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Items: 35

1.

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.

Almlöf JC, Nystedt S, Leonard D, Eloranta ML, Grosso G, Sjöwall C, Bengtsson AA, Jönsen A, Gunnarsson I, Svenungsson E, Rönnblom L, Sandling JK, Syvänen AC.

Hum Genet. 2019 Feb;138(2):141-150. doi: 10.1007/s00439-018-01966-7. Epub 2019 Feb 1.

2.

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Farias FHG, Dahlqvist J, Kozyrev SV, Leonard D, Wilbe M, Abramov SN, Alexsson A, Pielberg GR, Hansson-Hamlin H, Andersson G, Tandre K, Bengtsson AA, Sjöwall C, Svenungsson E, Gunnarsson I, Rantapää-Dahlqvist S, Syvänen AC, Sandling JK, Eloranta ML, Rönnblom L, Lindblad-Toh K.

Eur J Hum Genet. 2019 Mar;27(3):432-441. doi: 10.1038/s41431-018-0297-x. Epub 2018 Nov 20.

PMID:
30459414
3.

Cytokine production by activated plasmacytoid dendritic cells and natural killer cells is suppressed by an IRAK4 inhibitor.

Hjorton K, Hagberg N, Israelsson E, Jinton L, Berggren O, Sandling JK, Thörn K, Mo J; DISSECT consortium, Eloranta ML, Rönnblom L.

Arthritis Res Ther. 2018 Oct 24;20(1):238. doi: 10.1186/s13075-018-1702-0.

4.

Transcription profiling of peripheral B cells in antibody-positive primary Sjögren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature.

Imgenberg-Kreuz J, Sandling JK, Björk A, Nordlund J, Kvarnström M, Eloranta ML, Rönnblom L, Wahren-Herlenius M, Syvänen AC, Nordmark G.

Scand J Immunol. 2018 May;87(5):e12662. doi: 10.1111/sji.12662.

PMID:
29655283
5.

Epigenetic alterations in primary Sjögren's syndrome - an overview.

Imgenberg-Kreuz J, Sandling JK, Nordmark G.

Clin Immunol. 2018 Nov;196:12-20. doi: 10.1016/j.clim.2018.04.004. Epub 2018 Apr 9.

6.

Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.

Leonard D, Svenungsson E, Dahlqvist J, Alexsson A, Ärlestig L, Taylor KE, Sandling JK, Bengtsson C, Frodlund M, Jönsen A, Eketjäll S, Jensen-Urstad K, Gunnarsson I, Sjöwall C, Bengtsson AA, Eloranta ML, Syvänen AC, Rantapää-Dahlqvist S, Criswell LA, Rönnblom L.

Ann Rheum Dis. 2018 Jul;77(7):1063-1069. doi: 10.1136/annrheumdis-2017-212614. Epub 2018 Mar 7.

7.

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Imgenberg-Kreuz J, Carlsson Almlöf J, Leonard D, Alexsson A, Nordmark G, Eloranta ML, Rantapää-Dahlqvist S, Bengtsson AA, Jönsen A, Padyukov L, Gunnarsson I, Svenungsson E, Sjöwall C, Rönnblom L, Syvänen AC, Sandling JK.

Ann Rheum Dis. 2018 May;77(5):736-743. doi: 10.1136/annrheumdis-2017-212379. Epub 2018 Feb 1.

8.

Novel risk genes for systemic lupus erythematosus predicted by random forest classification.

Almlöf JC, Alexsson A, Imgenberg-Kreuz J, Sylwan L, Bäcklin C, Leonard D, Nordmark G, Tandre K, Eloranta ML, Padyukov L, Bengtsson C, Jönsen A, Dahlqvist SR, Sjöwall C, Bengtsson AA, Gunnarsson I, Svenungsson E, Rönnblom L, Sandling JK, Syvänen AC.

Sci Rep. 2017 Jul 24;7(1):6236. doi: 10.1038/s41598-017-06516-1.

9.

Transancestral mapping and genetic load in systemic lupus erythematosus.

Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ.

Nat Commun. 2017 Jul 17;8:16021. doi: 10.1038/ncomms16021.

10.

Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies.

Hedman ÅK, Mendelson MM, Marioni RE, Gustafsson S, Joehanes R, Irvin MR, Zhi D, Sandling JK, Yao C, Liu C, Liang L, Huan T, McRae AF, Demissie S, Shah S, Starr JM, Cupples LA, Deloukas P, Spector TD, Sundström J, Krauss RM, Arnett DK, Deary IJ, Lind L, Levy D, Ingelsson E.

Circ Cardiovasc Genet. 2017 Jan;10(1). pii: e001487. doi: 10.1161/CIRCGENETICS.116.001487.

11.

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity.

