Publications
Top 20 publications during past twenty years
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1)
K. Kainulainen, L. Pulkkinen, A. Savolainen, I. Kaitila, L.
Peltonen: Location on chromosome 15 of the gene defect causing Marfan
syndrome.
N Engl J Med 323:935-939, 1990.
2) E. Ikonen, M. Baumann, K. Grön, A.-C. Syvänen, N. Enomaa, R. Halila, P. Aula, L. Peltonen: Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 10:1:51-58, 1991.
3)
A. Suomalainen, J. Kaukonen, P. Amati, R. Timonen, M. Haltia, J.
Weissenbach, M. Zeviani, H. Somer, L. Peltonen:
An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet
9:146-151, 1995.
4) J.
Vesa, E. Hellsten, L.-A. Verkruyse, L.A. Camp, J. Rapola, P. Santavuori, S.L.
Hofmann, L. Peltonen: Mutations in the palmitoyl protein
thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature,
376:584-587,1995.
5)
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.
Nat Genet 17:399-403, 1997.
6)
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. Nat Genet 18:369-373, 1998.
7) 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.
8)
Paloneva, J., Kestilä, M., Wu, J., Salminen, A., Bohling,
T., Ruotsalainen, V., Hakola, P., Bakker, A., Phillips, J., Pekkarinen, P.,
Lanier, L.,
Timonen, T., Peltonen, L. Loss-of function mutations in TYROBP result
in a presenile dementia with bone cysts. Nature Genetics 25:3:357-361, 2000.
9) L. Peltonen, A. Palotie, K. Lange: Use of Population Isolates for Mapping Complex Traits. Nature Reviews Genetics 1:182-191, 2000.
10) L. Peltonen, V.A. McKusick: Dissecting human diseases after the human genome project: Science, 291:1224-29, 2001.
11) D. Boomsma, A. Busjahn, L.Peltonen: The classical twin studies and beyond. Nature Reviews Genetics. 3:872-883, 2002.
12) 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.
13)
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.
14)
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.
15)
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 Genet 2(5);
e69, 2006.
16)
N.S. Enattah, T.G. Jensen, M. Nielsen, R. Lewinski, M. Kuokkanen, H.
Rasinperä, H. El-Shanti, J.K. Seo, M. Alifrangis, I.F. Khalil, A. Natah, A.
Ali,
S. Natah, D. Comas, S.Q. Mehdi, L. Groop, E.M. Vestergaard, F. Imtiaz, M.S.
Rashed, B. Meyer, J. Troelsen, L. Peltonen: Independent introduction
of two lactase-persistence alleles into human populations reflects different
history of adaption to milk culture. Am J Hum Genet 82(1):57-82
(Epub Jan10), 2008.
17)
H.O. Nousiainen,
M. Kestilä, N. Pakkasjärvi, H. Honkala, S. Kuure, J. Tallila, K. Vuopala, J.
Ignatius, R. Herva, L. Peltonen:
Mutations in mRNA export mediator GLE1L result in a fetal motoneuron
disease. Nat Genet,
Feb;40(2):155-7 (Jan 20.), 2008.
18)
KH.
Pietiläinen, J. Naukkarinen, A. Rissanen, J. Saharinen, P. Ellonen, H.
Keränen, A. Suomalainen, A. Götz, T. Suortti, H. Yki-Järvinen, M. Orešič,
J. Kaprio, L. Peltonen: Global Transcript Profiles of Fat in
Monozygotic Twins Discordant for BMI: Pathways behind Acquired Obesity.
PLoS Med. 5(3):e51 (Epub Mar 11), 2008.
19)
Y.S. Aulchenko,
S. Ripatti, I. Lindqvist, D. Boomsma, I. Heid, C. Pattaro, A. Cecile, J.W.
Janssens, J.F. Wilson, I. Rudan, Å. Johansson, T. Spector, N.G Martin, N.L
Pedersen, F. Marroni, K. Ohm Kyvik, J. Kaprio, A. Hofman, P. Elliott, C.
Gieger, A. Isaacs, C. Hayward, V. Vitart, I. Jonasson, E.J.G. Sijbrands, N.
Freimer, T. Meitinger, A.G. Uitterlinden, J. Saharinen, M. Perola, J.C.M.
Witteman, P.P. Pramstaller, M-R.
Järvelin, U. Gyllensten,
H. Campbel, A. Wright, N. Hastie, B.A. Oostra, F. Kronenberg, C.M. van
Duijn, L. Peltonen for the ENGAGE consortium: Genome-wide association
study in 16 European population cohorts: Major loci determining lipid levels
and coronary heart disease risk. Nat Genet. Jan; 41(1):47-55. (Epub 2008 Dec
7), 2009.
20) C. Sabatti, SK. Service, AL. Hartikainen, A. Pouta, S. Ripatti, J. Brodsky, CG. Jones, NA. Zaitlen, T. Varilo, M. Kaakinen, U. Sovio, A. Ruokonen, J. Laitinen, E. Jakkula, L. Coin, C. Hoggart, A. Collins, H. Turunen, S. Gabriel, P. Elliot, MI. McCarthy, MJ. Daly, MR. Järvelin, NB. Freimer, L. Peltonen: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet. Jan; 41(1):35-46. (Epub 2008 Dec 7). 2009.
