SwePub - search: WFRF:(Aaltonen V.)

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1.	Aaltonen, T., et al. (author) Combination of Tevatron Searches for the Standard Model Higgs Boson in the W+W- Decay Mode 2010 In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 104:6, s. 061802- Journal article (peer-reviewed)abstract We combine searches by the CDF and D0 Collaborations for a Higgs boson decaying to W+W-. The data correspond to an integrated total luminosity of 4.8 (CDF) and 5.4 (D0) fb(-1) of p (p) over bar collisions at root s = 1.96 TeV at the Fermilab Tevatron collider. No excess is observed above background expectation, and resulting limits on Higgs boson production exclude a standard model Higgs boson in the mass range 162-166 GeV at the 95% C.L.
2.	Aaltonen, T., et al. (author) Combination of CDF and D0 measurements of the W boson helicity in top quark decays 2012 In: Physical Review D. - 1550-7998 .- 1550-2368. ; 85:7, s. 071106- Journal article (peer-reviewed)abstract We report the combination of recent measurements of the helicity of the W boson from top quark decay by the CDF and D0 collaborations, based on data samples corresponding to integrated luminosities of 2.7-5.4 fb(-1) of p (p) over bar collisions collected during Run II of the Fermilab Tevatron collider. Combining measurements that simultaneously determine the fractions of W bosons with longitudinal (f(0)) and right-handed (f(+)) helicities, we find f(0) = 0.722 +/- 0.081[+/- 0.062(stat) +/- 0.052(syst)] and f(+) = -0.033 +/- 0.046[+/- 0.034(stat) +/- 0.031(syst)]. Combining measurements where one of the helicity fractions is fixed to the value expected in the standard model, we find f(0) = 0.682 +/- 0.057[+/- 0.035(stat) +/- 0.046(syst)] for fixed f(+) and f(+) = -0.015 +/- 0.035[+/- 0.018(stat) +/- 0.030(syst)] for fixed f(0). The results are consistent with standard model expectations.
3.	Aaltonen, T., et al. (author) Evidence for a Particle Produced in Association with Weak Bosons and Decaying to a Bottom-Antibottom Quark Pair in Higgs Boson Searches at the Tevatron 2012 In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 109:7, s. 071804- Journal article (peer-reviewed)abstract We combine searches by the CDF and D0 Collaborations for the associated production of a Higgs boson with a W or Z boson and subsequent decay of the Higgs boson to a bottom-antibottom quark pair. The data, originating from Fermilab Tevatron p (p) over bar collisions at root s = 1.96 TeV, correspond to integrated luminosities of up to 9.7 fb(-1). The searches are conducted for a Higgs boson with mass in the range 100-150 GeV/c(2). We observe an excess of events in the data compared with the background predictions, which is most significant in the mass range between 120 and 135 GeV/c(2). The largest local significance is 3.3 standard deviations, corresponding to a global significance of 3.1 standard deviations. We interpret this as evidence for the presence of a new particle consistent with the standard model Higgs boson, which is produced in association with a weak vector boson and decays to a bottom-antibottom quark pair.
4.	Aaltonen, T., et al. (author) Tevatron Run II combination of the effective leptonic electroweak mixing angle 2018 In: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 97:11 Journal article (peer-reviewed)abstract Drell-Yan lepton pairs produced in the process p (p) over bar -> l(+)l(-) + X through an intermediate gamma*/Z boson have an asymmetry in their angular distribution related to the spontaneous symmetry breaking of the electroweak force and the associated mixing of its neutral gauge bosons. The CDF and D0 experiments have measured the effective-leptonic electroweak mixing parameter sin(2) theta(lept)(eff) using electron and muon pairs selected from the full Tevatron proton-antiproton data sets collected in 2001-2011, corresponding to 9-10 fb(-1) of integrated luminosity. The combination of these measurements yields the most precise result from hadron colliders, sin(2)theta(lept)(eff) = 0.23148 +/- 0.00033. This result is consistent with, and approaches in precision, the best measurements from electron-positron colliders. The standard model inference of the on-shell electroweak mixing parameter sin(2) theta(W), or equivalently the W-boson mass M-W, using the ZFITTER software package yields sin(2) theta(W) = 0.22324 +/- 0.00033 or equivalently, M-W = 80.367 +/- 0.017 GeV/c(2).