Wahl S, Drong A, Lehne B, Loh M, Scott WR, Kunze S, Tsai PC, Ried JS, Zhang W, Yang Y, Tan S, Fiorito G, Franke L, Guarrera S, Kasela S, Kriebel J, Richmond RC, Adamo M, Afzal U, Ala-Korpela M, Albetti B, Ammerpohl O, Apperley JF, Beekman M, Bertazzi PA, Black SL, Blancher C, Bonder MJ, Brosch M, Carstensen-Kirberg M, de Craen AJ, de Lusignan S, Dehghan A, Elkalaawy M, Fischer K, Franco OH, Gaunt TR, Hampe J, Hashemi M, Isaacs A, Jenkinson A, Jha S, Kato N, Krogh V, Laffan M, Meisinger C, Meitinger T, Mok ZY, Motta V, Ng HK, Nikolakopoulou Z, Nteliopoulos G, Panico S, Pervjakova N, Prokisch H, Rathmann W, Roden M, Rota F, Rozario MA, Sandling JK, Schafmayer C, Schramm K, Siebert R, Slagboom PE, Soininen P, Stolk L, Strauch K, Tai ES, Tarantini L, Thorand B, Tigchelaar EF, Tumino R, Uitterlinden AG, van Duijn C, van Meurs JB, Vineis P, Wickremasinghe AR, Wijmenga C, Yang TP, Yuan W, Zhernakova A, Batterham RL, Smith GD, Deloukas P, Heijmans BT, Herder C, Hofman A, Lindgren CM, Milani L, van der Harst P, Peters A, Illig T, Relton CL, Waldenberger M, Järvelin MR, Bollati V, Soong R, Spector TD, Scott J, McCarthy MI, Elliott P, Bell JT, Matullo G, Gieger C, Kooner JS, Grallert H, Chambers JC.

Nature. 2017 Jan 5;541(7635):81-86. doi: 10.1038/nature20784. Epub 2016 Dec 21.

12.

Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

Roos L, Sandling JK, Bell CG, Glass D, Mangino M, Spector TD, Deloukas P, Bataille V, Bell JT.

J Invest Dermatol. 2017 Apr;137(4):910-920. doi: 10.1016/j.jid.2016.11.029. Epub 2016 Dec 18.

13.

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.

Morin A, Kwan T, Ge B, Letourneau L, Ban M, Tandre K, Caron M, Sandling JK, Carlsson J, Bourque G, Laprise C, Montpetit A, Syvanen AC, Ronnblom L, Sawcer SJ, Lathrop MG, Pastinen T.

BMC Med Genomics. 2016 Sep 13;9(1):59. doi: 10.1186/s12920-016-0220-7.

14.

Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjögren's syndrome.

Brække Norheim K, Imgenberg-Kreuz J, Jonsdottir K, Janssen EA, Syvänen AC, Sandling JK, Nordmark G, Omdal R.

Rheumatology (Oxford). 2016 Jun;55(6):1074-82. doi: 10.1093/rheumatology/kew008. Epub 2016 Mar 10.

PMID:
26966136
15.

Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes.

Imgenberg-Kreuz J, Sandling JK, Almlöf JC, Nordlund J, Signér L, Norheim KB, Omdal R, Rönnblom L, Eloranta ML, Syvänen AC, Nordmark G.

Ann Rheum Dis. 2016 Nov;75(11):2029-2036. doi: 10.1136/annrheumdis-2015-208659. Epub 2016 Feb 8.

16.

Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci.

Demerath EW, Guan W, Grove ML, Aslibekyan S, Mendelson M, Zhou YH, Hedman ÅK, Sandling JK, Li LA, Irvin MR, Zhi D, Deloukas P, Liang L, Liu C, Bressler J, Spector TD, North K, Li Y, Absher DM, Levy D, Arnett DK, Fornage M, Pankow JS, Boerwinkle E.

Hum Mol Genet. 2015 Aug 1;24(15):4464-79. doi: 10.1093/hmg/ddv161. Epub 2015 May 1.

17.

DNA methylation of lipid-related genes affects blood lipid levels.

Pfeiffer L, Wahl S, Pilling LC, Reischl E, Sandling JK, Kunze S, Holdt LM, Kretschmer A, Schramm K, Adamski J, Klopp N, Illig T, Hedman ÅK, Roden M, Hernandez DG, Singleton AB, Thasler WE, Grallert H, Gieger C, Herder C, Teupser D, Meisinger C, Spector TD, Kronenberg F, Prokisch H, Melzer D, Peters A, Deloukas P, Ferrucci L, Waldenberger M.

Circ Cardiovasc Genet. 2015 Apr;8(2):334-42. doi: 10.1161/CIRCGENETICS.114.000804. Epub 2015 Jan 12.

18.

Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.

Kilarski LL, Achterberg S, Devan WJ, Traylor M, Malik R, Lindgren A, Pare G, Sharma P, Slowik A, Thijs V, Walters M, Worrall BB, Sale MM, Algra A, Kappelle LJ, Wijmenga C, Norrving B, Sandling JK, Rönnblom L, Goris A, Franke A, Sudlow C, Rothwell PM, Levi C, Holliday EG, Fornage M, Psaty B, Gretarsdottir S, Thorsteinsdottir U, Seshadri S, Mitchell BD, Kittner S, Clarke R, Hopewell JC, Bis JC, Boncoraglio GB, Meschia J, Ikram MA, Hansen BM, Montaner J, Thorleifsson G, Stefanson K, Rosand J, de Bakker PI, Farrall M, Dichgans M, Markus HS, Bevan S; GARNET Collaborative Research Group, Wellcome Trust Case Control Consortium 2, Australian Stroke Genetic Collaborative, the METASTROKE Consortium, and the International Stroke Genetics Consortium.

Neurology. 2014 Aug 19;83(8):678-85. doi: 10.1212/WNL.0000000000000707. Epub 2014 Jul 16.

19.

DNA methylation and body-mass index: a genome-wide analysis.

Dick KJ, Nelson CP, Tsaprouni L, Sandling JK, Aïssi D, Wahl S, Meduri E, Morange PE, Gagnon F, Grallert H, Waldenberger M, Peters A, Erdmann J, Hengstenberg C, Cambien F, Goodall AH, Ouwehand WH, Schunkert H, Thompson JR, Spector TD, Gieger C, Trégouët DA, Deloukas P, Samani NJ.

Lancet. 2014 Jun 7;383(9933):1990-8. doi: 10.1016/S0140-6736(13)62674-4. Epub 2014 Mar 13.

20.

Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.

Bolin K, Sandling JK, Zickert A, Jönsen A, Sjöwall C, Svenungsson E, Bengtsson AA, Eloranta ML, Rönnblom L, Syvänen AC, Gunnarsson I, Nordmark G.

PLoS One. 2013 Dec 27;8(12):e84450. doi: 10.1371/journal.pone.0084450. eCollection 2013.

21.

Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements.

Grundberg E, Meduri E, Sandling JK, Hedman AK, Keildson S, Buil A, Busche S, Yuan W, Nisbet J, Sekowska M, Wilk A, Barrett A, Small KS, Ge B, Caron M, Shin SY; Multiple Tissue Human Expression Resource Consortium, Lathrop M, Dermitzakis ET, McCarthy MI, Spector TD, Bell JT, Deloukas P.

Am J Hum Genet. 2013 Nov 7;93(5):876-90. doi: 10.1016/j.ajhg.2013.10.004. Epub 2013 Oct 31. Erratum in: Am J Hum Genet. 2013 Dec 5;93(6):1158.

22.

Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene variants.

Leonard D, Svenungsson E, Sandling JK, Berggren O, Jönsen A, Bengtsson C, Wang C, Jensen-Urstad K, Granstam SO, Bengtsson AA, Gustafsson JT, Gunnarsson I, Rantapää-Dahlqvist S, Nordmark G, Eloranta ML, Syvänen AC, Rönnblom L.

Circ Cardiovasc Genet. 2013 Jun;6(3):255-63. doi: 10.1161/CIRCGENETICS.113.000044. Epub 2013 May 9.

PMID:
23661672
23.

Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility.

Wang C, Ahlford A, Laxman N, Nordmark G, Eloranta ML, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Rantapää-Dahlqvist S, Sjöwall C, Sandling JK, Rönnblom L, Syvänen AC.

Genes Immun. 2013 Jun;14(4):217-22. doi: 10.1038/gene.2013.9. Epub 2013 Mar 28.

PMID:
23535865
24.

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.

Wang C, Ahlford A, Järvinen TM, Nordmark G, Eloranta ML, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Sjöwall C, Julkunen H, Criswell LA, Graham RR, Behrens TW, Kere J, Rönnblom L, Syvänen AC, Sandling JK.

Eur J Hum Genet. 2013 Sep;21(9):994-9. doi: 10.1038/ejhg.2012.277. Epub 2012 Dec 19.

25.

HLA-DRB1*04/*13 alleles are associated with vascular disease and antiphospholipid antibodies in systemic lupus erythematosus.

Lundström E, Gustafsson JT, Jönsen A, Leonard D, Zickert A, Elvin K, Sturfelt G, Nordmark G, Bengtsson AA, Sundin U, Källberg H, Sandling JK, Syvänen AC, Klareskog L, Gunnarsson I, Rönnblom L, Padyukov L, Svenungsson E.

