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Items: 24

1.

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, Nie C, Wu R, Skotte L, Morris AP, Ladenvall C, Cauchi S, Stančáková A, Andersen G, Astrup A, Banasik K, Bennett AJ, Bolund L, Charpentier G, Chen Y, Dekker JM, Doney AS, Dorkhan M, Forsen T, Frayling TM, Groves CJ, Gui Y, Hallmans G, Hattersley AT, He K, Hitman GA, Holmkvist J, Huang S, Jiang H, Jin X, Justesen JM, Kristiansen K, Kuusisto J, Lajer M, Lantieri O, Li W, Liang H, Liao Q, Liu X, Ma T, Ma X, Manijak MP, Marre M, Mokrosiński J, Morris AD, Mu B, Nielsen AA, Nijpels G, Nilsson P, Palmer CN, Rayner NW, Renström F, Ribel-Madsen R, Robertson N, Rolandsson O, Rossing P, Schwartz TW; D.E.S.I.R. Study Group, Slagboom PE, Sterner M; DIAGRAM Consortium, Tang M, Tarnow L, Tuomi T, van't Riet E, van Leeuwen N, Varga TV, Vestmar MA, Walker M, Wang B, Wang Y, Wu H, Xi F, Yengo L, Yu C, Zhang X, Zhang J, Zhang Q, Zhang W, Zheng H, Zhou Y, Altshuler D, 't Hart LM, Franks PW, Balkau B, Froguel P, McCarthy MI, Laakso M, Groop L, Christensen C, Brandslund I, Lauritzen T, Witte DR, Linneberg A, Jørgensen T, Hansen T, Wang J, Nielsen R, Pedersen O.

Diabetologia. 2013 Feb;56(2):298-310. doi: 10.1007/s00125-012-2756-1. Epub 2012 Nov 19.

2.

The frequent UCP2 -866G>A polymorphism protects against insulin resistance and is associated with obesity: a study of obesity and related metabolic traits among 17 636 Danes.

Andersen G, Dalgaard LT, Justesen JM, Anthonsen S, Nielsen T, Thørner LW, Witte D, Jørgensen T, Clausen JO, Lauritzen T, Holmkvist J, Hansen T, Pedersen O.

Int J Obes (Lond). 2013 Feb;37(2):175-81. doi: 10.1038/ijo.2012.22. Epub 2012 Feb 21.

PMID:
22349573
3.

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.

Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparsø T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jørgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J.

Nat Genet. 2010 Nov;42(11):969-72. doi: 10.1038/ng.680. Epub 2010 Oct 3.

PMID:
20890277
4.

Design of association studies with pooled or un-pooled next-generation sequencing data.

Kim SY, Li Y, Guo Y, Li R, Holmkvist J, Hansen T, Pedersen O, Wang J, Nielsen R.

Genet Epidemiol. 2010 Jul;34(5):479-91. doi: 10.1002/gepi.20501.

5.

MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans.

Andersson EA, Holst B, Sparsø T, Grarup N, Banasik K, Holmkvist J, Jørgensen T, Borch-Johnsen K, Egerod KL, Lauritzen T, Sørensen TI, Bonnefond A, Meyre D, Froguel P, Schwartz TW, Pedersen O, Hansen T.

Diabetes. 2010 Jun;59(6):1539-48. doi: 10.2337/db09-1757. Epub 2010 Mar 3.

6.

Impact of rs361072 in the phosphoinositide 3-kinase p110beta gene on whole-body glucose metabolism and subunit protein expression in skeletal muscle.

Ribel-Madsen R, Poulsen P, Holmkvist J, Mortensen B, Grarup N, Friedrichsen M, Jørgensen T, Lauritzen T, Wojtaszewski JF, Pedersen O, Hansen T, Vaag A.

Diabetes. 2010 Apr;59(4):1108-12. doi: 10.2337/db09-1359. Epub 2010 Jan 27.

7.

An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISA.

Cervin C, Axler O, Holmkvist J, Almgren P, Rantala E, Tuomi T, Groop L, Dahlbäck B, Karlsson E.

J Intern Med. 2010 Mar;267(3):316-21. doi: 10.1111/j.1365-2796.2009.02145.x. Epub 2009 Jun 22.

8.

Association of polymorphisms of the CHI3L1 gene with asthma and atopy: a populations-based study of 6514 Danish adults.

Rathcke CN, Holmkvist J, Husmoen LL, Hansen T, Pedersen O, Vestergaard H, Linneberg A.

PLoS One. 2009 Jul 1;4(7):e6106. doi: 10.1371/journal.pone.0006106.

9.

The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin release following an oral glucose load.

Holmkvist J, Banasik K, Andersen G, Unoki H, Jensen TS, Pisinger C, Borch-Johnsen K, Sandbaek A, Lauritzen T, Brunak S, Maeda S, Hansen T, Pedersen O.

PLoS One. 2009 Jun 11;4(6):e5872. doi: 10.1371/journal.pone.0005872.

10.

Variation in CHI3LI in relation to type 2 diabetes and related quantitative traits.

Rathcke CN, Holmkvist J, Jørgensen T, Borch-Johnsen K, Hansen T, Pedersen OB, Vestergaard H.

PLoS One. 2009;4(5):e5469. doi: 10.1371/journal.pone.0005469. Epub 2009 May 7.

11.

Combined analysis of 19 common validated type 2 diabetes susceptibility gene variants shows moderate discriminative value and no evidence of gene-gene interaction.

