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1.	Kanai, M, et al. (author) 2023 swepub:Mat__t
2.	Niemi, MEK, et al. (author) 2021 swepub:Mat__t
3.	Ramdas, S., et al. (author) A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids 2022 In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 109:8, s. 1366-1387 Journal article (peer-reviewed)abstract A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.
4.	Multimessenger observations of a flaring blazar coincident with high-energy neutrino IceCube-170922A 2018 In: Science. - : American Association for the Advancement of Science. - 0036-8075 .- 1095-9203. ; 361:6398 Journal article (peer-reviewed)
5.	Munn-Chernoff, M. A., et al. (author) Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies 2021 In: Addiction Biology. - : Wiley. - 1355-6215 .- 1369-1600. ; 26:1 Journal article (peer-reviewed)abstract Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
6.	O'Donnell-Luria, AH, et al. (author) Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:6, s. 1210-1222 Journal article (peer-reviewed)
7.	Yengo, L, et al. (author) A saturated map of common genetic variants associated with human height 2022 In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 610:7933, s. 704- Journal article (peer-reviewed)
8.	Graham, SE, et al. (author) Author Correction: The power of genetic diversity in genome-wide association studies of lipids 2023 In: Nature. - 1476-4687. ; 618:7965, s. E19-E20 Journal article (other academic/artistic)
9.	Graham, SE, et al. (author) The power of genetic diversity in genome-wide association studies of lipids 2021 In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 600:7890, s. 675- Journal article (peer-reviewed)
10.	Mikus, Maria, et al. (author) Epithelial dysregulation in obese severe asthmatics with gastro-oesophageal reflux 2019 In: The European respiratory journal. - : European Respiratory Society (ERS). - 1399-3003 .- 0903-1936. ; 53:6 Journal article (other academic/artistic)

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Result 1-10 of 93

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Type of publication: journal article (87); conference paper (2); research review (2)

Type of content: peer-reviewed (86); other academic/artistic (5)

Author/Editor: Giroletti, M. (47); Bellazzini, R. (45); Bruel, P. (45); Cameron, R. A. (45); Guiriec, S. (45); Lubrano, P. (45); show more...; Mazziotta, M. N. (45); Mizuno, T. (45); Morselli, A. (45); Siskind, E. J. (45); Spinelli, P. (45); Bastieri, D. (45); Kuss, M. (45); Longo, F. (44); Baldini, L. (44); Ciprini, S. (44); D'Ammando, F. (44); Fusco, P. (44); Gargano, F. (44); Giglietto, N. (44); Loparco, F. (44); Orlando, E. (44); Raino, S. (44); Rando, R. (44); Sgrò, C. (44); Torres, D. F. (43); Reimer, A. (43); Reimer, O. (43); Gasparrini, D. (43); Monzani, M. E. (43); Pesce-Rollins, M. (43); Razzano, M. (43); Thayer, J. B. (43); Grenier, I. A. (43); Spandre, G. (43); Paneque, D. (42); Chiaro, G. (42); Giordano, F. (42); Michelson, P. F. (42); Nuss, E. (42); Latronico, L. (42); Barbiellini, G. (41); Caraveo, P. A. (41); Cutini, S. (41); Troja, E. (41); Buehler, R. (40); Larsson, Stefan (40); de Palma, F. (40); Orienti, M. (40); Piron, F. (40); show less...

University: Royal Institute of Technology (42); Stockholm University (41); Karolinska Institutet (29); Uppsala University (14); University of Gothenburg (12); Lund University (9); show more...; Umeå University (6); Högskolan Dalarna (6); Chalmers University of Technology (2); Luleå University of Technology (1); Örebro University (1); Linköping University (1); Stockholm School of Economics (1); Linnaeus University (1); show less...

Language: English (93)

Research subject (UKÄ/SCB): Natural sciences (60); Medical and Health Sciences (15); Social Sciences (2); Engineering and Technology (1)

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