-
1
-
-
0031914679
-
Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
-
(1998)
Diabet Med
, vol.15
, pp. 15-24
-
-
Hattersley, A.T.1
-
2
-
-
0027472126
-
Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes mellitus
-
(1993)
N Engl J Med
, vol.328
, pp. 697-702
-
-
Froguel, P.1
Zouali, H.2
Vionnet, N.3
Velho, G.4
Vaxillaire, M.5
Sun, F.6
Lesage, S.7
Stoffel, M.8
Takeda, J.9
Passa, P.10
-
3
-
-
14444278300
-
Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K.
-
(1997)
Diabetes
, vol.46
, pp. 720-725
-
-
Frayling, T.1
Bulman, M.P.2
Ellard, S.3
Appleton, M.4
Dronsfield, M.5
Mackie, A.6
Baird, J.7
Kaisaki, P.8
Yamagata, K.9
Bell, G.10
Bain, S.11
Hattersley, A.12
-
4
-
-
0035122282
-
β-cell genes and diabetes: Molecular and clinical characterization of mutations and transcription factors
-
(2001)
Diabetes
, vol.50
, Issue.SUPPL. 1
-
-
Frayling, T.1
Evans, J.C.2
Bulman, M.P.3
Pearson, E.4
Allen, L.5
Owen, K.6
Bingham, C.7
Hannemann, M.8
Shepherd, M.9
Ellard, S.10
Hattersley, A.T.11
-
5
-
-
0025297993
-
Glucokinase gene structure: Functional implications of molecular genetic studies
-
(1990)
Diabetes
, vol.39
, pp. 523-527
-
-
Magnuson, M.1
-
6
-
-
0025334163
-
Glucokinase as glucose sensor and metabolic signal generator in pancreatic β-cell and hepatocytes
-
(1990)
Diabetes
, vol.39
, pp. 647-752
-
-
Matschinsky, F.M.1
-
7
-
-
0027358380
-
Glucokinase as pancreatic beta cell glucose sensor and diabetes gene
-
(1993)
J Clin Invest
, vol.92
, pp. 2092-2098
-
-
Matschinsky, F.1
Liang, Y.2
Kesavan, P.3
Wang, L.4
Froguel, P.5
Velho, G.6
Cohen, D.7
Permutt, M.A.8
Tanizawa, Y.9
Jetton, T.L.10
-
8
-
-
0026562918
-
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
-
(1992)
Nature
, vol.356
, pp. 721-722
-
-
Vionnet, N.1
Stoffel, M.2
Takeda, J.3
Yasuda, K.4
Bell, G.I.5
Zouali, H.6
Lesage, S.7
Velho, G.8
Iris, F.9
Passa, P.10
-
9
-
-
8044260804
-
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
-
(1997)
Diabetologia
, vol.40
, pp. 217-224
-
-
Velho, G.1
Blanche, H.2
Vaxillaire, M.3
Bellanne-Chantelot, C.4
Pardini, V.C.5
Timsit, J.6
Passa, P.7
Robert, J.J.8
Weber, I.T.9
Marotta, D.10
Pilkis, S.J.11
Lipkind, G.M.12
Bell, G.I.13
Froguel, P.14
-
10
-
-
0028985868
-
Clinical characteristics of subjects with a missense mutation in glucokinase
-
(1995)
Diabet Med
, vol.12
, pp. 209-217
-
-
Page, R.C.1
Hattersley, A.T.2
Levy, J.C.3
Barrow, B.4
Patel, P.5
Lo, D.6
Wainscoat, J.S.7
Permutt, M.A.8
Bell, G.I.9
Turner, R.C.10
-
11
-
-
0026583193
-
Linkage of type 2 diabetes to the glucokinase gene
-
(1992)
Lancet
, vol.339
, pp. 1307-1310
-
-
Hattersley, A.T.1
Turner, R.C.2
Permutt, M.A.3
Patel, P.4
Tanizawa, Y.5
Chiu, K.C.6
O'Rahilly, S.7
Watkins, P.J.8
Wainscoat, J.S.9
-
12
-
-
0026754672
-
Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young
-
(1992)
Lancet
, vol.340
, pp. 444-448
-
-
Velho, G.1
Froguel, P.2
Clement, K.3
Pueyo, M.E.4
Rakotoambinina, B.5
Zouali, H.6
Passa, P.7
Cohen, D.8
Robert, J.J.9
-
13
-
-
0028353674
-
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations
