-
1
-
-
84878107677
-
From genetic discovery to future personalized health research
-
Palotie, A., Widen, E. and Ripatti, S. (2013) From genetic discovery to future personalized health research. Nat. Biotechnol., 30, 291-295.
-
(2013)
Nat. Biotechnol.
, vol.30
, pp. 291-295
-
-
Palotie, A.1
Widen, E.2
Ripatti, S.3
-
2
-
-
84857654651
-
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
-
Bonnefond, A., Clement, N., Fawcett, K., Yengo, L., Vaillant, E., Guillaume, J.L., Dechaume, A., Payne, F., Roussel, R., Czernichow, S. et al. (2012) Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat. Genet., 44, 297-301.
-
(2012)
Nat. Genet.
, vol.44
, pp. 297-301
-
-
Bonnefond, A.1
Clement, N.2
Fawcett, K.3
Yengo, L.4
Vaillant, E.5
Guillaume, J.L.6
Dechaume, A.7
Payne, F.8
Roussel, R.9
Czernichow, S.10
-
3
-
-
84855425880
-
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
-
Rees, M.G., Ng, D., Ruppert, S., Turner, C., Beer, N.L., Swift, A.J., Morken, M.A., Below, J.E., Blech, I., Mullikin, J.C. et al. (2012) Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. J. Clin. Invest., 122, 205-217.
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 205-217
-
-
Rees, M.G.1
Ng, D.2
Ruppert, S.3
Turner, C.4
Beer, N.L.5
Swift, A.J.6
Morken, M.A.7
Below, J.E.8
Blech, I.9
Mullikin, J.C.10
-
4
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
Kiezun, A., Garimella, K., Do, R., Stitziel, N.O., Neale, B.M., McLaren, P.J., Gupta, N., Sklar, P., Sullivan, P.F., Moran, J.L. et al. (2012) Exome sequencing and the genetic basis of complex traits. Nat. Genet., 44, 623-630.
-
(2012)
Nat. Genet.
, vol.44
, pp. 623-630
-
-
Kiezun, A.1
Garimella, K.2
Do, R.3
Stitziel, N.O.4
Neale, B.M.5
McLaren, P.J.6
Gupta, N.7
Sklar, P.8
Sullivan, P.F.9
Moran, J.L.10
-
5
-
-
77955868835
-
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
-
Flanagan, S.E., Patch, A.M. and Ellard, S. (2010) Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet. Test. Mol. Biomarkers, 14, 533-537.
-
(2010)
Genet. Test. Mol. Biomarkers
, vol.14
, pp. 533-537
-
-
Flanagan, S.E.1
Patch, A.M.2
Ellard, S.3
-
6
-
-
0024556170
-
Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins
-
Hunt, S.C., Hasstedt, S.J., Kuida, H., Stults, B.M., Hopkins, P.N. and Williams, R.R. (1989) Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins. Am. J. Epidemiol., 129, 625-638.
-
(1989)
Am. J. Epidemiol.
, vol.129
, pp. 625-638
-
-
Hunt, S.C.1
Hasstedt, S.J.2
Kuida, H.3
Stults, B.M.4
Hopkins, P.N.5
Williams, R.R.6
-
7
-
-
34249888775
-
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
-
Saxena, R., Voight, B.F., Lyssenko, V., Burtt, N.P., de Bakker, P.I., Chen, H., Roix, J.J., Kathiresan, S., Hirschhorn, J.N., Daly, M.J. et al. (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science, 316, 1331-1336.
-
(2007)
Science
, vol.316
, pp. 1331-1336
-
-
Saxena, R.1
Voight, B.F.2
Lyssenko, V.3
Burtt, N.P.4
de Bakker, P.I.5
Chen, H.6
Roix, J.J.7
Kathiresan, S.8
Hirschhorn, J.N.9
Daly, M.J.10
-
8
-
-
77955070766
-
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
-
Johansen, C.T., Wang, J., Lanktree, M.B., Cao, H., McIntyre, A.D., Ban, M.R., Martins, R.A., Kennedy, B.A., Hassell, R.G., Visser, M.E. et al. (2010) Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat. Genet., 42, 684-687.
-
(2010)
Nat. Genet.