5.	Aaltonen, T., et al. (author) Combined Forward-Backward Asymmetry Measurements in Top-Antitop Quark Production at the Tevatron 2018 In: Physical Review Letters. - : AMER PHYSICAL SOC. - 0031-9007 .- 1079-7114. ; 120:4 Journal article (peer-reviewed)abstract The CDF and D0 experiments at the Fermilab Tevatron have measured the asymmetry between yields of forward- and backward-produced top and antitop quarks based on their rapidity difference and the asymmetry between their decay leptons. These measurements use the full data sets collected in proton-antiproton collisions at a center-of-mass energy of root s = 1.96 TeV. We report the results of combinations of the inclusive asymmetries and their differential dependencies on relevant kinematic quantities. The combined inclusive asymmetry is A(FB)(t (t) over bar) = 0.128 +/- 0.025. The combined inclusive and differential asymmetries are consistent with recent standard model predictions.
6.	Aaltonen, T., et al. (author) Combination of CDF and D0 W-Boson mass measurements 2013 In: Physical Review D. - 1550-7998 .- 1550-2368. ; 88:5, s. 052018- Journal article (peer-reviewed)abstract We summarize and combine direct measurements of the mass of the W boson in root s = 1.96 TeV proton-antiproton collision data collected by CDF and D0 experiments at the Fermilab Tevatron Collider. Earlier measurements from CDF and D0 are combined with the two latest, more precise measurements: a CDF measurement in the electron and muon channels using data corresponding to 2.2 fb(-1) of integrated luminosity, and a D0 measurement in the electron channel using data corresponding to 4.3 fb(-1) of integrated luminosity. The resulting Tevatron average for the mass of the W boson is M-W = 80387 +/- 16 MeV. Including measurements obtained in electron-positron collisions at LEP yields the most precise value of M-W = 80385 +/- 15 MeV.
7.	Aaltonen, T., et al. (author) Combination of measurements of the top-quark pair production cross section from the Tevatron Collider 2014 In: Physical Review D. - 1550-7998 .- 1550-2368. ; 89:7 Journal article (peer-reviewed)abstract We combine six measurements of the inclusive top-quark pair (t(sic)) production cross section (sigma(t)(sic)) from data collected with the CDF and D0 detectors at the Fermilab Tevatron with proton-antiproton collisions at root s = 1.96 TeV. The data correspond to integrated luminosities of up to 8.8 fb(-1). We obtain a value of sigma tt = 7.60 +/- 0.41 pb for a top-quark mass of m(t) = 172.5 GeV. The contributions to the uncertainty are 0.20 pb from statistical sources, 0.29 pb from systematic sources, and 0.21 pb from the uncertainty on the integrated luminosity. The result is in good agreement with the standard model expectation of 7.35(-0.33)(+0.28) pb at next-to-next-to-leading order and next-to-next-to leading logarithms in perturbative QCD.
8.	Aaltonen, T., et al. (author) Higgs boson studies at the Tevatron 2013 In: Physical Review D. - 1550-7998 .- 1550-2368. ; 88:5, s. 052014- Journal article (peer-reviewed)abstract We combine searches by the CDF and D0 Collaborations for the standard model Higgs boson with mass in the range 90-200 GeV/c(2) produced in the gluon-gluon fusion, WH, ZH, t (t) over barH, and vector boson fusion processes, and decaying in the H -> b (b) over bar, H -> W+W-, H -> ZZ, H -> tau(+)tau(-), and H -> gamma gamma modes. The data correspond to integrated luminosities of up to 10 fb(-1) and were collected at the Fermilab Tevatron in p (p) over bar collisions at root s = 1.96 TeV. The searches are also interpreted in the context of fermiophobic and fourth generation models. We observe a significant excess of events in the mass range between 115 and 140 GeV/c(2). The local significance corresponds to 3.0 standard deviations at m(H) = 125 GeV/c(2), consistent with the mass of the Higgs boson observed at the LHC, and we expect a local significance of 1.9 standard deviations. We separately combine searches for H -> b (b) over bar, H -> W+W-, H -> tau(+)tau(-), and H -> gamma gamma. The observed signal strengths in all channels are consistent with the presence of a standard model Higgs boson with a mass of 125 GeV/c(2).
