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Items: 50

1.

AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.

Nikolaou N, Gathercole LL, Marchand L, Althari S, Dempster NJ, Green CJ, van de Bunt M, McNeil C, Arvaniti A, Hughes BA, Sgromo B, Gillies RS, Marschall HU, Penning TM, Ryan J, Arlt W, Hodson L, Tomlinson JW.

Metabolism. 2019 Jul 19;99:67-80. doi: 10.1016/j.metabol.2019.153947. [Epub ahead of print]

2.

Diabetes causes marked inhibition of mitochondrial metabolism in pancreatic β-cells.

Haythorne E, Rohm M, van de Bunt M, Brereton MF, Tarasov AI, Blacker TS, Sachse G, Silva Dos Santos M, Terron Exposito R, Davis S, Baba O, Fischer R, Duchen MR, Rorsman P, MacRae JI, Ashcroft FM.

Nat Commun. 2019 Jun 6;10(1):2474. doi: 10.1038/s41467-019-10189-x.

3.

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data.

Fernández-Tajes J, Gaulton KJ, van de Bunt M, Torres J, Thurner M, Mahajan A, Gloyn AL, Lage K, McCarthy MI.

Genome Med. 2019 Mar 26;11(1):19. doi: 10.1186/s13073-019-0628-8.

4.

Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells.

Hastoy B, Godazgar M, Clark A, Nylander V, Spiliotis I, van de Bunt M, Chibalina MV, Barrett A, Burrows C, Tarasov AI, Scharfmann R, Gloyn AL, Rorsman P.

Sci Rep. 2018 Nov 19;8(1):16994. doi: 10.1038/s41598-018-34743-7.

5.

Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling.

Ramond C, Beydag-Tasöz BS, Azad A, van de Bunt M, Petersen MBK, Beer NL, Glaser N, Berthault C, Gloyn AL, Hansson M, McCarthy MI, Honoré C, Grapin-Botton A, Scharfmann R.

Development. 2018 Aug 15;145(16). pii: dev165480. doi: 10.1242/dev.165480.

6.

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.

Gamazon ER, Segrè AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J; GTEx Consortium, Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG.

Nat Genet. 2018 Jul;50(7):956-967. doi: 10.1038/s41588-018-0154-4. Epub 2018 Jun 28.

7.

Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition.

Perez-Alcantara M, Honoré C, Wesolowska-Andersen A, Gloyn AL, McCarthy MI, Hansson M, Beer NL, van de Bunt M.

Diabetologia. 2018 Jul;61(7):1614-1622. doi: 10.1007/s00125-018-4612-4. Epub 2018 Apr 19.

8.

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.

Thurner M, van de Bunt M, Torres JM, Mahajan A, Nylander V, Bennett AJ, Gaulton KJ, Barrett A, Burrows C, Bell CG, Lowe R, Beck S, Rakyan VK, Gloyn AL, McCarthy MI.

Elife. 2018 Feb 7;7. pii: e31977. doi: 10.7554/eLife.31977.

9.

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Mohlke KL, Meitinger T, Groop L, Abecasis G, Scott LJ, Morris AP, Kang HM, Altshuler D, Burtt NP, Florez JC, Boehnke M, McCarthy MI.

Sci Data. 2018 Jan 23;5:180002. doi: 10.1038/sdata.2018.2.

10.

Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study.

Gudmundsdottir V, Pedersen HK, Allebrandt KV, Brorsson C, van Leeuwen N, Banasik K, Mahajan A, Groves CJ, van de Bunt M, Dawed AY, Fritsche A, Staiger H, Simonis-Bik AMC, Deelen J, Kramer MHH, Dietrich A, Hübschle T, Willemsen G, Häring HU, de Geus EJC, Boomsma DI, Eekhoff EMW, Ferrer J, McCarthy MI, Pearson ER, Gupta R, Brunak S, 't Hart LM.

PLoS One. 2018 Jan 2;13(1):e0189886. doi: 10.1371/journal.pone.0189886. eCollection 2018.

11.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JC, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Mohlke KL, Meitinger T, Groop L, Abecasis G, Scott LJ, Morris AP, Kang HM, Altshuler D, Burtt NP, Florez JC, Boehnke M, McCarthy MI.