, vol.42
, pp. 684-687
-
-
Johansen, C.T.1
Wang, J.2
Lanktree, M.B.3
Cao, H.4
McIntyre, A.D.5
Ban, M.R.6
Martins, R.A.7
Kennedy, B.A.8
Hassell, R.G.9
Visser, M.E.10
-
9
-
-
70349980881
-
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver
-
Beer, N.L., Tribble, N.D., McCulloch, L.J., Roos, C., Johnson, P.R., Orho-Melander, M. and Gloyn, A.L. (2009) The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver. Hum. Mol. Genet., 18, 4081-4088.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4081-4088
-
-
Beer, N.L.1
Tribble, N.D.2
McCulloch, L.J.3
Roos, C.4
Johnson, P.R.5
Orho-Melander, M.6
Gloyn, A.L.7
-
10
-
-
84856733126
-
Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
-
Rees, M.G., Wincovitch, S., Schultz, J., Waterstradt, R., Beer, N.L., Baltrusch, S., Collins, F.S. and Gloyn, A.L. (2012) Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk. Diabetologia, 55, 114-122.
-
(2012)
Diabetologia
, vol.55
, pp. 114-122
-
-
Rees, M.G.1
Wincovitch, S.2
Schultz, J.3
Waterstradt, R.4
Beer, N.L.5
Baltrusch, S.6
Collins, F.S.7
Gloyn, A.L.8
-
11
-
-
84878216569
-
Crystal structure of glucokinase regulatory protein
-
Pautsch, A., Stadler, N., Lohle, A., Rist, W., Berg, A., Glocker, L., Nar, H., Reinert, D., Lenter, M., Heckel, A. et al. (2013) Crystal structure of glucokinase regulatory protein. Biochemistry, 52, 3523-3531.
-
(2013)
Biochemistry
, vol.52
, pp. 3523-3531
-
-
Pautsch, A.1
Stadler, N.2
Lohle, A.3
Rist, W.4
Berg, A.5
Glocker, L.6
Nar, H.7
Reinert, D.8
Lenter, M.9
Heckel, A.10
-
12
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng, P.C. and Henikoff, S. (2001) Predicting deleterious amino acid substitutions. Genome Res., 11, 863-874.
-
(2001)
Genome Res.
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
13
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
14
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
Gonzalez-Perez, A. and Lopez-Bigas, N. (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet., 88, 440-449.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 440-449
-
-
Gonzalez-Perez, A.1
Lopez-Bigas, N.2
-
15
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
Teslovich, T.M., Musunuru, K., Smith, A.V., Edmondson, A.C., Stylianou, I.M., Koseki, M., Pirruccello, J.P., Ripatti, S., Chasman, D.I., Willer, C.J. et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature, 466, 707-713.
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
Edmondson, A.C.4
Stylianou, I.M.5
Koseki, M.6
Pirruccello, J.P.7
Ripatti, S.8
Chasman, D.I.9
Willer, C.J.10
-
16
-
-
80051551063
-
An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia
-
Johansen, C.T., Wang, J., Lanktree, M.B., McIntyre, A.D., Ban, M.R., Martins, R.A., Kennedy, B.A., Hassell, R.G., Visser, M.E., Schwartz, S.M. et al. (2011) An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia. Arterioscler. Thromb. Vasc. Biol., 31, 1916-1926.
-
(2011)
Arterioscler. Thromb. Vasc. Biol.
, vol.31
, pp. 1916-1926
-
-
Johansen, C.T.1
Wang, J.2
Lanktree, M.B.3
McIntyre, A.D.4
Ban, M.R.5
Martins, R.A.6
Kennedy, B.A.7
Hassell, R.G.8
Visser, M.E.9
Schwartz, S.M.10
-
17
-
-
54249088172
-
Commonmissense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations
-
Orho-Melander, M., Melander, O., Guiducci, C., Perez-Martinez, P., Corella, D., Roos, C., Tewhey, R., Rieder, M.J., Hall, J., Abecasis, G. et al. (2008)Commonmissense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes, 57, 3112-3121.
-
(2008)
Diabetes
, vol.57
, pp. 3112-3121
-
-
Orho-Melander, M.1
Melander, O.2
Guiducci, C.3
Perez-Martinez, P.4
Corella, D.5
Roos, C.6
Tewhey, R.7
Rieder, M.J.8
Hall, J.9
Abecasis, G.10
-
18
-
-
67349139275
-
Assessing the potential of glucokinase activators in diabetes therapy
-
Matschinsky, F.M. (2009) Assessing the potential of glucokinase activators in diabetes therapy. Nat. Rev. Drug Discov., 8, 399-416.