Ann Rheum Dis. 2013 Jun;72(6):1018-25. doi: 10.1136/annrheumdis-2012-201760. Epub 2012 Aug 14.

PMID:
22893315
26.

Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4.

Wang C, Sandling JK, Hagberg N, Berggren O, Sigurdsson S, Karlberg O, Rönnblom L, Eloranta ML, Syvänen AC.

Ann Rheum Dis. 2013 Jan;72(1):96-103. doi: 10.1136/annrheumdis-2012-201364. Epub 2012 Jun 23.

PMID:
22730365
27.

Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma.

Wang C, Rose-Zerilli MJ, Koppelman GH, Sandling JK, Holloway JW, Postma DS, Holgate ST, Bours V, Syvänen AC, Dideberg V.

Gene. 2012 Aug 10;504(2):220-5. doi: 10.1016/j.gene.2012.05.021. Epub 2012 May 18.

PMID:
22613848
28.

Preferential association of interferon regulatory factor 5 gene variants with seronegative rheumatoid arthritis in 2 Swedish case-control studies.

Wang C, Kokkonen H, Sandling JK, Johansson M, Seddighzadeh M, Padyukov L, Rantapää-Dahlqvist S, Syvänen AC.

J Rheumatol. 2011 Oct;38(10):2130-2. doi: 10.3899/jrheum.110322. Epub 2011 Aug 1.

29.

Fetal, developmental, and parental influences on cystatin C in childhood: the Uppsala Family Study.

Nitsch D, Sandling JK, Byberg L, Larsson A, Tuvemo T, Syvänen AC, Koupil I, Leon DA.

Am J Kidney Dis. 2011 Jun;57(6):863-72. doi: 10.1053/j.ajkd.2010.12.025. Epub 2011 Mar 21.

PMID:
21420772
30.

Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development.

Sovio U, Mook-Kanamori DO, Warrington NM, Lawrence R, Briollais L, Palmer CN, Cecil J, Sandling JK, Syvänen AC, Kaakinen M, Beilin LJ, Millwood IY, Bennett AJ, Laitinen J, Pouta A, Molitor J, Davey Smith G, Ben-Shlomo Y, Jaddoe VW, Palmer LJ, Pennell CE, Cole TJ, McCarthy MI, Järvelin MR, Timpson NJ; Early Growth Genetics Consortium.

PLoS Genet. 2011 Feb;7(2):e1001307. doi: 10.1371/journal.pgen.1001307. Epub 2011 Feb 17.

31.

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.

Sandling JK, Garnier S, Sigurdsson S, Wang C, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Mälarstig A, Strawbridge RJ, Hamsten A, Criswell LA, Graham RR, Behrens TW, Eloranta ML, Alm G, Rönnblom L, Syvänen AC.

Eur J Hum Genet. 2011 Apr;19(4):479-84. doi: 10.1038/ejhg.2010.197. Epub 2010 Dec 22.

32.

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, Ortmann W, Kosoy R, Ferreira RC, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Rantapää-Dahlqvist S, Baechler EC, Brown EE, Alarcón GS, Edberg JC, Ramsey-Goldman R, McGwin G Jr, Reveille JD, Vilá LM, Kimberly RP, Manzi S, Petri MA, Lee A, Gregersen PK, Seldin MF, Rönnblom L, Criswell LA, Syvänen AC, Behrens TW, Graham RR.

Nat Genet. 2009 Nov;41(11):1228-33. doi: 10.1038/ng.468. Epub 2009 Oct 18.

33.

Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort.

Hellquist A, Sandling JK, Zucchelli M, Koskenmies S, Julkunen H, D'Amato M, Garnier S, Syvänen AC, Kere J.

Ann Rheum Dis. 2010 May;69(5):883-6. doi: 10.1136/ard.2009.112284. Epub 2009 Aug 27.

PMID:
19717398
34.

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.

Kristjansdottir G, Sandling JK, Bonetti A, Roos IM, Milani L, Wang C, Gustafsdottir SM, Sigurdsson S, Lundmark A, Tienari PJ, Koivisto K, Elovaara I, Pirttilä T, Reunanen M, Peltonen L, Saarela J, Hillert J, Olsson T, Landegren U, Alcina A, Fernández O, Leyva L, Guerrero M, Lucas M, Izquierdo G, Matesanz F, Syvänen AC.

J Med Genet. 2008 Jun;45(6):362-9. doi: 10.1136/jmg.2007.055012. Epub 2008 Feb 19.

35.

Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus.

Sigurdsson S, Göring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling JK, Eloranta ML, Feng D, Sangster-Guity N, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Barnes BJ, Alm G, Rönnblom L, Syvänen AC.

Hum Mol Genet. 2008 Mar 15;17(6):872-81. Epub 2007 Dec 6.

PMID:
18063667

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