-
1
-
-
77951089891
-
-
International Diabetes Federation
-
International Diabetes Federation IDF Diabetes Atlas 2011, 5th ed.
-
(2011)
IDF Diabetes Atlas
-
-
-
2
-
-
80053927394
-
Genetics of type 2 diabetes: the GWAS era and future perspectives
-
(Review)
-
Imamura M., Maeda S. Genetics of type 2 diabetes: the GWAS era and future perspectives. Endocr. J. 2011, 58:723-739. (Review).
-
(2011)
Endocr. J.
, vol.58
, pp. 723-739
-
-
Imamura, M.1
Maeda, S.2
-
3
-
-
77954143522
-
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
-
Voight B.F., Scott L.J., Steinthorsdottir V., Morris A.P., Dina C., Welch R.P., Zeggini E., Huth C., Aulchenko Y.S., Thorleifsson G., McCulloch L.J., Ferreira T., Grallert H., Amin N., Wu G., Willer C.J., Raychaudhuri S., McCarroll S.A., Langenberg C., Hofmann O.M., Dupuis J., Qi L., Segrè A.V., van Hoek M., Navarro P., Ardlie K., Balkau B., Benediktsson R., Bennett A.J., Blagieva R., Boerwinkle E., Bonnycastle L.L., Bengtsson Boström K., Bravenboer B., Bumpstead S., Burtt N.P., Charpentier G., Chines P.S., Cornelis M., Couper D.J., Crawford G., Doney A.S., Elliott K.S., Elliott A.L., Erdos M.R., Fox C.S., Franklin C.S., Ganser M., Gieger C., Grarup N., Green T., Griffin S., Groves C.J., Guiducci C., Hadjadj S., Hassanali N., Herder C., Isomaa B., Jackson A.U., Johnson P.R., Jørgensen T., Kao W.H., Klopp N., Kong A., Kraft P., Kuusisto J., Lauritzen T., Li M., Lieverse A., Lindgren C.M., Lyssenko V., Marre M., Meitinger T., Midthjell K., Morken M.A., Narisu N., Nilsson P., Owen K.R., Payne F., Perry J.R., Petersen A.K., Platou C., Proença C., Prokopenko I., Rathmann W., Rayner N.W., Robertson N.R., Rocheleau G., Roden M., Sampson M.J., Saxena R., Shields B.M., Shrader P., Sigurdsson G., Sparsø T., Strassburger K., Stringham H.M., Sun Q., Swift A.J., Thorand B., Tichet J., Tuomi T., van Dam R.M., van Haeften T.W., van Herpt T., van Vliet-Ostaptchouk J.V., Walters G.B., Weedon M.N., Wijmenga C., Witteman J., Bergman R.N., Cauchi S., Collins F.S., Gloyn A.L., Gyllensten U., Hansen T., Hide W.A., Hitman G.A., Hofman A., Hunter D.J., Hveem K., Laakso M., Mohlke K.L., Morris A.D., Palmer C.N., Pramstaller P.P., Rudan I., Sijbrands E., Stein L.D., Tuomilehto J., Uitterlinden A., Walker M., Wareham N.J., Watanabe R.M., Abecasis G.R., Boehm B.O., Campbell H., Daly M.J., Hattersley A.T., Hu F.B., Meigs J.B., Pankow J.S., Pedersen O., Wichmann H.E., Barroso I., Florez J.C., Frayling T.M., Groop L., Sladek R., Thorsteinsdottir U., Wilson J.F., Illig T., Froguel P., van Duijn C.M., Stefansson K., Altshuler D., Boehnke M., McCarthy M.I., M.investigators, G. Consortium Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat. Genet. 2010, 42:579-589.
-
(2010)
Nat. Genet.
