T.9
Pedersen, O.10
-
70
-
-
0036724723
-
The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia
-
Tschritter O, Stumvoll M, Machicao F, Holzwarth M, Weisser M, Maerker E, Teigeler A, Haring H, Fritsche A: The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia. Diabetes 51:2854-2860, 2002
-
(2002)
Diabetes
, vol.51
, pp. 2854-2860
-
-
Tschritter, O.1
Stumvoll, M.2
Machicao, F.3
Holzwarth, M.4
Weisser, M.5
Maerker, E.6
Teigeler, A.7
Haring, H.8
Fritsche, A.9
-
71
-
-
0043073175
-
Quantitative traits associated with the type 2 diabetes susceptibility allele in Kir6.2
-
Weedon MN, Gloyn AL, Frayling TM, Hattersley AT, Davey Smith G, Ben-Shlomo Y: Quantitative traits associated with the type 2 diabetes susceptibility allele in Kir6.2. Diabetologia 46:1021-1023, 2003
-
(2003)
Diabetologia
, vol.46
, pp. 1021-1023
-
-
Weedon, M.N.1
Gloyn, A.L.2
Frayling, T.M.3
Hattersley, A.T.4
Davey Smith, G.5
Ben-Shlomo, Y.6
|