Sci Data. 2017 Dec 19;4:170179. doi: 10.1038/sdata.2017.179. Erratum in: Sci Data. 2018 Jan 23;5:180002.

12.

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, Flannick J, Fuchsberger C, Gamazon ER, Gaulton KJ, Im HK, Teslovich TM, Blackwell TW, Bork-Jensen J, Burtt NP, Chen Y, Green T, Hartl C, Kang HM, Kumar A, Ladenvall C, Ma C, Moutsianas L, Pearson RD, Perry JRB, Rayner NW, Robertson NR, Scott LJ, van de Bunt M, Eriksson JG, Jula A, Koskinen S, Lehtimäki T, Palotie A, Raitakari OT, Jacobs SBR, Wessel J, Chu AY, Scott RA, Goodarzi MO, Blancher C, Buck G, Buck D, Chines PS, Gabriel S, Gjesing AP, Groves CJ, Hollensted M, Huyghe JR, Jackson AU, Jun G, Justesen JM, Mangino M, Murphy J, Neville M, Onofrio R, Small KS, Stringham HM, Trakalo J, Banks E, Carey J, Carneiro MO, DePristo M, Farjoun Y, Fennell T, Goldstein JI, Grant G, Hrabé de Angelis M, Maguire J, Neale BM, Poplin R, Purcell S, Schwarzmayr T, Shakir K, Smith JD, Strom TM, Wieland T, Lindstrom J, Brandslund I, Christensen C, Surdulescu GL, Lakka TA, Doney ASF, Nilsson P, Wareham NJ, Langenberg C, Varga TV, Franks PW, Rolandsson O, Rosengren AH, Farook VS, Thameem F, Puppala S, Kumar S, Lehman DM, Jenkinson CP, Curran JE, Hale DE, Fowler SP, Arya R, DeFronzo RA, Abboud HE, Syvänen AC, Hicks PJ, Palmer ND, Ng MCY, Bowden DW, Freedman BI, Esko T, Mägi R, Milani L, Mihailov E, Metspalu A, Narisu N, Kinnunen L, Bonnycastle LL, Swift A, Pasko D, Wood AR, Fadista J, Pollin TI, Barzilai N, Atzmon G, Glaser B, Thorand B, Strauch K, Peters A, Roden M, Müller-Nurasyid M, Liang L, Kriebel J, Illig T, Grallert H, Gieger C, Meisinger C, Lannfelt L, Musani SK, Griswold M, Taylor HA Jr, Wilson G Sr, Correa A, Oksa H, Scott WR, Afzal U, Tan ST, Loh M, Chambers JC, Sehmi J, Kooner JS, Lehne B, Cho YS, Lee JY, Han BG, Käräjämäki A, Qi Q, Qi L, Huang J, Hu FB, Melander O, Orho-Melander M, Below JE, Aguilar D, Wong TY, Liu J, Khor CC, Chia KS, Lim WY, Cheng CY, Chan E, Tai ES, Aung T, Linneberg A, Isomaa B, Meitinger T, Tuomi T, Hakaste L, Kravic J, Jørgensen ME, Lauritzen T, Deloukas P, Stirrups KE, Owen KR, Farmer AJ, Frayling TM, O'Rahilly SP, Walker M, Levy JC, Hodgkiss D, Hattersley AT, Kuulasmaa T, Stančáková A, Barroso I, Bharadwaj D, Chan J, Chandak GR, Daly MJ, Donnelly PJ, Ebrahim SB, Elliott P, Fingerlin T, Froguel P, Hu C, Jia W, Ma RCW, McVean G, Park T, Prabhakaran D, Sandhu M, Scott J, Sladek R, Tandon N, Teo YY, Zeggini E, Watanabe RM, Koistinen HA, Kesaniemi YA, Uusitupa M, Spector TD, Salomaa V, Rauramaa R, Palmer CNA, Prokopenko I, Morris AD, Bergman RN, Collins FS, Lind L, Ingelsson E, Tuomilehto J, Karpe F, Groop L, Jørgensen T, Hansen T, Pedersen O, Kuusisto J, Abecasis G, Bell GI, Blangero J, Cox NJ, Duggirala R, Seielstad M, Wilson JG, Dupuis J, Ripatti S, Hanis CL, Florez JC, Mohlke KL, Meigs JB, Laakso M, Morris AP, Boehnke M, Altshuler D, McCarthy MI, Gloyn AL, Lindgren CM.