Sparsø T, Grarup N, Andreasen C, Albrechtsen A, Holmkvist J, Andersen G, Jørgensen T, Borch-Johnsen K, Sandbaek A, Lauritzen T, Madsbad S, Hansen T, Pedersen O.

Diabetologia. 2009 Jul;52(7):1308-14. doi: 10.1007/s00125-009-1362-3. Epub 2009 Apr 29.

PMID:
19404609
12.

G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans.

Sparsø T, Bonnefond A, Andersson E, Bouatia-Naji N, Holmkvist J, Wegner L, Grarup N, Gjesing AP, Banasik K, Cavalcanti-Proença C, Marchand M, Vaxillaire M, Charpentier G, Jarvelin MR, Tichet J, Balkau B, Marre M, Lévy-Marchal C, Faerch K, Borch-Johnsen K, Jørgensen T, Madsbad S, Poulsen P, Vaag A, Dina C, Hansen T, Pedersen O, Froguel P.

Diabetes. 2009 Jun;58(6):1450-6. doi: 10.2337/db08-1660. Epub 2009 Mar 26.

13.

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.

Bouatia-Naji N, Bonnefond A, Cavalcanti-Proença C, Sparsø T, Holmkvist J, Marchand M, Delplanque J, Lobbens S, Rocheleau G, Durand E, De Graeve F, Chèvre JC, Borch-Johnsen K, Hartikainen AL, Ruokonen A, Tichet J, Marre M, Weill J, Heude B, Tauber M, Lemaire K, Schuit F, Elliott P, Jørgensen T, Charpentier G, Hadjadj S, Cauchi S, Vaxillaire M, Sladek R, Visvikis-Siest S, Balkau B, Lévy-Marchal C, Pattou F, Meyre D, Blakemore AI, Jarvelin MR, Walley AJ, Hansen T, Dina C, Pedersen O, Froguel P.

Nat Genet. 2009 Jan;41(1):89-94. doi: 10.1038/ng.277. Epub 2008 Dec 7.

PMID:
19060909
14.

SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.

Unoki H, Takahashi A, Kawaguchi T, Hara K, Horikoshi M, Andersen G, Ng DP, Holmkvist J, Borch-Johnsen K, Jørgensen T, Sandbaek A, Lauritzen T, Hansen T, Nurbaya S, Tsunoda T, Kubo M, Babazono T, Hirose H, Hayashi M, Iwamoto Y, Kashiwagi A, Kaku K, Kawamori R, Tai ES, Pedersen O, Kamatani N, Kadowaki T, Kikkawa R, Nakamura Y, Maeda S.

Nat Genet. 2008 Sep;40(9):1098-102. doi: 10.1038/ng.208.

PMID:
18711366
15.

Age influences DNA methylation and gene expression of COX7A1 in human skeletal muscle.

Rönn T, Poulsen P, Hansson O, Holmkvist J, Almgren P, Nilsson P, Tuomi T, Isomaa B, Groop L, Vaag A, Ling C.

Diabetologia. 2008 Jul;51(7):1159-68. doi: 10.1007/s00125-008-1018-8. Epub 2008 May 17.

PMID:
18488190
16.

Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.

Holmkvist J, Almgren P, Lyssenko V, Lindgren CM, Eriksson KF, Isomaa B, Tuomi T, Nilsson P, Groop L.

Diabetes. 2008 Jun;57(6):1738-44. doi: 10.2337/db06-1464. Epub 2008 Mar 10.

17.

Polymorphisms in AHI1 are not associated with type 2 diabetes or related phenotypes in Danes: non-replication of a genome-wide association result.

Holmkvist J, Anthonsen S, Wegner L, Andersen G, Jørgensen T, Borch-Johnsen K, Sandbaek A, Lauritzen T, Pedersen O, Hansen T.

Diabetologia. 2008 Apr;51(4):609-14. doi: 10.1007/s00125-008-0925-z. Epub 2008 Jan 29.

PMID:
18227995
18.

Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle.

Ling C, Poulsen P, Simonsson S, Rönn T, Holmkvist J, Almgren P, Hagert P, Nilsson E, Mabey AG, Nilsson P, Vaag A, Groop L.

J Clin Invest. 2007 Nov;117(11):3427-35.

19.

Polymorphisms in the gene encoding the voltage-dependent Ca(2+) channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion.

Holmkvist J, Tojjar D, Almgren P, Lyssenko V, Lindgren CM, Isomaa B, Tuomi T, Berglund G, Renström E, Groop L.

Diabetologia. 2007 Dec;50(12):2467-75. Epub 2007 Oct 13.

PMID:
17934712
20.

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research, Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Boström K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Råstam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjögren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S.

Science. 2007 Jun 1;316(5829):1331-6. Epub 2007 Apr 26.

21.

Common variants in HNF-1 alpha and risk of type 2 diabetes.

Holmkvist J, Cervin C, Lyssenko V, Winckler W, Anevski D, Cilio C, Almgren P, Berglund G, Nilsson P, Tuomi T, Lindgren CM, Altshuler D, Groop L.

Diabetologia. 2006 Dec;49(12):2882-91. Epub 2006 Oct 11.

PMID:
17033837
22.

Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.

Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop L.

Diabetes. 2005 Aug;54(8):2336-42.

23.

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.

Holmkvist J, Almgren P, Parikh H, Zucchelli M, Kere J, Groop L, Lindgren CM.

Eur J Hum Genet. 2005 Jul;13(7):849-55.

24.

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.

Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D.

Diabetes. 2004 May;53(5):1360-8.

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