-
(2009)
Nat. Rev. Drug Discov.
, vol.8
, pp. 399-416
-
-
Matschinsky, F.M.1
-
19
-
-
84862215515
-
Effects of a glucokinase activator on hepatic intermediary metabolism: study with (13)C-isotopomer-based metabolomics
-
Nissim, I., Horyn, O., Daikhin, Y., Wehrli, S.L., Yudkoff, M. and Matschinsky, F.M. (2012) Effects of a glucokinase activator on hepatic intermediary metabolism: study with (13)C-isotopomer-based metabolomics. Biochem. J., 444, 537-551.
-
(2012)
Biochem. J.
, vol.444
, pp. 537-551
-
-
Nissim, I.1
Horyn, O.2
Daikhin, Y.3
Wehrli, S.L.4
Yudkoff, M.5
Matschinsky, F.M.6
-
20
-
-
84871586858
-
Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
-
Rees, M.G. and Gloyn, A.L. (2013) Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour? Br. J. Pharmacol., 168, 335-338.
-
(2013)
Br. J. Pharmacol.
, vol.168
, pp. 335-338
-
-
Rees, M.G.1
Gloyn, A.L.2
-
21
-
-
84871604441
-
Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans
-
De Ceuninck, F., Kargar, C., Ilic, C., Caliez, A., Rolin, J.O., Umbdenstock, T., Vinson, C., Combettes, M., de Fanti, B., Harley, E. et al. (2013) Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans. Br. J. Pharmacol., 168, 339-353.
-
(2013)
Br. J. Pharmacol.
, vol.168
, pp. 339-353
-
-
De Ceuninck, F.1
Kargar, C.2
Ilic, C.3
Caliez, A.4
Rolin, J.O.5
Umbdenstock, T.6
Vinson, C.7
Combettes, M.8
de Fanti, B.9
Harley, E.10
-
22
-
-
81555210580
-
Effects of MK-0941,a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes
-
Meininger, G.E., Scott, R., Alba, M., Shentu, Y., Luo, E., Amin, H., Davies, M.J., Kaufman, K.D. and Goldstein, B.J. (2011) Effects of MK-0941,a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes. Diabetes Care, 34, 2560-2566.
-
(2011)
Diabetes Care
, vol.34
, pp. 2560-2566
-
-
Meininger, G.E.1
Scott, R.2
Alba, M.3
Shentu, Y.4
Luo, E.5
Amin, H.6
Davies, M.J.7
Kaufman, K.D.8
Goldstein, B.J.9
-
23
-
-
0036227541
-
The second activating glucokinase mutation (A456 V): implications for glucose homeostasis and diabetes therapy
-
Christesen, H.B., Jacobsen, B.B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M.A., Shiota, C. et al. (2002) The second activating glucokinase mutation (A456 V): implications for glucose homeostasis and diabetes therapy. Diabetes, 51, 1240-1246.
-
(2002)
Diabetes
, vol.51
, pp. 1240-1246
-
-
Christesen, H.B.1
Jacobsen, B.B.2
Odili, S.3
Buettger, C.4
Cuesta-Munoz, A.5
Hansen, T.6
Brusgaard, K.7
Massa, O.8
Magnuson, M.A.9
Shiota, C.10
-
24
-
-
0041319267
-
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations
-
Gloyn, A.L., Noordam, K., Willemsen, M.A., Ellard, S., Lam, W.W., Campbell, I.W., Midgley, P., Shiota, C., Buettger, C., Magnuson, M.A. et al. (2003) Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes, 52, 2433-2440.
-
(2003)
Diabetes
, vol.52
, pp. 2433-2440
-
-
Gloyn, A.L.1
Noordam, K.2
Willemsen, M.A.3
Ellard, S.4
Lam, W.W.5
Campbell, I.W.6
Midgley, P.7
Shiota, C.8
Buettger, C.9
Magnuson, M.A.10
-
25
-
-
84890554734
-
Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors
-
Lloyd, D.J., St Jean, D.J. Jr., Kurzeja, R.J., Wahl, R.C., Michelsen, K., Cupples, R., Chen, M., Wu, J., Sivits, G., Helmering, J. et al. (2013) Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors. Nature, 504, 437-440.