9.	Aaltonen, T., et al. (author) Observation of s-Channel Production of Single Top Quarks at the Tevatron 2014 In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 112:23 Journal article (peer-reviewed)abstract We report the first observation of single-top-quark production in the s channel through the combination of the CDF and D0 measurements of the cross section in proton-antiproton collisions at a center-of-mass energy of 1.96 TeV. The data correspond to total integrated luminosities of up to 9.7 fb(-1) per experiment. The measured cross section is sigma(s) = 1.29(-0.24)(+0.26) pb. The probability of observing a statistical fluctuation of the background to a cross section of the observed size or larger is 1.8 x 10(-10), corresponding to a significance of 6.3 standard deviations for the presence of an s-channel contribution to the production of single-top quarks.
10.	Aaltonen, T., et al. (author) Tevatron Combination of Single-Top-Quark Cross Sections and Determination of the Magnitude of the Cabibbo-Kobayashi-Maskawa Matrix Element V-tb 2015 In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 115:15 Journal article (peer-reviewed)abstract We present the final combination of CDF and D0 measurements of cross sections for single-top-quark production in proton-antiproton collisions at a center-of-mass energy of 1.96 TeV. The data correspond to total integrated luminosities of up to 9.7 fb(-1) per experiment. The t-channel cross section is measured to be sigma(t) = 2.25(-0.31)(+0.29) pb. We also present the combinations of the two-dimensional measurements of the s- vs t-channel cross section. In addition, we give the combination of the s + t channel cross section measurement resulting in sigma(s+t) = 3.30(-0.40)(+0.52) pb, without assuming the standard model value for the ratio sigma(s)/sigma(t). The resulting value of the magnitude of the top-to-bottom quark coupling is vertical bar V-tb vertical bar = 1.02(-0.05)(+0.06), corresponding to vertical bar V-tb vertical bar > 0.92 at the 95% C. L.
11.	Aaltonen, T., et al. (author) Tevatron Constraints on Models of the Higgs Boson with Exotic Spin and Parity Using Decays to Bottom-Antibottom Quark Pairs 2015 In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 114:15 Journal article (peer-reviewed)abstract Combined constraints from the CDF and D0 Collaborations on models of the Higgs boson with exotic spin J and parity P are presented and compared with results obtained assuming the standard model value J(P) = 0(+). Both collaborations analyzed approximately 10 fb(-1) of proton-antiproton collisions with a center-of-mass energy of 1.96 TeV collected at the Fermilab Tevatron. Two models predicting exotic Higgs bosons with J(P) = 0(-) and J(P) = 2(+) are tested. The kinematic properties of exotic Higgs boson production in association with a vector boson differ from those predicted for the standard model Higgs boson. Upper limits at the 95% credibility level on the production rates of the exotic Higgs bosons, expressed as fractions of the standard model Higgs boson production rate, are set at 0.36 for both the J(P) = 0(-) hypothesis and the J(P) = 2(+) hypothesis. If the production rate times the branching ratio to a bottom-antibottom pair is the same as that predicted for the standard model Higgs boson, then the exotic bosons are excluded with significances of 5.0 standard deviations and 4.9 standard deviations for the J(P) = 0(-) and J(P) = 2(+) hypotheses, respectively.
