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Tolbutamide-induced improvement in carbohydrate tolerance of young people with mild diabetes mellitus
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3 Bell GI, Xiang KS, Newman MV, Wu SH, Wright LG, Fajans SS, Spielman RS, Cox NJ: Gene for non-insulin dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci USA 1991,88:1484-1488.
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A gene for maturity-onset diabetes of the young (MODY) maps to chromosome 12q
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4 Vaxillaire M, Boccio V, Philippi A, Vigouroux G, Terwilliger J, Passa P, Beckman JS, Velho G, Lathrop GM, Froguel P: A gene for maturity-onset diabetes of the young (MODY) maps to chromosome 12q. Nature Genet 1995, 9:418-23.
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Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3)
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5 Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj W, Chen X, Cox NJ, Oda Y, Yano H, LeBeau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Chevre J-C, Froguel P, Bell GI: Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3).Nature 1996;384:455-458.
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Yamagata, K.1
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Hansen, T.22
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Froguel, P.28
Bell, G.I.29
more..
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6
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10544236911
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Mutations in the hepatocyte nuclear factor 4-alpha gene in maturity-onset diabetes of the young (MODY1)
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6 Yamagata K, Furuta H, Oda N, Kaisaki JK, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor 4-alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996,384:458-60.
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Yamagata, K.1
Furuta, H.2
Oda, N.3
Kaisaki, J.K.4
Menzel, S.5
Cox, N.J.6
Fajans, S.S.7
Signorini, S.8
Stoffel, M.9
Bell, G.I.10
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7
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0031253820
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Early-onset type -II diabetes mellitus (MODY4) linked to IPF-1
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7 Stoffers DA, Ferrer J, Clarke WL, Habener JF: Early-onset type -II diabetes mellitus (MODY4) linked to IPF-1. Nature Genet 1997, 17:138-139. Describes the first MODY4 family.
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Stoffers, D.A.1
Ferrer, J.2
Clarke, W.L.3
Habener, J.F.4
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8
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Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF-1 coding region
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8 Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF: Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF-1 coding region. Nature Genet 1997, 15:106-110.
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Stoffers, D.A.1
Zinkin, N.T.2
Stanojevic, V.3
Clarke, W.L.4
Habener, J.F.5
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9
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Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein
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9 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 1998, 102:232-241.
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Stoffers, D.A.1
Stanojevic, V.2
Habener, J.F.3
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10
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0031453186
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Mutation in the hepatocyte nuclear factor-1β gene (TCF2) associated with MODY
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10 Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI: Mutation in the hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nature Genet 1997, 17:384-385. Describes the first MODY5 family.
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Nature Genet
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Horikawa, Y.1
Iwasaki, N.2
Hara, M.3
Furuta, H.4
Hinokio, Y.5
Cockburn, B.N.6
Lindner, T.7
Yamagata, K.8
Ogata, M.9
Tomonaga, O.10
Kuroki, H.11
Kasahara, T.12
Iwamoto, Y.13
Bell, G.I.14
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11
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0031027502
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Characterization of the MODY3 phenotype: Early-onset diabetes caused by an insulin secretion defect
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11 Lehto M, Tuomi T, Mahtani MM, Widén E, Forsblom C, Sarelin L, Gullström M, Isomaa B, Lehtovirta M, Hyrkkö A, Kanninen T, Orho M, Manley S, Turner RC, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen M-R and Groop L: Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest 1997, 99;582-591.
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J Clin Invest
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Lehto, M.1
Tuomi, T.2
Mahtani, M.M.3
Widén, E.4
Forsblom, C.5
Sarelin, L.6
Gullström, M.7
Isomaa, B.8
Lehtovirta, M.9
Hyrkkö, 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..
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12
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0031702434
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Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1α gene
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12 Surmely J-F, Guenat E, Philippe J, Dussoix P, Schneiter P, Temler E, Vaxillaire M, Froguel P, Jeqiér E, Tappy L: Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1α gene. Diabetes 1998, 47:1459-63.
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Diabetes
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Surmely, J.-F.1
Guenat, E.2
Philippe, J.3
Dussoix, P.4
Schneiter, P.5
Temler, E.6
Vaxillaire, M.7
Froguel, P.8
Jeqiér, E.9
Tappy, L.10
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13
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0030695028
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Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4α/MODY1 gene
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13 Herman WH, Fajans SS, Smith MJ, Polonsky KS, Bell GI, Halter JB: Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4α/MODY1 gene. Diabetes 1997, 46:1749-1754.
