-
2
-
-
23344439106
-
Neonatal diabetes mellitus: From understudy to center stage
-
Sperling MA. Neonatal diabetes mellitus: from understudy to center stage. Curr Opin Pediatr 2005;17:512-518
-
(2005)
Curr Opin Pediatr
, vol.17
, pp. 512-518
-
-
Sperling, M.A.1
-
3
-
-
0032718689
-
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus
-
Hani EH, Stoffers DA, Chevre JC, Durand E, Stanojevic V, Dina C, Habener JF, Froguel P. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999;104:R41-R48
-
(1999)
J Clin Invest
, vol.104
-
-
Hani, E.H.1
Stoffers, D.A.2
Chevre, J.C.3
Durand, E.4
Stanojevic, V.5
Dina, C.6
Habener, J.F.7
Froguel, P.8
-
4
-
-
33746686369
-
Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations
-
for the Neonatal Diabetes International Collaborative Group
-
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT, for the Neonatal Diabetes International Collaborative Group. Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations. N Engl J Med 2006;355:467-477
-
(2006)
N Engl J Med
, vol.355
, pp. 467-477
-
-
Pearson, E.R.1
Flechtner, I.2
Njølstad, P.R.3
Malecki, M.T.4
Flanagan, S.E.5
Larkin, B.6
Ashcroft, F.M.7
Klimes, I.8
Codner, E.9
Iotova, V.10
Slingerland, A.S.11
Shield, J.12
Robert, J.J.13
Holst, J.J.14
Clark, P.M.15
Ellard, S.16
Søvik, O.17
Polak, M.18
Hattersley, A.T.19
-
5
-
-
0035960122
-
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
-
Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001;345:971-980
-
(2001)
N Engl J Med
, vol.345
, pp. 971-980
-
-
Fajans, S.S.1
Bell, G.I.2
Polonsky, K.S.3
-
6
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001;344:1588-1592
-
(2001)
N Engl J Med
, vol.344
, pp. 1588-1592
-
-
Njolstad, P.R.1
Sovik, O.2
Cuesta-Munoz, A.3
Bjorkhaug, L.4
Massa, O.5
Barbetti, F.6
Undlien, D.E.7
Shiota, C.8
Magnuson, M.A.9
Molven, A.10
Matschinsky, F.M.11
Bell, G.I.12
-
7
-
-
11844250571
-
Permanent neonatal diabetes in an Asian infant
-
Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL. Permanent neonatal diabetes in an Asian infant. J Pediatr 2005;146:131-133
-
(2005)
J Pediatr
, vol.146
, pp. 131-133
-
-
Porter, J.R.1
Shaw, N.J.2
Barrett, T.G.3
Hattersley, A.T.4
Ellard, S.5
Gloyn, A.L.6
-
8
-
-
2942666206
-
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism
-
Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J Clin Endocrinol Metab 2004;89:2905-2908
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2905-2908
-
-
Yorifuji, T.1
Kurokawa, K.2
Mamada, M.3
Imai, T.4
Kawai, M.5
Nishi, Y.6
Shishido, S.7
Hasegawa, Y.8
Nakahata, T.9
-
9
-
-
4143059174
-
Wolcott-Rallison syndrome: A clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature
-
Iyer S, Korada M, Rainbow L, Kirk J, Brown RM, Shaw N, Barrett TG. Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. Acta Paediatr 2004;93:1195-1201
-
(2004)
Acta Paediatr
, vol.93
, pp. 1195-1201
-
-
Iyer, S.1
Korada, M.2
Rainbow, L.3
Kirk, J.4
Brown, R.M.5
Shaw, N.6
Barrett, T.G.7
-
10
-
-
0036346861
-
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
-
Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002;39:537-545
-
(2002)
J Med Genet
, vol.39
, pp. 537-545
-
-
Wildin, R.S.1
Smyk-Pearson, S.2
Filipovich, A.H.3
-
11
-
-
0038345163
-
A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes
-
Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N, Hara T. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. Immunogenetics 2003;55:149-156
-
(2003)
Immunogenetics
, vol.55
, pp. 149-156
-
-
Bassuny, W.M.1
Ihara, K.2
Sasaki, Y.3
Kuromaru, R.4
Kohno, H.5
Matsuura, N.6
Hara, T.7
-
12
-
-
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 2000;49:1359-1366
-
(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
-
13
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguliar-Bryan L, Vaxillaire M, Frogual P. 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
Busiah, K.4
Czernichow, P.5
Scharfmann, R.6
Bryan, J.7
Aguliar-Bryan, L.8
Vaxillaire, M.9
Frogual, P.10
-
14
-
-
4043117827
-
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus TNDM
-
Ma D, Shield JP, Dean W, Ledere I, Knauf C, Burcelin RR, Rutter GA, Kelsey G. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus TNDM. J Clin Invest 2004;114:339-348
-
(2004)
J Clin Invest
, vol.114
, pp. 339-348
-
-
Ma, D.1
Shield, J.P.2
Dean, W.3
Ledere, I.4
Knauf, C.5
Burcelin, R.R.6
Rutter, G.A.7
Kelsey, G.8
-
15
-
-
4043096481
-
Unlocking the secrets of the pancreatic beta cell: Man and mouse provide the key
