Institution
University of Turku
Education•Turku, Finland•
About: University of Turku is a education organization based out in Turku, Finland. It is known for research contribution in the topics: Population & Galaxy. The organization has 16296 authors who have published 45124 publications receiving 1505428 citations. The organization is also known as: Turun yliopisto & Åbo universitet.
Topics: Population, Galaxy, Poison control, Health care, Pregnancy
Papers published on a yearly basis
Papers
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Boston University1, University of Greifswald2, University of Alabama at Birmingham3, Johns Hopkins University4, University of Oxford5, Indiana University6, University of Texas Health Science Center at Houston7, King's College London8, Utrecht University9, University of California, Los Angeles10, University of Gothenburg11, National Institutes of Health12, Wake Forest University13, Harvard University14, University of Exeter15, University of Oulu16, University of Lübeck17, Imperial College London18, California Pacific Medical Center19, French Institute of Health and Medical Research20, University of Massachusetts Amherst21, Erasmus University Rotterdam22, Hannover Medical School23, Lund University24, National Institute for Health and Welfare25, University of Helsinki26, Fred Hutchinson Cancer Research Center27, Uppsala University28, University of Parma29, University of Pittsburgh30, Broad Institute31, Ludwig Maximilian University of Munich32, Cedars-Sinai Medical Center33, University of Washington34, Wellcome Trust Sanger Institute35, Memorial University of Newfoundland36, University of Turku37
TL;DR: Evidence of sex-differentiated genetic influences on sex steroid hormone-binding globulin is found and the importance of considering these features when estimating complex trait variance is highlighted.
Abstract: Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroid hormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes (T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide association study (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046 individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBG concentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.8x10(-106)), PRMT6 (rs17496332, 1p13.3, p=1.4x10(-11)), GCKR (rs780093, 2p23.3, p=2.2x10(-16)), ZBTB10 (rs440837, 8q21.13, p=3.4x10(-09)), JMJD1C (rs7910927, 10q21.3, p=6.1x10(-35)), SLCO1B1 (rs4149056, 12p12.1, p=1.9x10(-08)), NR2F2 (rs8023580, 15q26.2, p=8.3x10(-12)), ZNF652 (rs2411984, 17q21.32, p=3.5x10(-14)), TDGF3 (rs1573036, Xq22.3, p=4.1x10(-14)), LHCGR (rs10454142, 2p16.3, p=1.3x10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p=2.7x10(-08)), and UGT2B15 (rs293428, 4q13.2, p=5.5x10(-06)). These genes encompass multiple biologic pathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptor function, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer. We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 was significant in men only (men p = 2.5x10(-08), women p=0.66, heterogeneity p=0.003). Additionally, three loci showed strong sex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger in women. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion of variance explained at the locus. Using an independent study of 1,129 individuals, all SNPs identified in the overall or sex-differentiated or conditional analyses explained similar to 15.6% and similar to 8.4% of the genetic variation of SHBG concentrations in men and women, respectively. The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance.
231 citations
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TL;DR: Use of polymers with low-water sorption seems to be beneficial in order to optimize the flexural properties of FRC.
231 citations
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TL;DR: The development of a medium‐density Atlantic salmon single nucleotide polymorphism (SNP) array based on expressed sequence tags (ESTs) and genomic sequencing is described and the potential for the array to disentangle neutral and putative adaptive divergence of SNP allele frequencies across populations and among regional groups is assessed.