Diabetes. 2017 Jul;66(7):2019-2032. doi: 10.2337/db16-1329. Epub 2017 Mar 24.

13.

Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, Rolfe EL, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium; Cambridge FPLD1 Consortium, Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB, Langenberg C, O'Rahilly S, Scott RA.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317c. No abstract available.

PMID:
28138151
14.

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice.

Carrat GR, Hu M, Nguyen-Tu MS, Chabosseau P, Gaulton KJ, van de Bunt M, Siddiq A, Falchi M, Thurner M, Canouil M, Pattou F, Leclerc I, Pullen TJ, Cane MC, Prabhala P, Greenwald W, Schulte A, Marchetti P, Ibberson M, MacDonald PE, Manning Fox JE, Gloyn AL, Froguel P, Solimena M, McCarthy MI, Rutter GA.

Am J Hum Genet. 2017 Feb 2;100(2):238-256. doi: 10.1016/j.ajhg.2017.01.011. Epub 2017 Jan 26.

15.

Colocalization of GWAS and eQTL Signals Detects Target Genes.

Hormozdiari F, van de Bunt M, Segrè AV, Li X, Joo JWJ, Bilow M, Sul JH, Sankararaman S, Pasaniuc B, Eskin E.

Am J Hum Genet. 2016 Dec 1;99(6):1245-1260. doi: 10.1016/j.ajhg.2016.10.003. Epub 2016 Nov 17.

16.

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, De Lucia Rolfe E, Stewart ID, Wheeler E, Willems SM, Adams C, Yaghootkar H; EPIC-InterAct Consortium; Cambridge FPLD1 Consortium, Forouhi NG, Khaw KT, Johnson AD, Semple RK, Frayling T, Perry JR, Dermitzakis E, McCarthy MI, Barroso I, Wareham NJ, Savage DB, Langenberg C, O'Rahilly S, Scott RA.

Nat Genet. 2017 Jan;49(1):17-26. doi: 10.1038/ng.3714. Epub 2016 Nov 14.

17.

An alternative effector gene at the type 2 diabetes-associated TCF7L2 locus?

van de Bunt M.

Diabetologia. 2016 Nov;59(11):2292-2294. doi: 10.1007/s00125-016-4103-4. Epub 2016 Sep 14. No abstract available.

PMID:
27623948
18.

Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.

Thomsen SK, Ceroni A, van de Bunt M, Burrows C, Barrett A, Scharfmann R, Ebner D, McCarthy MI, Gloyn AL.

Diabetes. 2016 Dec;65(12):3805-3811. Epub 2016 Aug 23.

19.

The genetic architecture of type 2 diabetes.

Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, van der Schouw YT, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA Jr, Thameem F, Wilson G Sr, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Burtt NP, Mohlke KL, Meitinger T, Groop L, Abecasis G, Florez JC, Scott LJ, Morris AP, Kang HM, Boehnke M, Altshuler D, McCarthy MI.

Nature. 2016 Aug 4;536(7614):41-47. doi: 10.1038/nature18642. Epub 2016 Jul 11.

20.

Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model.

van de Bunt M, Lako M, Barrett A, Gloyn AL, Hansson M, McCarthy MI, Beer NL, Honoré C.

Islets. 2016 Apr 18;8(3):83-95. doi: 10.1080/19382014.2016.1182276.

21.

Reduced Insulin Production Relieves Endoplasmic Reticulum Stress and Induces β Cell Proliferation.

Szabat M, Page MM, Panzhinskiy E, Skovsø S, Mojibian M, Fernandez-Tajes J, Bruin JE, Bround MJ, Lee JT, Xu EE, Taghizadeh F, O'Dwyer S, van de Bunt M, Moon KM, Sinha S, Han J, Fan Y, Lynn FC, Trucco M, Borchers CH, Foster LJ, Nislow C, Kieffer TJ, Johnson JD.