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Diabetes
, vol.46
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Herman, W.H.1
Fajans, S.S.2
Smith, M.J.3
Polonsky, K.S.4
Bell, G.I.5
Halter, J.B.6
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14
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0031802977
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MODY1 mutation Q268X in hepatocyte nuclear factor 4α allows for dimerization in solution but causes abnormal subcellular localization
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14 Sladek FM, Dallas-Yang Q, Nepomuceno L: MODY1 mutation Q268X in hepatocyte nuclear factor 4α allows for dimerization in solution but causes abnormal subcellular localization. Diabetes 1998, 47:985-90. Provides an explanation for how heterozygous mutations can cause impaired beta cell function, demonstrating that the mutated protein has a different subcellular localization than the wild-type protein.
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(1998)
Diabetes
, vol.47
, pp. 985-990
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Sladek, F.M.1
Dallas-Yang, Q.2
Nepomuceno, L.3
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15
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0030695445
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The maturity-onset diabetes of the young (MODY1) transcription factor HNF-4α regulates expression of genes required for glucose transport and metabolism
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15 Stoffel M, Duncan SA: The maturity-onset diabetes of the young (MODY1) transcription factor HNF-4α regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci USA 1997, 94:13209-13214. A keynote paper demonstrating that mutations in the HNF-4α gene result in impaired expression of a number of genes involved in lipid metabolism and glycolysis.
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(1997)
Proc Natl Acad Sci USA
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Stoffel, M.1
Duncan, S.A.2
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16
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18144452590
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Defective insulin secretion in hepatocyte nuclear factor -1α deficient mice
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16 Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A, Pick AJ, Baldwin A, Velho G, Froguel P, Levisetti M, Bonner-Weir S, Bell GI, Yaniv M, Polonsky KS: Defective insulin secretion in hepatocyte nuclear factor -1α deficient mice. J Clin Invest 1998, 101:2215-222. Characterizes the clinical phenotype of HNF-1α-deficient mice (15% reduction in insulin secretion not due to a reduction in beta cell mass).
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(1998)
J Clin Invest
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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
Bonner-Weir, S.12
Bell, G.I.13
Yaniv, M.14
Polonsky, K.S.15
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17
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0032544741
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Defective pancreatic β-cell glycolytic signaling in hepatocyte nuclear factor-1α-deficient mice
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17 Dukes ID, Sreenan S, Roe MW, Levisetti M, Zhou Y-P, Ostrega D, Bell GI, Pontoglio M, Yaniv M, Philipson L, Polonsky KS: Defective pancreatic β-cell glycolytic signaling in hepatocyte nuclear factor-1α-deficient mice. J Biol Chern 1998, 273:24457-24464. A very important paper demonstrating that impaired beta cell function in the HNF-1α null mice is due to impaired generation of ATP in glycolysis.
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J Biol Chern
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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
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18
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0031956073
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Hyperexitability to sulfonylurea in MODY3
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18 Sövik O, Njölstad P, Fölling I, Sagen J, Cockburn BN, Bell GI: Hyperexitability to sulfonylurea in MODY3. Diabetologia 1997, 40:607-608.
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(1997)
Diabetologia
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Sövik, O.1
Njölstad, P.2
Fölling, I.3
Sagen, J.4
Cockburn, B.N.5
Bell, G.I.6
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19
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0032584567
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Regulation of a transcription factor network required for differentiation and metabolism
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19 Duncan SA, Navas MA, Dufort D, Rossant J, Stoffel M: Regulation of a transcription factor network required for differentiation and metabolism. Science 1998, 281:692-694. Provides elegant evidence for the existence of a hierarchial transcription factor network modulated by insulin.
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Science
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Duncan, S.A.1
Navas, M.A.2
Dufort, D.3
Rossant, J.4
Stoffel, M.5
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20
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0032556969
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Familial hyperinsulinisk caused by an activating glucokinase mutation
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20 Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt AM, Matschinsky FM, Herold KC: Familial hyperinsulinisk caused by an activating glucokinase mutation. New Engl J Med 1998,338:226-230. Describes the first family with a mutation in the glucokinase gene increasing the affinity of glucokinase for glucose, thereby causing hyperinsulinism and hypoglycemia.
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(1998)
New Engl J Med
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, pp. 226-230
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Glaser, B.1
Kesavan, P.2
Heyman, M.3
Davis, E.4
Cuesta, A.5
Buchs, A.6
Stanley, C.A.7
Thornton, P.S.8
Permutt, A.M.9
Matschinsky, F.M.10
Herold, K.C.11
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21
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0031859976
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Mutations in the glucokinase gene of the fetus result in reduced birth weight
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21 Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S: Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nature Genet 1998,19:268-270. Demonstrates convincingly that of siblings discordant for glucokinase mutations, the siblings with the mutation has a birth weight of about 500 grams fess than the sibling without the mutation.