, vol.42
, pp. 579-589
-
-
Voight, B.F.1
Scott, L.J.2
Steinthorsdottir, V.3
Morris, A.P.4
Dina, C.5
Welch, R.P.6
Zeggini, E.7
Huth, C.8
Aulchenko, Y.S.9
Thorleifsson, G.10
McCulloch, L.J.11
Ferreira, T.12
Grallert, H.13
Amin, N.14
Wu, G.15
Willer, C.J.16
Raychaudhuri, S.17
McCarroll, S.A.18
Langenberg, C.19
Hofmann, O.M.20
Dupuis, J.21
Qi, L.22
Segrè, A.V.23
van Hoek, M.24
Navarro, P.25
Ardlie, K.26
Balkau, B.27
Benediktsson, R.28
Bennett, A.J.29
Blagieva, R.30
Boerwinkle, E.31
Bonnycastle, L.L.32
Bengtsson Boström, K.33
Bravenboer, B.34
Bumpstead, S.35
Burtt, N.P.36
Charpentier, G.37
Chines, P.S.38
Cornelis, M.39
Couper, D.J.40
Crawford, G.41
Doney, A.S.42
Elliott, K.S.43
Elliott, A.L.44
Erdos, M.R.45
Fox, C.S.46
Franklin, C.S.47
Ganser, M.48
Gieger, C.49
Grarup, N.50
Green, T.51
Griffin, S.52
Groves, C.J.53
Guiducci, C.54
Hadjadj, S.55
Hassanali, N.56
Herder, C.57
Isomaa, B.58
Jackson, A.U.59
Johnson, P.R.60
Jørgensen, T.61
Kao, W.H.62
Klopp, N.63
Kong, A.64
Kraft, P.65
Kuusisto, J.66
Lauritzen, T.67
Li, M.68
Lieverse, A.69
Lindgren, C.M.70
Lyssenko, V.71
Marre, M.72
Meitinger, T.73
Midthjell, K.74
Morken, M.A.75
Narisu, N.76
Nilsson, P.77
Owen, K.R.78
Payne, F.79
Perry, J.R.80
Petersen, A.K.81
Platou, C.82
Proença, C.83
Prokopenko, I.84
Rathmann, W.85
Rayner, N.W.86
Robertson, N.R.87
Rocheleau, G.88
Roden, M.89
Sampson, M.J.90
Saxena, R.91
Shields, B.M.92
Shrader, P.93
Sigurdsson, G.94
Sparsø, T.95
Strassburger, K.96
Stringham, H.M.97
Sun, Q.98
Swift, A.J.99
more..
-
4
-
-
66249089500
-
Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association
-
Miyake K., Yang W., Hara K., Yasuda K., Horikawa Y., Osawa H., Furuta H., Ng M.C., Hirota Y., Mori H., Ido K., Yamagata K., Hinokio Y., Oka Y., Iwasaki N., Iwamoto Y., Yamada Y., Seino Y., Maegawa H., Kashiwagi A., Wang H.Y., Tanahashi T., Nakamura N., Takeda J., Maeda E., Yamamoto K., Tokunaga K., Ma R.C., So W.Y., Chan J.C., Kamatani N., Makino H., Nanjo K., Kadowaki T., Kasuga M. Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association. J. Hum. Genet. 2009, 54:236-241.
-
(2009)
J. Hum. Genet.
, vol.54
, pp. 236-241
-
-
Miyake, K.1
Yang, W.2
Hara, K.3
Yasuda, K.4
Horikawa, Y.5
Osawa, H.6
Furuta, H.7
Ng, M.C.8
Hirota, Y.9
Mori, H.10
Ido, K.11
Yamagata, K.12
Hinokio, Y.13
Oka, Y.14
Iwasaki, N.15
Iwamoto, Y.16
Yamada, Y.17
Seino, Y.18
Maegawa, H.19
Kashiwagi, A.20
Wang, H.Y.21
Tanahashi, T.22
Nakamura, N.23
Takeda, J.24
Maeda, E.25
Yamamoto, K.26
Tokunaga, K.27
Ma, R.C.28
So, W.Y.29
Chan, J.C.30
Kamatani, N.31
Makino, H.32
Nanjo, K.33
Kadowaki, T.34
Kasuga, M.35
more..
-
5
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W., Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 2008, 40:695-701.
-
(2008)
Nat. Genet.
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
6
-
-
79960608326
-
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development
-
Liu W., Morito D., Takashima S., Mineharu Y., Kobayashi H., Hitomi T., Hashikata H., Matsuura N., Yamazaki S., Toyoda A., Kikuta K., Takagi Y., Harada K.H., Fujiyama A., Herzig R., Krischek B., Zou L., Kim J.E., Kitakaze M., Miyamoto S., Nagata K., Hashimoto N., Koizumi A. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 2011, 6:e22542.