-
(1994)
J Clin Invest
, vol.93
, pp. 1120-1130
-
-
Byrne, M.M.1
Sturis, J.2
Clement, K.3
Vionnet, N.4
Pueyo, M.E.5
Stoffel, M.6
Takeda, J.7
Passa, P.8
Cohen, D.9
Bell, G.I.10
-
14
-
-
0029864561
-
Impaired hepatic glycogen-synthesis in glucokinase-deficient (MODY2) subjects
-
(1996)
J Clin Invest
, vol.98
, pp. 1755-1761
-
-
Velho, G.1
Petersen, K.F.2
Pereseghin, G.3
Hwang, J.H.4
Rothman, D.L.5
Pueyo, M.E.6
Cline, G.W.7
Froguel, P.8
Shulman, G.I.9
-
16
-
-
10544249874
-
Mutations in the hepatic nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3)
-
(1996)
Nature
, vol.384
, pp. 455-458
-
-
Yamagata, K.1
Oda, N.2
Kaisaki, P.J.3
Menzel, S.4
Furuta, H.5
Vaxillaire, M.6
Southam, L.7
Cox, R.D.8
Lathrop, G.M.9
Boriraj, V.V.10
Chen, X.11
Cox, N.J.12
Oda, Y.13
Yano, H.14
Le Beau, M.M.15
Yamada, S.16
Nishigori, H.17
Takeda, J.18
Fajans, S.S.19
Hattersley, A.T.20
Iwasaki, N.21
Hansen, T.22
Pedersen, O.23
Polonsky, K.S.24
Bell, G.I.25
more..
-
17
-
-
0028907342
-
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
-
(1995)
Nat Genet
, vol.9
, pp. 418-423
-
-
Vaxillaire, M.1
Boccio, V.2
Philippi, A.3
Vigouroux, C.4
Terwilliger, J.5
Passa, P.6
Beckmann, J.S.7
Velho, G.8
Lathrop, G.M.9
Froguel, P.10
-
18
-
-
15144351715
-
Mutations in the hepatocyte nuclear factor 1α gene in MODY and early-onset NIDDM: Evidence for a mutational hotspot in exon 4
-
(1997)
Diabetes
, vol.45
, pp. 528-535
-
-
Kaisaki, P.J.1
Menzel, S.2
Lindner, T.3
Oda, N.4
Rjasanowski, I.5
Sahm, J.6
Meincke, G.7
Schulze, J.8
Schmechel, H.9
Petzold, C.10
Ledermann, H.M.11
Sachse, G.12
Boriraj, V.V.13
Menzel, R.14
Kerner, W.15
Turner, R.C.16
Yamagata, K.17
Bell, G.I.18
-
19
-
-
8244219694
-
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity onset diabetes of the young (MODY3)
-
(1997)
Hum Mol Genet
, vol.6
, pp. 583-586
-
-
Vaxillaire, M.1
Rouard, M.2
Yamagata, K.3
Oda, N.4
Kaisaki, P.J.5
Boriraj, V.V.6
Chevre, J.-C.7
Boccio, V.8
Cox, R.D.9
Lathrop, M.10
Dussoix, P.11
Philippe, J.12
Timsit, J.13
Charpentier, G.14
Velho, G.15
Bell, G.I.16
Froguel, P.17
-
20
-
-
15444352146
-
Novel MODY3 mutations in the hepatic nuclear factor-1α gene: Evidence for a hyperexcitability of pancreatic β-cells to intravenous secretagogues in a glucose-tolerant career of a P447L mutation
-
(1997)
Diabetes
, vol.46
, pp. 726-730
-
-
Hansen, T.1
Eiberg, H.2
Rouard, M.3
Vaxillaire, M.4
Moller, A.M.5
Rasmussen, S.K.6
Fridberg, M.7
Urhammer, S.A.8
Holst, J.J.9
Almind, K.10
Echwald, S.M.11
Hansen, L.12
Bell, G.I.13
Pedersen, O.14
-
22
-
-
0031007206
-
Novel mutations and a mutational hotspot in the MODY3 gene
-
(1997)
Diabetes
, vol.46
, pp. 1081-1086
-
-
Glucksmann, M.A.1
Lehto, M.2
Tayber, O.3
Scotti, S.4
Berkemeier, L.5
Pulido, C.6
Wu, Y.7
Nir, W.-J.8
Fang, L.9
Markel, P.10
Munnelly, K.D.11
Goranson, J.12
Orho, M.13
Young, B.M.14
Whitacre, J.L.15
McMenimen, C.16
Wantman, M.17
Tuomi, T.18
Warram, J.19
Forsblom, C.M.20
Carlsson, M.21
Rosenzweig, J.22
Kennedy, G.23
Duyk, G.M.24
Thomas, J.D.25
more..