Abstract: Atlantic salmon (Salmo salar) is one of the most extensively studied fish species in the world due to its significance in aquaculture, fisheries and ongoing conservation efforts to protect declining populations Yet, limited genomic resources have hampered our understanding of genetic architecture in the species and the genetic basis of adaptation to the wide range of natural and artificial environments it occupies In this study, we describe the development of a medium-density Atlantic salmon single nucleotide polymorphism (SNP) array based on expressed sequence tags (ESTs) and genomic sequencing The array was used in the most extensive assessment of population genetic structure performed to date in this species A total of 6176 informative SNPs were successfully genotyped in 38 anadromous and freshwater wild populations distributed across the species natural range Principal component analysis clearly differentiated European and North American populations, and within Europe, three major regional genetic groups were identified for the first time in a single analysis We assessed the potential for the array to disentangle neutral and putative adaptive divergence of SNP allele frequencies across populations and among regional groups In Europe, secondary contact zones were identified between major clusters where endogenous and exogenous barriers could be associated, rendering the interpretation of environmental influence on potentially adaptive divergence equivocal A small number of markers highly divergent in allele frequencies (outliers) were observed between (multiple) freshwater and anadromous populations, between northern and southern latitudes, and when comparing Baltic populations to all others We also discuss the potential future applications of the SNP array for conservation, management and aquaculture
231 citations
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TL;DR: The present knowledge about the interplay between integrins and GFRs is reviewed and recent ideas of how this collaboration may explain some previous controversies in integrin research are discussed.
Abstract: All multicellular animals express receptors for growth factors (GFs) and extracellular matrix (ECM) molecules. Integrin-type ECM receptors anchor cells to their surroundings and concomitantly activate intracellular signal transduction pathways. The same signaling mechanisms are regulated by GF receptors (GFRs). Recently, intensive research efforts have revealed novel mechanisms describing how the two receptor systems collaborate at many different levels. Integrins can directly bind to GFs and promote their activation. Adhesion receptors also organize signaling platforms and assist GFRs or even activate them via ligand-independent mechanisms. Furthermore, integrins can orchestrate endocytosis and recycling of GFRs. Here, we review the present knowledge about the interplay between integrins and GFRs and discuss recent ideas of how this collaboration may explain some previous controversies in integrin research.
231 citations
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TL;DR: The combined results from mutational analysis of 34 families and linkage analysis of a subset of consanguineous families indicate that perforin mutations account for 20%-40% of the F HL cases and the FHL 1 locus on chromosome 9 for approximately 10%, whereas the major part of theFHL cases are caused by mutations in not-yet-identified genes.
Abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages). Cytotoxic T and natural killer (NK) cell activity is markedly reduced or absent in these patients, and mutations in a lytic granule constituent, perforin, were recently identified in a number of FHL individuals. Here, we report a comprehensive survey of 34 additional patients with FHL for mutations in the coding region of the perforin gene and the relative frequency of perforin mutations in FHL. Perforin mutations were identified in 7 of the 34 families investigated. Six children were homozygous for the mutations, and one patient was a compound heterozygote. Four novel mutations were detected: one nonsense, two missense, and one deletion of one amino acid. In four families, a previously reported mutation at codon 374, causing a premature stop codon, was identified, and, therefore, this is the most common perforin mutation identified so far in FHL patients. We found perforin mutations in 20% of all FHL patients investigated (7/34), with a somewhat higher prevalence, ∼30% (6/20), in children whose parents originated from Turkey. No other correlation between the type of mutation and the phenotype of the patients was evident from the present study. Our combined results from mutational analysis of 34 families and linkage analysis of a subset of consanguineous families indicate that perforin mutations account for 20%–40% of the FHL cases and the FHL 1 locus on chromosome 9 for ∼10%, whereas the major part of the FHL cases are caused by mutations in not-yet-identified genes.
230 citations
Authors
Showing all 16461 results
Name | H-index | Papers | Citations |
---|---|---|---|
Kari Alitalo | 174 | 817 | 114231 |
Mika Kivimäki | 166 | 1515 | 141468 |
Jaakko Kaprio | 163 | 1532 | 126320 |
Veikko Salomaa | 162 | 843 | 135046 |
Markus W. Büchler | 148 | 1545 | 93574 |
Eugene C. Butcher | 146 | 446 | 72849 |
Steven Williams | 144 | 1375 | 86712 |
Terho Lehtimäki | 142 | 1304 | 106981 |
Olli T. Raitakari | 142 | 1232 | 103487 |
Pim Cuijpers | 136 | 982 | 69370 |
Jeroen J. Bax | 132 | 1306 | 74992 |
Sten Orrenius | 130 | 447 | 57445 |
Aarno Palotie | 129 | 711 | 89975 |
Stefan W. Hell | 127 | 577 | 65937 |
Carlos López-Otín | 126 | 494 | 83933 |