12.	Campbell, PJ, et al. (author) Pan-cancer analysis of whole genomes 2020 In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82- Journal article (peer-reviewed)abstract Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
13.	Sliz, E., et al. (author) Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata 2023 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1 Journal article (peer-reviewed)abstract Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
14.	Fernandez-Rozadilla, C, et al. (author) Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries 2023 In: Nature genetics. - 1546-1718. Journal article (other academic/artistic)
15.	Fernandez-Rozadilla, C, et al. (author) Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries 2023 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 519-520 Journal article (other academic/artistic)
16.	Tabassum, R, et al. (author) Genetic architecture of human plasma lipidome and its link to cardiovascular disease 2019 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329- Journal article (peer-reviewed)abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
17.	French, JD, et al. (author) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers 2013 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 92:4, s. 489-503 Journal article (peer-reviewed)
18.	Lin, WY, et al. (author) Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk 2015 In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:1, s. 285-298 Journal article (peer-reviewed)
19.	Silventoinen, K., et al. (author) The CODATwins Project : The current status and recent findings of COllaborative Project of Development of Anthropometrical Measures in Twins 2019 In: Twin Research and Human Genetics. - : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 22:6, s. 800-808 Journal article (peer-reviewed)abstract The COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) project is a large international collaborative effort to analyze individual-level phenotype data from twins in multiple cohorts from different environments. The main objective is to study factors that modify genetic and environmental variation of height, body mass index (BMI, kg/m2) and size at birth, and additionally to address other research questions such as long-term consequences of birth size. The project started in 2013 and is open to all twin projects in the world having height and weight measures on twins with information on zygosity. Thus far, 54 twin projects from 24 countries have provided individual-level data. The CODATwins database includes 489,981 twin individuals (228,635 complete twin pairs). Since many twin cohorts have collected longitudinal data, there is a total of 1,049,785 height and weight observations. For many cohorts, we also have information on birth weight and length, own smoking behavior and own or parental education. We found that the heritability estimates of height and BMI systematically changed from infancy to old age. Remarkably, only minor differences in the heritability estimates were found across cultural-geographic regions, measurement time and birth cohort for height and BMI. In addition to genetic epidemiological studies, we looked at associations of height and BMI with education, birth weight and smoking status. Within-family analyses examined differences within same-sex and opposite-sex dizygotic twins in birth size and later development. The CODATwins project demonstrates the feasibility and value of international collaboration to address gene-by-exposure interactions that require large sample sizes and address the effects of different exposures across time, geographical regions and socioeconomic status.
20.	Tomasi, C., et al. (author) Aerosols in polar regions : A historical overview based on optical depth and in situ observations 2007 In: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 112:D16, s. D16205- Research review (peer-reviewed)abstract Large sets of filtered actinometer, filtered pyrheliometer and Sun photometer measurements have been carried out over the past 30 years by various groups at different Arctic and Antarctic sites and for different time periods. They were examined to estimate ensemble average, long-term trends of the summer background aerosol optical depth AOD(500 nm) in the polar regions ( omitting the data influenced by Arctic haze and volcanic eruptions). The trend for the Arctic was estimated to be between -1.6% and -2.0% per year over 30 years, depending on location. No significant trend was observed for Antarctica. The time patterns of AOD( 500 nm) and angstrom ngstrom's parameters a and beta measured with Sun photometers during the last 20 years at various Arctic and Antarctic sites are also presented. They give a measure of the large variations of these parameters due to El Chichon, Pinatubo, and Cerro Hudson volcanic particles, Arctic haze episodes most frequent in winter and spring, and the transport of Asian dust and boreal smokes to the Arctic region. Evidence is also shown of marked differences between the aerosol optical parameters measured at coastal and high-altitude sites in Antarctica. In situ optical and chemical composition parameters of aerosol particles measured at Arctic and Antarctic sites are also examined to achieve more complete information on the multimodal size distribution shape parameters and their radiative properties. A characterization of aerosol radiative parameters is also defined by plotting the daily mean values of a as a function of AOD( 500 nm), separately for the two polar regions, allowing the identification of different clusters related to fifteen aerosol classes, for which the spectral values of complex refractive index and single scattering albedo were evaluated.
