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Publications

Download full list here : peltonen-palotie julkaisuluettelo

Representative publications during past 10 years

S.Kuokkanen, M. Sundvall, J.D. Terwilliger, P.J. Tienari, J. Wikström, R.Holmdahl, U.Pettersson, L. Peltonen: A putative vulnerability locus to multiple sclerosis maps to  5p14-p12 in a region syntenic to the murine locus Eae2. Nature Genetics, 13:477-480, 1996.

J. Kaukonen, P. Amati, A. Suomalainen, A. Rötig, M-G. Piscaglia, F. Salvi, J. Weissenbach, G. Fratta, G. Comi, L. Peltonen, M. Zeviani: An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am.J.Hum.Genet. 58:763-769, 1996 Download Here

J. Aaltonen, P. Björses, J. Perheentupa, N. Horelli-Kuitunen, A. Palotie, Y. Su Lee, F. Francis, S. Henning, C. Thiel, H. Lehrach, M-L. Yaspo, L. Peltonen: An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genetics, 17:399-403, 1997

S. Kuokkanen, M. Gschwend, J.D. Rioux, M.J. Daly, J.D. Terwilliger, P. Tienari, J. Wikström, J. Palo, L. Stein, T. Hudson, E. Lander, L. Peltonen: Genome wide scan of multiple sclerosis in Finnish multiplex families. Am. J. Hum. Genet. 61:1379-1387, 1997. Download Here

P. Pajukanta, I. Nuotio, J. D. Terwilliger, K.V.K. Porkka, K. Ylitalo, J. Pihlajamäki, A.J. Suomalainen, A-C. Syvänen, J.S.A. Viikari, M. Laakso, M-R. Taskinen, C. Ehnholm, L. Peltonen: Linkage of familial combined hyperlipidemia to chromosome 1q21-q23. Nature Genetics, 18:369-373, 1998. Download Here

M. Savukoski, T. Klockars, V. Holmberg, P. Santavuori, E.S. Lander, L. Peltonen: CLN5, a novel gene encoding a putative transmembrane protein mutated in the Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL). Nature Genetics 19:286-288, 1998. Download Here

N. Enattah, T. Sahi, E. Savilahti, J. D. Terwilliger, L. Peltonen, I. Järvelä: Identification of a DNA variant associated with adult type hypolactasia.  Nature Genet. 30, 233-237, 2002. Download Here

J. Kaukonen, J. Juselius, V. Tiranti, A. Kyttälä, M. Zeviani, G. Comi, S. Keränen, L. Peltonen, A. Suomalainen: Role of ANT1 in mtDNA maintenance. Science 289:782-785, 2000. Download Here

J. Paloneva, M. Kestilä, J. Wu, A. Salminen, T. Böhling, V. Ruotsalainen, P. Hakola, A.B.H. Bakker, J.H. Phillips, P. Pekkarinen, L.L. Lanier, T. Timonen, L. Peltonen: Loss-of-function mutations in the TYROBP (DAP12) result in a presenile dementia with bone cysts.  Nat. Genet. 25:357-361, 2000. Download Here

T. Pastinen, M. Perola, J. Ignatius, C. Sabatti, P. Tainola, M. Levander, A-C. Syvänen, L. Peltonen: Dissecting a Population Genome for Targeted Screening of Disease Mutations.  Hum. Mol. Genet. Vol. 10 26:2961-2972, 2001. Download Here

J. Paloneva, T. Manninen, G. Chrisman, K. Hovanes, J. Mandelin, R. Adolfsson, M. Bianchin, T. Bird, R. Miranda, A. Salmaggi, L. Tranebjaerg, T. Konttinen, L. Peltonen: Mutations in two genes encoding different subunits of a receptor signaling complex result in identical disease phenotypes.  Am. J. Hum. Genet. 71:656-662, 2002. Download Here

C. Ramsey, O. Winqvist, L. Puhakka, M. Halonen, A. Moro, O. Kämpe, P. Eskelin, M. Pelto-Huikko, L. Peltonen:  Aire deficient mice develop multiple features of APECED phenotype and show altered immune response.  Human Mol. Genet. 11: 397-409, 2002. Download Here

A. Liston, S. Lesage, J. Wilson, L. Peltonen, C.C. Goodnow: Aire regulates negative selection of organ-specific T cells. Nature Immunology, 4 (4):350-354, 2003. Download Here

T. Varilo, T. Paunio, A. Parker, M. Perola, J. Meyer, J. D. Terwilliger, L. Peltonen: The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories. Hum. Mol. Gen. 12 (1): 51-59, 2003 Download Here

P. Pajukanta, H.E. Lilja, J.S. Sinsheimer, R.M. Cantor, A.J. Lusis, M. Gentile, X.J. Duan, A. Soro-Paavonen, J. Naukkarinen, J. Saarela, M. Laakso, C. Ehnholm, M-R.Taskinen, L. Peltonen: Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nature Genetics 36 (4): 371-376, 2004 Download Here

K. Komulainen, M. Alanne, K. Auro, R. Kilpikari, P. Pajukanta, J. Saarela, P. Ellonen, K. Salminen, S. Kulathinal, K. Kuulasmaa, K. Silander, V. Salomaa, M. Perola, L. Peltonen: Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies. PloS Gen 12;2(5); e69, 2006. Download Here

J. Saarela, S. P. Kallio, D. Chen, A. Montpetit, A. Jokiaho, E. Choi, R. Asselta, d. Bronnikov, M. R. Lincoln, A. D. Sadovnick, P. J. Tienari, K. Koivisto, A. Palotie, G. C. Ebers, T. J. Hudson, L. Peltonen: PRKCA and Multiple Sclerosis: Association in two independent populations. PLoS Genet: Mar;2(3):e42, 2006. Download Here

S. Service, J. DeYoung, M. Karayiorgou, J. Louw Roos, H. Pretorious, G. Bedoya, J. Ospina, A. Ruiz-Linares, A. Macedo, J. Almeida Palha, P. Heutink, Y. Aulchenko, B. Oostra, C. van Duijn, M-R. Jarvelin, T. Varilo, L. Peddle, P. Rahman, G. Piras, M. Monne, S. Murray, L. Galver, L. Peltonen, C. Sabatti, A. Collins, N. Freimer: Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet. 38(5); 556-560, 2006. Download Here

Reviews

L. Peltonen, A. Palotie, K. Lange: Use of Population Isolates for Mapping Complex Traits. Nature Reviews Genetics 1:182-191, 2000. Download Here

L. Peltonen, V.A. McKusick: Dissecting human diseases after the human genome project: Science, 291:1224-29, 2001.

I. Ulmanen, M. Halonen, T. Ilmarinen, L. Peltonen: Monogenic autoimmune diseases — lessons of self-tolerance.  Curr Opin Immunol, 17(6):609-15, 2005. Download Here

L. Peltonen, M. Perola, J. Naukkarinen, A. Palotie: Lessons from studying monogenic disease for common disease. Hum Mol Genet: 15 Suppl 1: R67-74, 2006. Download Here

©2009 Sari Kivikko