-
(2011)
PLoS One
, vol.6
-
-
Liu, W.1
Morito, D.2
Takashima, S.3
Mineharu, Y.4
Kobayashi, H.5
Hitomi, T.6
Hashikata, H.7
Matsuura, N.8
Yamazaki, S.9
Toyoda, A.10
Kikuta, K.11
Takagi, Y.12
Harada, K.H.13
Fujiyama, A.14
Herzig, R.15
Krischek, B.16
Zou, L.17
Kim, J.E.18
Kitakaze, M.19
Miyamoto, S.20
Nagata, K.21
Hashimoto, N.22
Koizumi, A.23
more..
-
7
-
-
0344441420
-
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY)
-
Yamagata K. Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY). Endocr. J. 2003, 50:491-499.
-
(2003)
Endocr. J.
, vol.50
, pp. 491-499
-
-
Yamagata, K.1
-
8
-
-
84856396796
-
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus
-
Yorifuji T., Fujimaru R., Hosokawa Y., Tamagawa N., Shiozaki M., Aizu K., Jinno K., Maruo Y., Nagasaka H., Tajima T., Kobayashi K., Urakami T. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr. Diabetes 2012, 13:26-32.
-
(2012)
Pediatr. Diabetes
, vol.13
, pp. 26-32
-
-
Yorifuji, T.1
Fujimaru, R.2
Hosokawa, Y.3
Tamagawa, N.4
Shiozaki, M.5
Aizu, K.6
Jinno, K.7
Maruo, Y.8
Nagasaka, H.9
Tajima, T.10
Kobayashi, K.11
Urakami, T.12
-
9
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad M.J., Ng S.B., Bigham A.W., Tabor H.K., Emond M.J., Nickerson D.A., Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 2011, 12:745-755.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
10
-
-
47549107079
-
A new look at screening and diagnosing diabetes mellitus
-
Saudek C.D., Herman W.H., Sacks D.B., Bergenstal R.M., Edelman D., Davidson M.B. A new look at screening and diagnosing diabetes mellitus. J. Clin. Endocrinol. Metab. 2008, 93:2447-2453.
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 2447-2453
-
-
Saudek, C.D.1
Herman, W.H.2
Sacks, D.B.3
Bergenstal, R.M.4
Edelman, D.5
Davidson, M.B.6
-
11
-
-
41149139275
-
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
-
E.M.G.Q.N.E.M. group
-
Ellard S., Bellanné-Chantelot C., Hattersley A.T., E.M.G.Q.N.E.M. group Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008, 51:546-553.
-
(2008)
Diabetologia
, vol.51
, pp. 546-553
-
-
Ellard, S.1
Bellanné-Chantelot, C.2
Hattersley, A.T.3
-
12
-
-
0029886532
-
Parametric and nonparametric linkage analysis: a unified multipoint approach
-
Kruglyak L., Daly M.J., Reeve-Daly M.P., Lander E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 1996, 58:1347-1363.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
13
-
-
0038632115
-
T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects
-
Zhu Q., Yamagata K., Miura A., Shihara N., Horikawa Y., Takeda J., Miyagawa J., Matsuzawa Y. T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects. Diabetologia 2003, 46:567-573.
-
(2003)
Diabetologia
, vol.46
, pp. 567-573
-
-
Zhu, Q.1
Yamagata, K.2
Miura, A.3
Shihara, N.4
Horikawa, Y.5
Takeda, J.6
Miyagawa, J.7
Matsuzawa, Y.8
-
14
-
-
78149439208
-
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome
-
Bonnefond A., Durand E., Sand O., De Graeve F., Gallina S., Busiah K., Lobbens S., Simon A., Bellanné-Chantelot C., Létourneau L., Scharfmann R., Delplanque J., Sladek R., Polak M., Vaxillaire M., Froguel P. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One 2010, 5:e13630.