Cell Metab. 2016 Jan 12;23(1):179-93. doi: 10.1016/j.cmet.2015.10.016. Epub 2015 Nov 25.

22.

Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.

van de Bunt M, Manning Fox JE, Dai X, Barrett A, Grey C, Li L, Bennett AJ, Johnson PR, Rajotte RV, Gaulton KJ, Dermitzakis ET, MacDonald PE, McCarthy MI, Gloyn AL.

PLoS Genet. 2015 Dec 1;11(12):e1005694. doi: 10.1371/journal.pgen.1005694. eCollection 2015 Dec.

23.

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, Scott RA, Prokopenko I, Scott LJ, Green T, Sparso T, Thuillier D, Yengo L, Grallert H, Wahl S, Frånberg M, Strawbridge RJ, Kestler H, Chheda H, Eisele L, Gustafsson S, Steinthorsdottir V, Thorleifsson G, Qi L, Karssen LC, van Leeuwen EM, Willems SM, Li M, Chen H, Fuchsberger C, Kwan P, Ma C, Linderman M, Lu Y, Thomsen SK, Rundle JK, Beer NL, van de Bunt M, Chalisey A, Kang HM, Voight BF, Abecasis GR, Almgren P, Baldassarre D, Balkau B, Benediktsson R, Blüher M, Boeing H, Bonnycastle LL, Bottinger EP, Burtt NP, Carey J, Charpentier G, Chines PS, Cornelis MC, Couper DJ, Crenshaw AT, van Dam RM, Doney AS, Dorkhan M, Edkins S, Eriksson JG, Esko T, Eury E, Fadista J, Flannick J, Fontanillas P, Fox C, Franks PW, Gertow K, Gieger C, Gigante B, Gottesman O, Grant GB, Grarup N, Groves CJ, Hassinen M, Have CT, Herder C, Holmen OL, Hreidarsson AB, Humphries SE, Hunter DJ, Jackson AU, Jonsson A, Jørgensen ME, Jørgensen T, Kao WH, Kerrison ND, Kinnunen L, Klopp N, Kong A, Kovacs P, Kraft P, Kravic J, Langford C, Leander K, Liang L, Lichtner P, Lindgren CM, Lindholm E, Linneberg A, Liu CT, Lobbens S, Luan J, Lyssenko V, Männistö S, McLeod O, Meyer J, Mihailov E, Mirza G, Mühleisen TW, Müller-Nurasyid M, Navarro C, Nöthen MM, Oskolkov NN, Owen KR, Palli D, Pechlivanis S, Peltonen L, Perry JR, Platou CG, Roden M, Ruderfer D, Rybin D, van der Schouw YT, Sennblad B, Sigurðsson G, Stančáková A, Steinbach G, Storm P, Strauch K, Stringham HM, Sun Q, Thorand B, Tikkanen E, Tonjes A, Trakalo J, Tremoli E, Tuomi T, Wennauer R, Wiltshire S, Wood AR, Zeggini E, Dunham I, Birney E, Pasquali L, Ferrer J, Loos RJ, Dupuis J, Florez JC, Boerwinkle E, Pankow JS, van Duijn C, Sijbrands E, Meigs JB, Hu FB, Thorsteinsdottir U, Stefansson K, Lakka TA, Rauramaa R, Stumvoll M, Pedersen NL, Lind L, Keinanen-Kiukaanniemi SM, Korpi-Hyövälti E, Saaristo TE, Saltevo J, Kuusisto J, Laakso M, Metspalu A, Erbel R, Jöcke KH, Moebus S, Ripatti S, Salomaa V, Ingelsson E, Boehm BO, Bergman RN, Collins FS, Mohlke KL, Koistinen H, Tuomilehto J, Hveem K, Njølstad I, Deloukas P, Donnelly PJ, Frayling TM, Hattersley AT, de Faire U, Hamsten A, Illig T, Peters A, Cauchi S, Sladek R, Froguel P, Hansen T, Pedersen O, Morris AD, Palmer CN, Kathiresan S, Melander O, Nilsson PM, Groop LC, Barroso I, Langenberg C, Wareham NJ, O'Callaghan CA, Gloyn AL, Altshuler D, Boehnke M, Teslovich TM, McCarthy MI, Morris AP; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium.