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(1998)
Nature Genet
, vol.19
, pp. 268-270
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Hattersley, A.T.1
Beards, F.2
Ballantyne, E.3
Appleton, M.4
Harvey, R.5
Ellard, S.6
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22
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0031848798
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Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear facior-1β gene associated with diabetes and renal dysfunction
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22 Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J: Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear facior-1β gene associated with diabetes and renal dysfunction. Diabetes 1998, 47:1354-1355.
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Diabetes
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, pp. 1354-1355
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Nishigori, H.1
Yamada, S.2
Kohama, T.3
Tomura, H.4
Sho, K.5
Horikawa, Y.6
Bell, G.I.7
Takeuchi, T.8
Takeda, J.9
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23
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0031748728
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Mutations in the hepatocyte nuclear factor-1β are not a common cause of maturity-onset diabetes of the young in the U.K.
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23 Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT: Mutations in the hepatocyte nuclear factor-1β are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1998, 47:1152-1154.
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Diabetes
, vol.47
, pp. 1152-1154
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Beards, F.1
Frayling, T.2
Bulman, M.3
Horikawa, Y.4
Allen, L.5
Appleton, M.6
Bell, G.I.7
Ellard, S.8
Hattersley, A.T.9
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24
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2642709182
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Insulin promoter factor 1 gene is not a major cause of maturity-onset diabetes of the young in French Caucasians
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24 Chevré J-C, Hani EH, Stoffers DA, Habener JF, Froguel P: Insulin promoter factor 1 gene is not a major cause of maturity-onset diabetes of the young in French Caucasians. Diabetes 1998, 47:843-844.
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(1998)
Diabetes
, vol.47
, pp. 843-844
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Chevré, J.-C.1
Hani, E.H.2
Stoffers, D.A.3
Habener, J.F.4
Froguel, P.5
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25
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16044374799
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Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families
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25 Mahtani MM, Widén E, Lehto M, Thomas J, McCarthy M, Brayer J, Bryant B, Chan G, Daly M, Forsblom C, Kanninen T, Kirby A, Kruglyak L, Munnelly K, Parkkonen M, Reeve-Daly MP, Weawer A, Brettin T, Duyk G, Lander ES, Groop L: Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nature Genet 1996, 14:1490-94.
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(1996)
Nature Genet
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Mahtani, M.M.1
Widén, E.2
Lehto, M.3
Thomas, J.4
McCarthy, M.5
Brayer, J.6
Bryant, B.7
Chan, G.8
Daly, M.9
Forsblom, C.10
Kanninen, T.11
Kirby, A.12
Kruglyak, L.13
Munnelly, K.14
Parkkonen, M.15
Reeve-Daly, M.P.16
Weawer, A.17
Brettin, T.18
Duyk, G.19
Lander, E.S.20
Groop, L.21
more..
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26
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0031713870
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Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q
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26 Shaw JTE, Lovelock PK, Kesting JB, Cardinal J, Duffy D, Wainwright B, Cameran DP: Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q. Diabetes 1998, 47:1793-1796.
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Diabetes
, vol.47
, pp. 1793-1796
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Shaw, J.T.E.1
Lovelock, P.K.2
Kesting, J.B.3
Cardinal, J.4
Duffy, D.5
Wainwright, B.6
Cameran, D.P.7
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27
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0032006573
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A missense mutation in hepatocyte nuclear factor-4α, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus
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27 Hani EH, Suaud L, Boutin P, Chèvre J-C, Durand E, Philippi A, Demenais F, Vionnet N, Furuta H, Velho G, Bell GI, Laine B, Froguel P: A missense mutation in hepatocyte nuclear factor-4α, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. J Clin Invest 1998, 101:521-26. Describes a family with late-onset type 2 diabetes with a functional mutation in the HNF-4α gene.
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(1998)
J Clin Invest
, vol.101
, pp. 521-526
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Hani, E.H.1
Suaud, L.2
Boutin, P.3
Chèvre, J.-C.4
Durand, E.5
Philippi, A.6
Demenais, F.7
Vionnet, N.8
Furuta, H.9
Velho, G.10
Bell, G.I.11
Laine, B.12
Froguel, P.13
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28
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0032473950
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Fatty-acyl-CoA thioesters are ligands of hepatic nuclear factor -4α
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28 Hertz R, Magenheim J, Berman I, Bar-Tana J: Fatty-acyl-CoA thioesters are ligands of hepatic nuclear factor -4α. Science 1998,392:512-516. Provides interesting and novel data showing that dietary fatty acids can serve as ligands for HNF-4α.
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(1998)
Science
, vol.392
, pp. 512-516
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Hertz, R.1
Magenheim, J.2
Berman, I.3
Bar-Tana, J.4
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