-
(2010)
PLoS One
, vol.5
-
-
Bonnefond, A.1
Durand, E.2
Sand, O.3
De Graeve, F.4
Gallina, S.5
Busiah, K.6
Lobbens, S.7
Simon, A.8
Bellanné-Chantelot, C.9
Létourneau, L.10
Scharfmann, R.11
Delplanque, J.12
Sladek, R.13
Polak, M.14
Vaxillaire, M.15
Froguel, P.16
-
15
-
-
84861476229
-
Exome sequencing and genetic testing for MODY
-
Johansson S., Irgens H., Chudasama K.K., Molnes J., Aerts J., Roque F.S., Jonassen I., Levy S., Lima K., Knappskog P.M., Bell G.I., Molven A., Njølstad P.R. Exome sequencing and genetic testing for MODY. PLoS One 2012, 7:e38050.
-
(2012)
PLoS One
, vol.7
-
-
Johansson, S.1
Irgens, H.2
Chudasama, K.K.3
Molnes, J.4
Aerts, J.5
Roque, F.S.6
Jonassen, I.7
Levy, S.8
Lima, K.9
Knappskog, P.M.10
Bell, G.I.11
Molven, A.12
Njølstad, P.R.13
-
16
-
-
84862207587
-
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene
-
Bonnefond A., Philippe J., Durand E., Dechaume A., Huyvaert M., Montagne L., Marre M., Balkau B., Fajardy I., Vambergue A., Vatin V., Delplanque J., Le Guilcher D., De Graeve F., Lecoeur C., Sand O., Vaxillaire M., Froguel P. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS One 2012, 7:e37423.
-
(2012)
PLoS One
, vol.7
-
-
Bonnefond, A.1
Philippe, J.2
Durand, E.3
Dechaume, A.4
Huyvaert, M.5
Montagne, L.6
Marre, M.7
Balkau, B.8
Fajardy, I.9
Vambergue, A.10
Vatin, V.11
Delplanque, J.12
Le Guilcher, D.13
De Graeve, F.14
Lecoeur, C.15
Sand, O.16
Vaxillaire, M.17
Froguel, P.18
-
17
-
-
84855449720
-
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
-
Lieber D.S., Vafai S.B., Horton L.C., Slate N.G., Liu S., Borowsky M.L., Calvo S.E., Schmahmann J.D., Mootha V.K. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. BMC Med. Genet. 2012, 13:3.
-
(2012)
BMC Med. Genet.
, vol.13
, pp. 3
-
-
Lieber, D.S.1
Vafai, S.B.2
Horton, L.C.3
Slate, N.G.4
Liu, S.5
Borowsky, M.L.6
Calvo, S.E.7
Schmahmann, J.D.8
Mootha, V.K.9
-
18
-
-
0029030937
-
EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif
-
Mu F.T., Callaghan J.M., Steele-Mortimer O., Stenmark H., Parton R.G., Campbell P.L., McCluskey J., Yeo J.P., Tock E.P., Toh B.H. EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine "fingers" and contains a calmodulin-binding IQ motif. J. Biol. Chem. 1995, 270:13503-13511.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 13503-13511
-
-
Mu, F.T.1
Callaghan, J.M.2
Steele-Mortimer, O.3
Stenmark, H.4
Parton, R.G.5
Campbell, P.L.6
McCluskey, J.7
Yeo, J.P.8
Tock, E.P.9
Toh, B.H.10
-
19
-
-
0029846518
-
Endosomal localization of the autoantigen EEA1 is mediated by a zinc-binding FYVE finger
-
Stenmark H., Aasland R., Toh B.H., D'Arrigo A. Endosomal localization of the autoantigen EEA1 is mediated by a zinc-binding FYVE finger. J. Biol. Chem. 1996, 271:24048-24054.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 24048-24054
-
-
Stenmark, H.1
Aasland, R.2
Toh, B.H.3
D'Arrigo, A.4
-
20
-
-
0032581654
-
EEA1 links PI(3)K function to Rab5 regulation of endosome fusion
-
Simonsen A., Lippé R., Christoforidis S., Gaullier J.M., Brech A., Callaghan J., Toh B.H., Murphy C., Zerial M., Stenmark H. EEA1 links PI(3)K function to Rab5 regulation of endosome fusion. Nature 1998, 394:494-498.
-
(1998)
Nature
, vol.394
, pp. 494-498
-
-
Simonsen, A.1
Lippé, R.2
Christoforidis, S.3
Gaullier, J.M.4
Brech, A.5
Callaghan, J.6
Toh, B.H.7
Murphy, C.8
Zerial, M.9
Stenmark, H.10
-
21
-
-
0035930332
-
Multivalent endosome targeting by homodimeric EEA1
-
Dumas J.J., Merithew E., Sudharshan E., Rajamani D., Hayes S., Lawe D., Corvera S., Lambright D.G. Multivalent endosome targeting by homodimeric EEA1. Mol. Cell 2001, 8:947-958.