-
(2013)
Nature
, vol.504
, pp. 437-440
-
-
Lloyd, D.J.1
St Jean Jr, D.J.2
Kurzeja, R.J.3
Wahl, R.C.4
Michelsen, K.5
Cupples, R.6
Chen, M.7
Wu, J.8
Sivits, G.9
Helmering, J.10
-
26
-
-
84891719457
-
Glucose-induced dissociation of glucokinase from its regulatory protein in the nucleus of hepatocytes prior to nuclear export
-
Kaminski, M.T., Schultz, J., Waterstradt, R., Tiedge, M., Lenzen, S. and Baltrusch, S. (2013) Glucose-induced dissociation of glucokinase from its regulatory protein in the nucleus of hepatocytes prior to nuclear export. Biochim. Biophys. Acta, 1843, 554-564.
-
(2013)
Biochim. Biophys. Acta
, vol.1843
, pp. 554-564
-
-
Kaminski, M.T.1
Schultz, J.2
Waterstradt, R.3
Tiedge, M.4
Lenzen, S.5
Baltrusch, S.6
-
27
-
-
84895887627
-
A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease
-
Rees, M.G., Davis, M.I., Shen, M., Titus, S., Raimondo, A., Barrett, A., Gloyn, A.L., Collins, F.S. and Simeonov, A. (2014) A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease. PLoS One, 9, e89335.
-
(2014)
PLoS One
, vol.9
-
-
Rees, M.G.1
Davis, M.I.2
Shen, M.3
Titus, S.4
Raimondo, A.5
Barrett, A.6
Gloyn, A.L.7
Collins, F.S.8
Simeonov, A.9
-
28
-
-
25844494498
-
Interaction of glucokinase with the liver regulatory protein is conferred by leucine- asparagine motifs of the enzyme
-
Baltrusch, S., Francini, F., Lenzen, S. and Tiedge, M. (2005) Interaction of glucokinase with the liver regulatory protein is conferred by leucine- asparagine motifs of the enzyme. Diabetes, 54, 2829-2837.
-
(2005)
Diabetes
, vol.54
, pp. 2829-2837
-
-
Baltrusch, S.1
Francini, F.2
Lenzen, S.3
Tiedge, M.4
-
29
-
-
0029034723
-
Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme
-
Liang, Y., Kesavan, P., Wang, L.Q., Niswender, K., Tanizawa, Y., Permutt, M.A., Magnuson, M.A. and Matschinsky, F.M. (1995) Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem. J., 309(Pt 1), 167-173.
-
(1995)
Biochem. J.
, vol.309
, pp. 167-173
-
-
Liang, Y.1
Kesavan, P.2
Wang, L.Q.3
Niswender, K.4
Tanizawa, Y.5
Permutt, M.A.6
Magnuson, M.A.7
Matschinsky, F.M.8
-
30
-
-
20544439816
-
Piezo- and solenoid valve-based liquid dispensing for miniaturized assays
-
Niles, W.D. and Coassin, P.J. (2005) Piezo- and solenoid valve-based liquid dispensing for miniaturized assays. Assay Drug Dev. Technol., 3, 189-202.
-
(2005)
Assay Drug Dev. Technol.
, vol.3
, pp. 189-202
-
-
Niles, W.D.1
Coassin, P.J.2
-
31
-
-
84867498176
-
Label-free microscale thermophoresis discriminates sites and affinity of protein-ligand binding
-
Seidel, S.A., Wienken, C.J., Geissler, S., Jerabek-Willemsen, M., Duhr, S., Reiter, A., Trauner, D., Braun, D. and Baaske, P. (2012) Label-free microscale thermophoresis discriminates sites and affinity of protein-ligand binding. Angew. Chem. Int. Ed. Engl., 51, 10656-10659.
-
(2012)
Angew. Chem. Int. Ed. Engl.
, vol.51
, pp. 10656-10659
-
-
Seidel, S.A.1
Wienken, C.J.2
Geissler, S.3
Jerabek-Willemsen, M.4
Duhr, S.5
Reiter, A.6
Trauner, D.7
Braun, D.8
Baaske, P.9
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