Nat Genet. 2015 Dec;47(12):1415-25. doi: 10.1038/ng.3437. Epub 2015 Nov 9.

24.

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci.

van de Bunt M, Cortes A; IGAS Consortium, Brown MA, Morris AP, McCarthy MI.

PLoS Genet. 2015 Sep 25;11(9):e1005535. doi: 10.1371/journal.pgen.1005535. eCollection 2015.

25.

Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells.

Ferdaoussi M, Dai X, Jensen MV, Wang R, Peterson BS, Huang C, Ilkayeva O, Smith N, Miller N, Hajmrle C, Spigelman AF, Wright RC, Plummer G, Suzuki K, Mackay JP, van de Bunt M, Gloyn AL, Ryan TE, Norquay LD, Brosnan MJ, Trimmer JK, Rolph TP, Kibbey RG, Manning Fox JE, Colmers WF, Shirihai OS, Neufer PD, Yeh ET, Newgard CB, MacDonald PE.

J Clin Invest. 2015 Oct 1;125(10):3847-60. doi: 10.1172/JCI82498. Epub 2015 Sep 21.

26.

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.

Horikoshi M, Mӓgi R, van de Bunt M, Surakka I, Sarin AP, Mahajan A, Marullo L, Thorleifsson G, Hӓgg S, Hottenga JJ, Ladenvall C, Ried JS, Winkler TW, Willems SM, Pervjakova N, Esko T, Beekman M, Nelson CP, Willenborg C, Wiltshire S, Ferreira T, Fernandez J, Gaulton KJ, Steinthorsdottir V, Hamsten A, Magnusson PK, Willemsen G, Milaneschi Y, Robertson NR, Groves CJ, Bennett AJ, Lehtimӓki T, Viikari JS, Rung J, Lyssenko V, Perola M, Heid IM, Herder C, Grallert H, Müller-Nurasyid M, Roden M, Hypponen E, Isaacs A, van Leeuwen EM, Karssen LC, Mihailov E, Houwing-Duistermaat JJ, de Craen AJ, Deelen J, Havulinna AS, Blades M, Hengstenberg C, Erdmann J, Schunkert H, Kaprio J, Tobin MD, Samani NJ, Lind L, Salomaa V, Lindgren CM, Slagboom PE, Metspalu A, van Duijn CM, Eriksson JG, Peters A, Gieger C, Jula A, Groop L, Raitakari OT, Power C, Penninx BW, de Geus E, Smit JH, Boomsma DI, Pedersen NL, Ingelsson E, Thorsteinsdottir U, Stefansson K, Ripatti S, Prokopenko I, McCarthy MI, Morris AP; ENGAGE Consortium.

PLoS Genet. 2015 Jul 1;11(7):e1005230. doi: 10.1371/journal.pgen.1005230. eCollection 2015 Jul.

27.

Human islet function following 20 years of cryogenic biobanking.

Manning Fox JE, Lyon J, Dai XQ, Wright RC, Hayward J, van de Bunt M, Kin T, Shapiro AM, McCarthy MI, Gloyn AL, Ungrin MD, Lakey JR, Kneteman NM, Warnock GL, Korbutt GS, Rajotte RV, MacDonald PE.

Diabetologia. 2015 Jul;58(7):1503-12. doi: 10.1007/s00125-015-3598-4. Epub 2015 May 1.

28.

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium, Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium.

Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11.

29.

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.

Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, Lahti J, Simmonds MJ, Husemoen LL, Freathy RM, Shields BM, Pietzner D, Nagy R, Broer L, Chaker L, Korevaar TI, Plia MG, Sala C, Völker U, Richards JB, Sweep FC, Gieger C, Corre T, Kajantie E, Thuesen B, Taes YE, Visser WE, Hattersley AT, Kratzsch J, Hamilton A, Li W, Homuth G, Lobina M, Mariotti S, Soranzo N, Cocca M, Nauck M, Spielhagen C, Ross A, Arnold A, van de Bunt M, Liyanarachchi S, Heier M, Grabe HJ, Masciullo C, Galesloot TE, Lim EM, Reischl E, Leedman PJ, Lai S, Delitala A, Bremner AP, Philips DI, Beilby JP, Mulas A, Vocale M, Abecasis G, Forsen T, James A, Widen E, Hui J, Prokisch H, Rietzschel EE, Palotie A, Feddema P, Fletcher SJ, Schramm K, Rotter JI, Kluttig A, Radke D, Traglia M, Surdulescu GL, He H, Franklyn JA, Tiller D, Vaidya B, de Meyer T, Jørgensen T, Eriksson JG, O'Leary PC, Wichmann E, Hermus AR, Psaty BM, Ittermann T, Hofman A, Bosi E, Schlessinger D, Wallaschofski H, Pirastu N, Aulchenko YS, de la Chapelle A, Netea-Maier RT, Gough SC, Meyer Zu Schwabedissen H, Frayling TM, Kaufman JM, Linneberg A, Räikkönen K, Smit JW, Kiemeney LA, Rivadeneira F, Uitterlinden AG, Walsh JP, Meisinger C, den Heijer M, Visser TJ, Spector TD, Wilson SG, Völzke H, Cappola A, Toniolo D, Sanna S, Naitza S, Peeters RP.

PLoS Genet. 2014 Feb 27;10(2):e1004123. doi: 10.1371/journal.pgen.1004123. eCollection 2014 Feb.

30.

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.

Pasquali L, Gaulton KJ, Rodríguez-Seguí SA, Mularoni L, Miguel-Escalada I, Akerman İ, Tena JJ, Morán I, Gómez-Marín C, van de Bunt M, Ponsa-Cobas J, Castro N, Nammo T, Cebola I, García-Hurtado J, Maestro MA, Pattou F, Piemonti L, Berney T, Gloyn AL, Ravassard P, Skarmeta JLG, Müller F, McCarthy MI, Ferrer J.

Nat Genet. 2014 Feb;46(2):136-143. doi: 10.1038/ng.2870. Epub 2014 Jan 12.

31.

Argonaute2 mediates compensatory expansion of the pancreatic β cell.

Tattikota SG, Rathjen T, McAnulty SJ, Wessels HH, Akerman I, van de Bunt M, Hausser J, Esguerra JL, Musahl A, Pandey AK, You X, Chen W, Herrera PL, Johnson PR, O'Carroll D, Eliasson L, Zavolan M, Gloyn AL, Ferrer J, Shalom-Feuerstein R, Aberdam D, Poy MN.

Cell Metab. 2014 Jan 7;19(1):122-34. doi: 10.1016/j.cmet.2013.11.015. Epub 2013 Dec 19.

32.

Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors.

Andreassen OA, Djurovic S, Thompson WK, Schork AJ, Kendler KS, O'Donovan MC, Rujescu D, Werge T, van de Bunt M, Morris AP, McCarthy MI; International Consortium for Blood Pressure GWAS; Diabetes Genetics Replication and Meta-analysis Consortium; Psychiatric Genomics Consortium Schizophrenia Working Group, Roddey JC, McEvoy LK, Desikan RS, Dale AM.

Am J Hum Genet. 2013 Feb 7;92(2):197-209. doi: 10.1016/j.ajhg.2013.01.001. Epub 2013 Jan 31.

33.

The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis.

van de Bunt M, Gaulton KJ, Parts L, Moran I, Johnson PR, Lindgren CM, Ferrer J, Gloyn AL, McCarthy MI.

PLoS One. 2013;8(1):e55272. doi: 10.1371/journal.pone.0055272. Epub 2013 Jan 25.

34.

Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes.

Morán I, Akerman I, van de Bunt M, Xie R, Benazra M, Nammo T, Arnes L, Nakić N, García-Hurtado J, Rodríguez-Seguí S, Pasquali L, Sauty-Colace C, Beucher A, Scharfmann R, van Arensbergen J, Johnson PR, Berry A, Lee C, Harkins T, Gmyr V, Pattou F, Kerr-Conte J, Piemonti L, Berney T, Hanley N, Gloyn AL, Sussel L, Langman L, Brayman KL, Sander M, McCarthy MI, Ravassard P, Ferrer J.

