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618 results

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Page 1
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT. Flanagan SE, et al. Among authors: kere j. Nat Genet. 2014 Aug;46(8):812-814. doi: 10.1038/ng.3040. Epub 2014 Jul 20. Nat Genet. 2014. PMID: 25038750 Free PMC article.
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.
Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Börjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T. Swanberg M, et al. Among authors: kere j. Nat Genet. 2005 May;37(5):486-94. doi: 10.1038/ng1544. Epub 2005 Apr 10. Nat Genet. 2005. PMID: 15821736
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus.
Hellquist A, Zucchelli M, Kivinen K, Saarialho-Kere U, Koskenmies S, Widen E, Julkunen H, Wong A, Karjalainen-Lindsberg ML, Skoog T, Vendelin J, Cunninghame-Graham DS, Vyse TJ, Kere J, Lindgren CM. Hellquist A, et al. Among authors: kere j. J Med Genet. 2007 May;44(5):314-21. doi: 10.1136/jmg.2006.046185. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220214 Free PMC article.
A recurrent mutation in PALB2 in Finnish cancer families.
Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R. Erkko H, et al. Among authors: kere j. Nature. 2007 Mar 15;446(7133):316-9. doi: 10.1038/nature05609. Epub 2007 Feb 7. Nature. 2007. PMID: 17287723
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.
Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipilä I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J. Otonkoski T, et al. Among authors: kere j. Am J Hum Genet. 2007 Sep;81(3):467-74. doi: 10.1086/520960. Epub 2007 Jul 26. Am J Hum Genet. 2007. PMID: 17701893 Free PMC article.
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
Jiao H, Tóth B, Erdos M, Fransson I, Rákóczi E, Balogh I, Magyarics Z, Dérfalvi B, Csorba G, Szaflarska A, Megarbane A, Akatcherian C, Dbaibo G, Rajnavölgyi E, Hammarström L, Kere J, Lefranc G, Maródi L. Jiao H, et al. Among authors: kere j. Mol Immunol. 2008 Nov;46(1):202-6. doi: 10.1016/j.molimm.2008.07.001. Epub 2008 Aug 15. Mol Immunol. 2008. PMID: 18706697
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.
Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J; Collaborative Association Study of Psoriasis (CASP); Genetic Analysis of Psoriasis Consortium; Psoriasis Association Genetics Extension; Wellcome Trust Case Control Consortium 2; Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT, Trembath RC. Tsoi LC, et al. Among authors: kere j. Nat Genet. 2012 Dec;44(12):1341-8. doi: 10.1038/ng.2467. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143594 Free PMC article.
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, Doffinger R, Kuusanmäki H, Heiskanen-Kosma T, Trotta L, Chiang S, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg ML, Kovanen PE, Otonkoski T, Porkka K, Heiskanen K, Hänninen A, Bryceson YT, Uusitalo-Seppälä R, Saarela J, Seppänen M, Mustjoki S, Kere J. Haapaniemi EM, et al. Among authors: kere j. Blood. 2015 Jan 22;125(4):639-48. doi: 10.1182/blood-2014-04-570101. Epub 2014 Oct 27. Blood. 2015. PMID: 25349174 Free PMC article. Clinical Trial.
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.
Einarsdottir E, Svensson I, Darki F, Peyrard-Janvid M, Lindvall JM, Ameur A, Jacobsson C, Klingberg T, Kere J, Matsson H. Einarsdottir E, et al. Among authors: kere j. Hum Genet. 2015 Nov;134(11-12):1239-48. doi: 10.1007/s00439-015-1602-1. Epub 2015 Sep 23. Hum Genet. 2015. PMID: 26400686 Free PMC article.
618 results