-
23
-
-
15444341853
-
Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM
-
(1997)
Diabetes
, vol.46
, pp. 1504-1508
-
-
Iwasaki, N.1
Oda, N.2
Ogata, M.3
Hara, M.4
Hinokio, Y.5
Oda, Y.6
Yamagata, K.7
Kanematsu, S.8
Ohgawara, H.9
Omori, Y.10
Bell, G.I.11
-
24
-
-
10244249309
-
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12
-
(1996)
Diabetes
, vol.45
, pp. 1503-1510
-
-
Byrne, M.M.1
Sturis, J.2
Menzel, S.3
Yamagata, K.4
Fajans, S.S.5
Dronsfield, M.J.6
Bain, S.C.7
Hattersley, A.T.8
Velho, G.9
Froguel, P.10
Bell, G.I.11
Polonsky, K.S.12
-
25
-
-
0031027502
-
Characterization of the MODY3 phenotype: Early-onset diabetes caused by an insulin secretion defect
-
(1997)
J Clin Invest
, vol.99
, pp. 582-591
-
-
Lehto, M.1
Tuomi, T.2
Mahtani, M.M.3
Widen, E.4
Forsblom, C.5
Sarelin, L.6
Gullstrom, M.7
Isomaa, B.8
Lehtovirta, M.9
Hyrkko, A.10
Kanninen, T.11
Orho, M.12
Manley, S.13
Turner, R.C.14
Brettin, T.15
Kirby, A.16
Thomas, J.17
Duyk, G.18
Lander, E.19
Taskinen, M.R.20
Groop, L.21
more..
-
26
-
-
0033382912
-
Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1 alpha (maturity-onset diabetes of the young-3) mutations
-
(1999)
Eur J Endocrinol
, vol.141
, pp. 609-618
-
-
Vaxillaire, M.1
Pueyo, M.E.2
Clement, K.3
Fiet, J.4
Timsit, J.5
Philippe, J.6
Robert, J.-J.7
Tappy, L.8
Froguel, P.9
Velho, G.10
-
27
-
-
18144452590
-
Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice
-
(1998)
J Clin Invest
, vol.101
, pp. 2215-2222
-
-
Pontoglio, M.1
Sreenan, S.2
Roe, M.3
Pugh, W.4
Ostrega, D.5
Doyen, A.6
Pick, A.J.7
Baldwin, A.8
Velho, G.9
Froguel, P.10
Levisetti, M.11
Banner-Weir, S.12
Bell, G.I.13
Yaniv, M.14
Polonsky, K.S.15
-
34
-
-
0024340494
-
Sensitive and specific two site immunoradiometric assays for human insulin, proinsulin, 65-66 split and 32-33 split proinsulins
-
(1989)
Biochem J
, vol.260
, pp. 535-541
-
-
Sobey, W.1
Beer, S.2
Carrington, C.3
Clark, P.4
Frank, B.5
Gray, I.6
Owens, D.7
Schneider, A.8
Siddle, K.9
Temple, R.10
Hales, C.11
-
41
-
-
0030070074
-
Assessment of insulin sensitivity in glucokinase-deficient subjects
-
(1996)
Diabetologia
, vol.39
, pp. 82-90
-
-
Clement, K.1
Pueyo, M.E.2
Vaxillaire, M.3
Rakotoambinina, B.4
Thuillier, F.5
Passa, P.6
Froguel, P.7
Robert, J.-J.8
Velho, G.9
-
42
-
-
0032544741
-
Defective pancreatic β-cell glycolytic signalling in hepatocyte nuclear factor-1α-deficient mice
-
(1998)
J Biol Chem
, vol.273
, pp. 24457-24464
-
-
Dukes, I.D.1
Sreenan, S.2
Roe, M.W.3
Levisetti, M.4
Zhou, Y.P.5
Ostrega, D.6
Bell, G.I.7
Pontoglio, M.8
Yaniv, M.9
Philipson, L.10
Polonsky, K.S.11
|