21.	Tomasi, C., et al. (author) Aerosols in Polar Regions: An Historical Overview on the Basis of Optical Depth and In-Situ Observations 2007 In: J. Geophys. Res. (D Atmos.). Journal article (peer-reviewed)
22.	Broeks, A, et al. (author) Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium 2011 In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 20:16, s. 3289-3303 Journal article (peer-reviewed)
23.	Garcia-Closas, M, et al. (author) Genome-wide association studies identify four ER negative-specific breast cancer risk loci 2013 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:4, s. 392-398 Journal article (peer-reviewed)
24.	Michailidou, K, et al. (author) Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer 2015 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:4, s. 373- Journal article (peer-reviewed)
25.	Michailidou, K, et al. (author) Large-scale genotyping identifies 41 new loci associated with breast cancer risk 2013 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:4, s. 353-361 Journal article (peer-reviewed)
26.	Gaudet, MM, et al. (author) Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium 2009 In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1055-9965. ; 18:5, s. 1610-1616 Journal article (peer-reviewed)
27.	Khan, S, et al. (author) MicroRNA related polymorphisms and breast cancer risk 2014 In: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 9:11, s. e109973- Journal article (peer-reviewed)
28.	Silventoinen, K, et al. (author) Parental Education and Genetics of BMI from Infancy to Old Age: A Pooled Analysis of 29 Twin Cohorts 2019 In: Obesity (Silver Spring, Md.). - : Wiley. - 1930-739X .- 1930-7381. ; 27:5, s. 855-865 Journal article (peer-reviewed)
29.	Toledano, C., et al. (author) Overview of sun photometer measurements of aerosol properties in Scandinavia and Svalbard 2012 In: Atmospheric Environment. - : Elsevier BV. - 1352-2310 .- 1873-2844. ; 52, s. 18-28 Journal article (peer-reviewed)abstract An overview on the data of columnar aerosol properties measured in Northern Europe is provided. Apart from the necessary data gathered in the Arctic, the knowledge of the aerosol loading in nearby areas (e.g. sub-Arctic) is of maximum interest to achieve a correct analysis of the Arctic aerosols and transport patterns. This work evaluates data from operational sites with sun photometer measurements belonging either to national or international networks (AERONET, GAW-PFR) and programs conducted in Scandinavia and Svalbard. We enumerate a list of sites, measurement type and periods together with observed aerosol properties. An evaluation and analysis of aerosol data was carried out with a review of previous results as well. Aerosol optical depth (AOD) and Angstrom exponent (AE) are the current parameters with sufficient long-term records for a first evaluation of aerosol properties. AOD (500 nm) ranges from 0.08 to 0.10 in Arctic and sub-Arctic sites (Ny-Alesund: 0.09; Andenes: 0.10; Sodankyla: 0.08), and it is somewhat higher in more populated areas in Southern Scandinavia (AOD about 0.10-0.12 at 500 nm). On the Norwegian coast, aerosols show larger mean size (AE = 1.2 at Andenes) than in Finland, with continental climate (AE = 1.5 at Sodankyla). Columnar particle size distributions and related parameters derived from inversion of sun/sky radiances were also investigated. This work makes special emphasis in the joint and collaborative effort of the various groups from different countries involved in this study. Part of the measurements presented here were involved in the IPY projects Polar-AOD and POLARCAT.
30.	Ahvenainen, T, et al. (author) Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer 2008 In: Cancer genetics and cytogenetics. - : Elsevier BV. - 1873-4456 .- 0165-4608. ; 183:2, s. 83-88 Journal article (peer-reviewed)
31.	Carbonell-Roig, J, et al. (author) Dysregulated acetylcholine-mediated dopamine neurotransmission in the eIF4E Tg mouse model of autism spectrum disorders 2024 In: bioRxiv : the preprint server for biology. Journal article (other academic/artistic)
32.	Chen, Zhishan, et al. (author) Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes 2024 In: Nature Communications. - : Springer Nature. - 2041-1723. ; 15:1 Journal article (peer-reviewed)abstract Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.
33.	Cheng, F, et al. (author) KSHV-initiated notch activation leads to membrane-type-1 matrix metalloproteinase-dependent lymphatic endothelial-to-mesenchymal transition 2011 In: Cell host & microbe. - : Elsevier BV. - 1934-6069 .- 1931-3128. ; 10:6, s. 577-590 Journal article (peer-reviewed)
34.	Erkko, H, et al. (author) A recurrent mutation in PALB2 in Finnish cancer families 2007 In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 446:7133, s. 316-319 Journal article (peer-reviewed)
35.	Gylfe, AE, et al. (author) Identification of candidate oncogenes in human colorectal cancers with microsatellite instability 2013 In: Gastroenterology. - : Elsevier BV. - 1528-0012 .- 0016-5085. ; 145:3, s. 540- Journal article (peer-reviewed)
36.	Jarvis, D, et al. (author) Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer 2016 In: British journal of cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 115:2, s. 266-272 Journal article (peer-reviewed)
37.	Jelenkovic, A., et al. (author) Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994 2016 In: eLIFE. - Cambridge, United Kingdom : eLife Sciences Publications. - 2050-084X. ; 5 Journal article (peer-reviewed)abstract Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent populations, nor that heritability of height will increase within a population as living standards improve.
