-
1
-
-
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 et al (2004) 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)
N Engl J Med
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
-
2
-
-
20244368494
-
Relapsing diabetes can result from moderately activating mutations in KCNJ11
-
Gloyn AL, Reimann F, Girard C et al (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 14:925-934
-
(2005)
Hum Mol Genet
, vol.14
, pp. 925-934
-
-
Gloyn, A.L.1
Reimann, F.2
Girard, C.3
-
3
-
-
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 et al (2005) 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 90:3174-3178
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3174-3178
-
-
Yorifuji, T.1
Nagashima, K.2
Kurokawa, K.3
-
4
-
-
19944427182
-
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
-
Massa O, Iafusco D, D'Amato E et al (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 25:22-127
-
(2005)
Hum Mutat
, vol.25
, pp. 22-127
-
-
Massa, O.1
Iafusco, D.2
D'Amato, E.3
-
5
-
-
24144467758
-
Activating mutations in Kir6.2 and neonatal diabetes: New clinical syndromes, new scientific insights, and new therapy
-
Hattersley AT, Ashcroft FM (2005) Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 54:2503-2513
-
(2005)
Diabetes
, vol.54
, pp. 2503-2513
-
-
Hattersley, A.T.1
Ashcroft, F.M.2
-
6
-
-
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 et al (2004) Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 53:2713-2718
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
Raeder, H.2
Hathout, E.3
-
7
-
-
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 et al (2005) 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)
Diabetologia
, vol.48
, pp. 1029-1031
-
-
Klupa, T.1
Edghill, E.L.2
Nazim, J.3
-
8
-
-
8744262895
-
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2
-
Zung A, Glaser B, Nimri R, Zadik Z (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J Clin Endocrinol Metab 89:5504-5507
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5504-5507
-
-
Zung, A.1
Glaser, B.2
Nimri, R.3
Zadik, Z.4
-
9
-
-
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 (2005) 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)
Diabetes Care
, vol.28
, pp. 758-759
-
-
Codner, E.1
Flanagan, S.2
Ellard, S.3
Garcia, H.4
Hattersley, A.T.5
-
10
-
-
4644309915
-
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
-
Vaxillaire M, Populaire C, Busiah K et al (2004) Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 53:2719-2722
-
(2004)
Diabetes
, vol.53
, pp. 2719-2722
-
-
Vaxillaire, M.1
Populaire, C.2
Busiah, K.3
-
11
-
-
0001442499
-
Neonatal diabetes
-
Shield JPH, Baum JD (eds) Bailliere Tindall, London
-
Shield JPH (1996) Neonatal diabetes. In: Shield JPH, Baum JD (eds) Childhood diabetes. Bailliere Tindall, London, pp 681-740
-
(1996)
Childhood Diabetes
, pp. 681-740
-
-
Shield, J.P.H.1
-
12
-
-
1642430590
-
Neonatal and very-early-onset diabetes mellitus
-
Polak M, Shield J (2004) Neonatal and very-early-onset diabetes mellitus. Semin Neonatol 9:59-65
-
(2004)
Semin Neonatol
, vol.9
, pp. 59-65
-
-
Polak, M.1
Shield, J.2
-
13
-
-
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 et al (2004) 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)
Diabetes
, vol.53
, pp. 2998-3001
-
-
Edghill, E.L.1
Gloyn, A.L.2
Gillespie, K.M.3
-
14
-
-
20044389281
-
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
-
Proks P, Girard C, Haider S et al (2005) A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 6:470-475
-
(2005)
EMBO Rep
, vol.6
, pp. 470-475
-
-
Proks, P.1
Girard, C.2
Haider, S.3
-
15
-
-
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 et al (2004) 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)
J Clin Endocrinol Metab
, vol.89
, pp. 3932-3935
-
-
Gloyn, A.L.1
Cummings, E.A.2
Edghill, E.L.3
-
16
-
-
27744546143
-
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation
-
Colombo C, Delvecchio M, Zecchino C, Faienza MF, Cavallo L, Barbetti F (2005) Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. Diabetologia 48:2439-2441
-
(2005)
Diabetologia
, vol.48
, pp. 2439-2441
-
-
Colombo, C.1
Delvecchio, M.2
Zecchino, C.3
Faienza, M.F.4
Cavallo, L.5
Barbetti, F.6
-
17
-
-
10644233000
-
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features
-
USA
-
Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM (2004) Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 101:17539-17544
-
(2004)
Proc Natl Acad Sci
, 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
-
18
-
-
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 (2005) Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit. EMBO J 24:229-239
-
(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
-
19
-
-
33745288813
-
Extra-pancreatic manifestations of KCNJ11 activating mutations: Evidence to support a discrete syndrome of developmental delay, epilepsy and neonatal diabetes (DEND)
-
in press
-
Gloyn AL, Diatloff-Zito C, Edghill EL et al (2006) Extra-pancreatic manifestations of KCNJ11 activating mutations: evidence to support a discrete syndrome of developmental delay, epilepsy and neonatal diabetes (DEND). Eur J Hum Genet (in press)
-
(2006)
Eur J Hum Genet
-
-
Gloyn, A.L.1
Diatloff-Zito, C.2
Edghill, E.L.3
-
20
-
-
19444367729
-
Focus on Kir6.2: A key component of the ATP-sensitive potassium channel
-
Haider S, Antcliff JF, Proks P, Sansom MS, Ashcroft FM (2005) Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. J Mol Cell Cardiol 38:927-936
-
(2005)
J Mol Cell Cardiol
, vol.38
, pp. 927-936
-
-
Haider, S.1
Antcliff, J.F.2
Proks, P.3
Sansom, M.S.4
Ashcroft, F.M.5
-
21
-
-
0032525574
-
Molecular determinants of KATP channel inhibition by ATP
-
Tucker SJ, Gribble FM, Proks P et al (1998) Molecular determinants of KATP channel inhibition by ATP. EMBO J 17:3290-3296
-
(1998)
EMBO J
, vol.17
, pp. 3290-3296
-
-
Tucker, S.J.1
Gribble, F.M.2
Proks, P.3
-
22
-
-
3042637568
-
Permanent diabetes mellitus in the first year of life
-
Iafusco D, Stazi MA, Cotichini R et al (2002) Permanent diabetes mellitus in the first year of life. Diabetologia 45:798-804
-
(2002)
Diabetologia
, vol.45
, pp. 798-804
-
-
Iafusco, D.1
Stazi, M.A.2
Cotichini, R.3
-
23
-
-
24944501418
-
Functional effects of KCNJ11 mutations causing neonatal diabetes: Enhanced activation by MgATP
-
Proks P, Girard C, Ashcroft FM (2005) Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet 14:2717-2726
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2717-2726
-
-
Proks, P.1
Girard, C.2
Ashcroft, F.M.3
-
24
-
-
0032574329
-
British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood
-
Cole TJ, Freeman JV, Preece MA (1998) British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood. Stat Med 17:407-429
-
(1998)
Stat Med
, vol.17
, pp. 407-429
-
-
Cole, T.J.1
Freeman, J.V.2
Preece, M.A.3
-
25
-
-
12444274301
-
Crystal structure of the potassium channel KirBac 1.1 in the closed state
-
Kuo A, Antcliff JF, Rahman T (2003) Crystal structure of the potassium channel KirBac 1.1 in the closed state. Science 300:1922-1926
-
(2003)
Science
, vol.300
, pp. 1922-1926
-
-
Kuo, A.1
Antcliff, J.F.2
Rahman, T.3
|