-
(2001)
Mol. Cell
, vol.8
, pp. 947-958
-
-
Dumas, J.J.1
Merithew, E.2
Sudharshan, E.3
Rajamani, D.4
Hayes, S.5
Lawe, D.6
Corvera, S.7
Lambright, D.G.8
-
22
-
-
79953779066
-
Knockdown of STEAP4 inhibits insulin-stimulated glucose transport and GLUT4 translocation via attenuated phosphorylation of Akt, independent of the effects of EEA1
-
Cheng R., Qiu J., Zhou X.Y., Chen X.H., Zhu C., Qin D.N., Wang J.W., Ni Y.H., Ji C.B., Guo X.R. Knockdown of STEAP4 inhibits insulin-stimulated glucose transport and GLUT4 translocation via attenuated phosphorylation of Akt, independent of the effects of EEA1. Mol. Med. Rep. 2011, 4:519-523.
-
(2011)
Mol. Med. Rep.
, vol.4
, pp. 519-523
-
-
Cheng, R.1
Qiu, J.2
Zhou, X.Y.3
Chen, X.H.4
Zhu, C.5
Qin, D.N.6
Wang, J.W.7
Ni, Y.H.8
Ji, C.B.9
Guo, X.R.10
-
23
-
-
78651320424
-
The UCSC genome browser database: update 2011
-
Fujita P.A., Rhead B., Zweig A.S., Hinrichs A.S., Karolchik D., Cline M.S., Goldman M., Barber G.P., Clawson H., Coelho A., Diekhans M., Dreszer T.R., Giardine B.M., Harte R.A., Hillman-Jackson J., Hsu F., Kirkup V., Kuhn R.M., Learned K., Li C.H., Meyer L.R., Pohl A., Raney B.J., Rosenbloom K.R., Smith K.E., Haussler D., Kent W.J. The UCSC genome browser database: update 2011. Nucleic Acids Res. 2011, 39:D876-D882.
-
(2011)
Nucleic Acids Res.
, vol.39
-
-
Fujita, P.A.1
Rhead, B.2
Zweig, A.S.3
Hinrichs, A.S.4
Karolchik, D.5
Cline, M.S.6
Goldman, M.7
Barber, G.P.8
Clawson, H.9
Coelho, A.10
Diekhans, M.11
Dreszer, T.R.12
Giardine, B.M.13
Harte, R.A.14
Hillman-Jackson, J.15
Hsu, F.16
Kirkup, V.17
Kuhn, R.M.18
Learned, K.19
Li, C.H.20
Meyer, L.R.21
Pohl, A.22
Raney, B.J.23
Rosenbloom, K.R.24
Smith, K.E.25
Haussler, D.26
Kent, W.J.27
more..
-
24
-
-
84856409929
-
Detection of structural variants and indels within exome data
-
Karakoc E., Alkan C., O'Roak B.J., Dennis M.Y., Vives L., Mark K., Rieder M.J., Nickerson D.A., Eichler E.E. Detection of structural variants and indels within exome data. Nat. Methods 2012, 9:176-178.
-
(2012)
Nat. Methods
, vol.9
, pp. 176-178
-
-
Karakoc, E.1
Alkan, C.2
O'Roak, B.J.3
Dennis, M.Y.4
Vives, L.5
Mark, K.6
Rieder, M.J.7
Nickerson, D.A.8
Eichler, E.E.9
-
25
-
-
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., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 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
-
26
-
-
77950864046
-
Human TMEM174 that is highly expressed in kidney tissue activates AP-1 and promotes cell proliferation
-
Wang P., Sun B., Hao D., Zhang X., Shi T., Ma D. Human TMEM174 that is highly expressed in kidney tissue activates AP-1 and promotes cell proliferation. Biochem. Biophys. Res. Commun. 2010, 394:993-999.
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.394
, pp. 993-999
-
-
Wang, P.1
Sun, B.2
Hao, D.3
Zhang, X.4
Shi, T.5
Ma, D.6
|