38.	Johansson, Ann-Sofie, 1967-, et al. (author) Germ line insertions of moloney murine leukemia virus in the TLL mouse causes site-specific differences in lymphoma/leukemia frequency and tumor immunophenotype 2006 In: Anticancer Research. - 0250-7005 .- 1791-7530. ; 26:4B, s. 2873-2878 Journal article (peer-reviewed)abstract Background: Moloney murine leukemia virus (Mo-MLV) has proven valuable for studies of the pathogenesis of malignant lymphoma. Inoculation of newborn mice induces T cell lymphoma with 100% incidence. The TLL (T cell lymphoma/leukemia)-strain was previously established and was shown to spontaneously develop T cell lymphoma at high frequency. Materials and Methods: Differential screening of cDNA libraries was performed to discover an involvement of Mo-MLV and genomic sequencing was used to identify the chromosomal position of Mo-MLV proviral integration sites. Immunophenotypes of the tumors were established by flow cytometry. Disease frequency curves were created according to the Kaplan-Meier method. Results: Two independent Mo-MLV germ line integrations were characterized on chromosomes 2 and 14, giving rise to two substrains of mice denoted TLL-2 and TLL-14. The chromosomal position of the integrated provirus affected the frequency of disease, as well as the immunophenotype of the tumors. Conclusion: The data suggest that factors influencing the transcriptional activity of the chromosomal regions, leading to differences in proviral expression, could underlie the observed difference in tumor frequency.
39.	Johnatty, S. E., et al. (author) No evidence that GATA3 rs570613 SNP modifies breast cancer risk 2009 In: Breast Cancer Research and Treatment. - : Springer. - 0167-6806 .- 1573-7217. ; 117:2, s. 371-379 Journal article (peer-reviewed)abstract GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (P trend = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al. (2007) Cancer Epidemiol Biomarkers Prev 16:2269-2275]. We genotyped GATA3 rs570613 in 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). We found no association between this SNP and breast cancer risk in BCAC cases overall (ORper-allele = 1.00, 95% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-allele = 0.93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women.
40.	Kuisma, H, et al. (author) Histopathologic and Molecular Characterization of Uterine Leiomyoma-like Inflammatory Myofibroblastic Tumor: Comparison to Molecular Subtypes of Uterine Leiomyoma 2022 In: The American journal of surgical pathology. - 1532-0979. ; 46:8, s. 1126-1136 Journal article (peer-reviewed)
41.	Law, Philip J., et al. (author) Association analyses identify 31 new risk loci for colorectal cancer susceptibility 2019 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10 Journal article (peer-reviewed)abstract Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.
42.	Makinen, N, et al. (author) MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas 2011 In: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 334:6053, s. 252-255 Journal article (peer-reviewed)abstract Uterine fibroids frequently harbor mutations in a specific gene that has been implicated in transcriptional regulation.