Cell Metab. 2012 Oct 3;16(4):435-48. doi: 10.1016/j.cmet.2012.08.010.

35.

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

Pal A, Barber TM, Van de Bunt M, Rudge SA, Zhang Q, Lachlan KL, Cooper NS, Linden H, Levy JC, Wakelam MJ, Walker L, Karpe F, Gloyn AL.

N Engl J Med. 2012 Sep 13;367(11):1002-11. doi: 10.1056/NEJMoa1113966.

36.

SSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells.

Kailey B, van de Bunt M, Cheley S, Johnson PR, MacDonald PE, Gloyn AL, Rorsman P, Braun M.

Am J Physiol Endocrinol Metab. 2012 Nov 1;303(9):E1107-16. doi: 10.1152/ajpendo.00207.2012. Epub 2012 Aug 28.

37.

A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell.

van de Bunt M, Gloyn AL.

Diabetologia. 2012 Sep;55(9):2312-5. doi: 10.1007/s00125-012-2612-3. Epub 2012 Jun 15.

PMID:
22696037
38.

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL.

Diabetes Care. 2012 Jul;35(7):1482-4. doi: 10.2337/dc11-2420. Epub 2012 May 18.

39.

Extent, causes, and consequences of small RNA expression variation in human adipose tissue.

Parts L, Hedman ÅK, Keildson S, Knights AJ, Abreu-Goodger C, van de Bunt M, Guerra-Assunção JA, Bartonicek N, van Dongen S, Mägi R, Nisbet J, Barrett A, Rantalainen M, Nica AC, Quail MA, Small KS, Glass D, Enright AJ, Winn J; MuTHER Consortium, Deloukas P, Dermitzakis ET, McCarthy MI, Spector TD, Durbin R, Lindgren CM.

PLoS Genet. 2012;8(5):e1002704. doi: 10.1371/journal.pgen.1002704. Epub 2012 May 10.

40.

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Valentínová L, Beer NL, Staník J, Tribble ND, van de Bunt M, Hučková M, Barrett A, Klimeš I, Gašperíková D, Gloyn AL.

PLoS One. 2012;7(4):e34541. doi: 10.1371/journal.pone.0034541. Epub 2012 Apr 6.

41.

GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.

McCulloch LJ, van de Bunt M, Braun M, Frayn KN, Clark A, Gloyn AL.

Mol Genet Metab. 2011 Dec;104(4):648-53. doi: 10.1016/j.ymgme.2011.08.026. Epub 2011 Aug 28.

PMID:
21920790
42.

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL.

J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29.

43.

From genetic association to molecular mechanism.

van de Bunt M, Gloyn AL.

Curr Diab Rep. 2010 Dec;10(6):452-66. doi: 10.1007/s11892-010-0150-2. Review.

PMID:
20878272
44.

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.

Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL.

Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1.

45.

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, Holman RR.

Diabetologia. 2009 Jan;52(1):172-4. doi: 10.1007/s00125-008-1188-4. Epub 2008 Nov 11. No abstract available.

PMID:
19002431
46.

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.

Gloyn AL, Tribble ND, van de Bunt M, Barrett A, Johnson PR.

Biochem Soc Trans. 2008 Jun;36(Pt 3):306-11. doi: 10.1042/BST0360306.

PMID:
18481947
47.

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.

van de Bunt M, Edghill EL, Hussain K, Ellard S, Gloyn AL.

Mol Genet Metab. 2008 Jun;94(2):268-9. doi: 10.1016/j.ymgme.2008.01.008. Epub 2008 Mar 5. No abstract available.

48.

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL.

Diabet Med. 2007 Dec;24(12):1393-9. Epub 2007 Nov 1.

PMID:
17976205
49.

Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia.

van de Bunt M, Gloyn AL.

Per Med. 2007 Aug;4(3):247-259. doi: 10.2217/17410541.4.3.247.

PMID:
29788672
50.

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

Minton JAL, van de Bunt M, Boustred C, Hussain K, Hattersley AT, Ellard S, Gloyn AL.

Diabetologia. 2007 Sep;50(9):2019-2022. doi: 10.1007/s00125-007-0748-3. Epub 2007 Jul 6. No abstract available.

PMID:
17618412

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