-
Hattersley AT. Unlocking the secrets of the pancreatic beta cell: man and mouse provide the key. J Clin Invest 2004;114:314-316
-
(2004)
J Clin Invest
, vol.114
, pp. 314-316
-
-
Hattersley, A.T.1
-
16
-
-
23644446162
-
The channelopathies: Novel insights into molecular and genetic mechanisms of human disease
-
Kass RS. The channelopathies: novel insights into molecular and genetic mechanisms of human disease. J Clin Invest 2005;115:1986-1989
-
(2005)
J Clin Invest
, vol.115
, pp. 1986-1989
-
-
Kass, R.S.1
-
17
-
-
23644442552
-
ATP-sensitive potassium channelopathies: Focus on insulin secretion
-
Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005;115:2047-2058
-
(2005)
J Clin Invest
, vol.115
, pp. 2047-2058
-
-
Ashcroft, F.M.1
-
18
-
-
11144354704
-
Protection against hypoxic-ischemic injury in transgenic mice overexpressing Kir6.2 channel pore in forebrain
-
Heron-Milhavet L, Xue-Jun Y, Vannucci SJ, Wood TL, Willing LB, Stannard B, Hernandez-Sanchez C, Mobbs C, Virsolvy A, LeRoith D. Protection against hypoxic-ischemic injury in transgenic mice overexpressing Kir6.2 channel pore in forebrain. Mol Cell Neurosci 2004;25:585-593
-
(2004)
Mol Cell Neurosci
, vol.25
, pp. 585-593
-
-
Heron-Milhavet, L.1
Xue-Jun, Y.2
Vannucci, S.J.3
Wood, T.L.4
Willing, L.B.5
Stannard, B.6
Hernandez-Sanchez, C.7
Mobbs, C.8
Virsolvy, A.9
LeRoith, D.10
-
19
-
-
0036179325
-
Role of sarcolemmal K(ATP) channels in cardioprotection against ischemia/reperfusion injury in mice
-
Suzuki M, Sasaki N, Miki T, Sakamoto N, Ohmoto-Sekine Y, Tamagawa M, Seino S, Marban E, Nakaya H. Role of sarcolemmal K(ATP) channels in cardioprotection against ischemia/reperfusion injury in mice. J Clin Invest 2002;109:509-516
-
(2002)
J Clin Invest
, vol.109
, pp. 509-516
-
-
Suzuki, M.1
Sasaki, N.2
Miki, T.3
Sakamoto, N.4
Ohmoto-Sekine, Y.5
Tamagawa, M.6
Seino, S.7
Marban, E.8
Nakaya, H.9
-
20
-
-
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 USA 2002;99:13278-13283
-
(2002)
Proc Natl Acad Sci USA
, 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
-
21
-
-
0038781995
-
Knockout of Kir6.2 negates ischemic preconditioning-induced protection of myocardial energetics
-
Gumina RJ, Pucar D, Bast P, Hodgson DM, Kurtz CE, Dzeja PP, Miki T, Seino S, Terzic A. Knockout of Kir6.2 negates ischemic preconditioning-induced protection of myocardial energetics. Am J Physiol Heart Circ Physiol 2003;284:H2106-H2113
-
(2003)
Am J Physiol Heart Circ Physiol
, vol.284
-
-
Gumina, R.J.1
Pucar, D.2
Bast, P.3
Hodgson, D.M.4
Kurtz, C.E.5
Dzeja, P.P.6
Miki, T.7
Seino, S.8
Terzic, A.9
-
23
-
-
0025164846
-
Glucose, sulfonylureas, and neurotransmitter release: Role of ATP-sensitive K+ channels
-
Amoroso S, Schmid-Antomarchi H, Fosset M, Lazdunski M. Glucose, sulfonylureas, and neurotransmitter release: role of ATP-sensitive K+ channels. Science 1990;247:852-854
-
(1990)
Science
, vol.247
, pp. 852-854
-
-
Amoroso, S.1
Schmid-Antomarchi, H.2
Fosset, M.3
Lazdunski, M.4
-
24
-
-
0025372475
-
K+ channel openers activate brain sulfonylurea-sensitive K+ channels and block neurosecretion
-
Schmid-Antomarchi H, Amoroso S, Fosset M, Lazdunski M. K+ channel openers activate brain sulfonylurea-sensitive K+ channels and block neurosecretion. Proc Natl Acad Sci USA 1990;87:3489-3492
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 3489-3492
-
-
Schmid-Antomarchi, H.1
Amoroso, S.2
Fosset, M.3
Lazdunski, M.4
-
25
-
-
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 USA 2004;101:17539-17544
-
(2004)
Proc Natl Acad Sci USA
, 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
-
26
-
-
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 2004;350:1838-1849
-
(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..
-
27
-
-
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 2004;53:2998-3001
-
(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
-
28
-
-
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 2005;90:3174-3178
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3174-3178
-
-
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
-
29
-
-
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
-
30
-
-
33746681908
-
ATP-sensitive potassium channels - neonatal diabetes mellitus and beyond
-
Sperling MA. ATP-sensitive potassium channels - neonatal diabetes mellitus and beyond. N Engl J Med 2006;355:507-510
-
(2006)
N Engl J Med
, vol.355
, pp. 507-510
-
-
Sperling, M.A.1
|