43.	Onay, Ummiye V., et al. (author) Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk 2008 In: BMC cancer. - : Springer Science and Business Media LLC. - 1471-2407. ; 8, s. 6- Journal article (peer-reviewed)abstract BACKGROUND: Estrogens are crucial tumorigenic hormones, which impact the cell growth and proliferation during breast cancer development. Estrogens are metabolized by a series of enzymes including COMT, which converts catechol estrogens into biologically non-hazardous methoxyestrogens. Several studies have also shown the relationship between estrogen and cell cycle progression through activation of CCND1 transcription. METHODS: In this study, we have investigated the independent and the combined effects of commonly occurring CCND1 (Pro241Pro, A870G) and COMT (Met108/158Val) polymorphisms to breast cancer risk in two independent Caucasian populations from Ontario (1228 breast cancer cases and 719 population controls) and Finland (728 breast cancer cases and 687 population controls). Both COMT and CCND1 polymorphisms have been previously shown to impact on the enzymatic activity of the coded proteins. RESULTS: Here, we have shown that the high enzymatic activity genotype of CCND1High (AA) was associated with increased breast cancer risk in both the Ontario [OR: 1.3, 95%CI (1.0-1.69)] and the Finland sample [OR: 1.4, 95%CI (1.01-1.84)]. The heterozygous COMTMedium (MetVal) and the high enzymatic activity of COMTHigh (ValVal) genotype was also associated with breast cancer risk in Ontario cases, [OR: 1.3, 95%CI (1.07-1.68)] and [OR: 1.4, 95%CI (1.07-1.81)], respectively. However, there was neither a statistically significant association nor increased trend of breast cancer risk with COMTHigh (ValVal) genotypes in the Finland cases [OR: 1.0, 95%CI (0.73-1.39)]. In the combined analysis, the higher activity alleles of the COMT and CCND1 is associated with increased breast cancer risk in both Ontario [OR: 2.22, 95%CI (1.49-3.28)] and Finland [OR: 1.73, 95%CI (1.08-2.78)] populations studied. The trend test was statistically significant in both the Ontario and Finland populations across the genotypes associated with increasing enzymatic activity. CONCLUSION: Using two independent Caucasian populations, we have shown a stronger combined effect of the two commonly occurring CCND1 and COMT genotypes in the context of breast cancer predisposition.
44.	Orlando, G, et al. (author) Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease 2016 In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:11, s. 2349-2359 Journal article (peer-reviewed)
45.	Salovaara, R., et al. (author) Frequent loss of SMAD4/DPC4 protein in colorectal cancers 2002 In: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 51:1, s. 56-59 Journal article (peer-reviewed)abstract BACKGROUND AND AIMS: Loss of DNA sequences from chromosome 18q21 is a major genetic change in colorectal tumorigenesis. Multiple genes have been identified in this area. One of these, DPC4 (deleted in pancreatic cancer 4, also known as SMAD4), is mutated in a minor subset of colorectal carcinomas as well as in germlines of humans predisposed to colon tumours. PATIENTS AND METHODS: The involvement of SMAD4 in sporadic colorectal neoplasia was evaluated by immunohistochemistry in 53 unselected cases and 27 cases displaying microsatellite instability. RESULTS: SMAD4 expression was absent in 20 of 53 (38%) unselected colorectal carcinomas, and reduced in another 15 (28%) cases. However, 26 of 27 cancers displaying microsatellite instability and TGF-betaIIR mutations were positive for SMAD4 immunostaining. CONCLUSIONS: Loss of SMAD4 expression may play a more prominent role in colon cancer than anticipated based on genetic evidence, but not in mutator phenotype tumours.
46.	Salovaara, R, et al. (author) Frequent loss of SMAD4/DPC4 protein in colorectal cancers (Reprinted from Gut, vol 51, pg 56-59, 2002) 2002 In: JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY. - 1366-8714. ; 55:6, s. 385-388 Journal article (other academic/artistic)
47.	Tanskanen, T., et al. (author) Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci 2018 In: International Journal of Cancer. - Stockholm : Wiley. - 0020-7136 .- 1097-0215. ; 142:3, s. 540-546 Journal article (peer-reviewed)abstract Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry. The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p=2.08 x 10(-4); OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p=1.50 x 10(-9); OR, 1.12; 95% CI, 1.08-1.16). Variants at 2q35, 6p21.2, 8q23.3, 8q24.21, 10q22.3, 10q24.2, 11q13.4, 11q23.1, 14q22.2, 15q13.3, 18q21.1, 20p12.3 and 20q13.33 were associated with CRC in the Finnish population (false discovery rate<0.1), but new risk loci were not found. These results replicate the effects of multiple loci on the risk of CRC and identify shared risk alleles between the Finnish population isolate and outbred populations.
48.	Theodoratou, E, et al. (author) A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants 2010 In: British journal of cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 103:12, s. 1875-1884 Journal article (peer-reviewed)
49.	Tomlinson, IPM, et al. (author) COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer 2010 In: British journal of cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 102:2, s. 447-454 Journal article (peer-reviewed)
50.	Vahteristo, P, et al. (author) No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome 2010 In: Familial cancer. - : Springer Science and Business Media LLC. - 1573-7292 .- 1389-9600. ; 9:2, s. 245-251 Journal article (peer-reviewed)

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