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Träfflista för sökning "WFRF:(O'Donovan C.) "

Search: WFRF:(O'Donovan C.)

  • Result 61-70 of 144
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  • Mourikis, TP, et al. (author)
  • Patient-specific cancer genes contribute to recurrently perturbed pathways and establish therapeutic vulnerabilities in esophageal adenocarcinoma
  • 2019
  • In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3101-
  • Journal article (peer-reviewed)abstract
    • The identification of cancer-promoting genetic alterations is challenging particularly in highly unstable and heterogeneous cancers, such as esophageal adenocarcinoma (EAC). Here we describe a machine learning algorithm to identify cancer genes in individual patients considering all types of damaging alterations simultaneously. Analysing 261 EACs from the OCCAMS Consortium, we discover helper genes that, alongside well-known drivers, promote cancer. We confirm the robustness of our approach in 107 additional EACs. Unlike recurrent alterations of known drivers, these cancer helper genes are rare or patient-specific. However, they converge towards perturbations of well-known cancer processes. Recurrence of the same process perturbations, rather than individual genes, divides EACs into six clusters differing in their molecular and clinical features. Experimentally mimicking the alterations of predicted helper genes in cancer and pre-cancer cells validates their contribution to disease progression, while reverting their alterations reveals EAC acquired dependencies that can be exploited in therapy.
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  • Arnau-Soler, A, et al. (author)
  • Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland
  • 2019
  • In: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 9:1, s. 14-
  • Journal article (peer-reviewed)abstract
    • Stress is associated with poorer physical and mental health. To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population-based cohorts (Generation Scotland and UK Biobank). No SNP was individually significant in either GWAS, but gene-based tests identified six genes associated with depressive symptoms in UK Biobank (DCC, ACSS3, DRD2, STAG1, FOXP2 and KYNU; p < 2.77 × 10−6). Two SNPs with genome-wide significant GxE effects were identified by GWEIS in Generation Scotland: rs12789145 (53-kb downstream PIWIL4; p = 4.95 × 10−9; total SLE) and rs17070072 (intronic to ZCCHC2; p = 1.46 × 10−8; dependent SLE). A third locus upstream CYLC2 (rs12000047 and rs12005200, p < 2.00 × 10−8; dependent SLE) when the joint effect of the SNP main and GxE effects was considered. GWEIS gene-based tests identified: MTNR1B with GxE effect with dependent SLE in Generation Scotland; and PHF2 with the joint effect in UK Biobank (p < 2.77 × 10−6). Polygenic risk scores (PRSs) analyses incorporating GxE effects improved the prediction of depressive symptom scores, when using weights derived from either the UK Biobank GWAS of depressive symptoms (p = 0.01) or the PGC GWAS of major depressive disorder (p = 5.91 × 10−3). Using an independent sample, PRS derived using GWEIS GxE effects provided evidence of shared aetiologies between depressive symptoms and schizotypal personality, heart disease and COPD. Further such studies are required and may result in improved treatments for depression and other stress-related conditions.
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  • Result 61-70 of 144
Type of publication
journal article (138)
conference paper (4)
other publication (1)
research review (1)
Type of content
peer-reviewed (131)
other academic/artistic (13)
Author/Editor
O'Donovan, MC (55)
Owen, MJ (53)
Rietschel, M (42)
Gill, M. (42)
Craddock, N (40)
Cichon, S (40)
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Sullivan, PF (39)
Degenhardt, F (34)
Ripke, S (34)
Sklar, P (34)
Nothen, MM (33)
Kirov, G (32)
Herms, S. (32)
Werge, T (31)
Hoffmann, P (31)
Mattheisen, M (31)
Schulze, TG (31)
Posthuma, D (31)
Stefansson, K (30)
Stefansson, H. (30)
Maier, W (30)
McQuillin, A (30)
Landén, Mikael, 1966 (29)
Mors, O (29)
Frank, J (29)
Breen, G (28)
Kendler, KS (28)
Muller-Myhsok, B (27)
Smoller, JW (27)
Reif, A. (27)
Witt, SH (27)
Escott-Price, V (27)
Steinberg, S (26)
Mortensen, PB (26)
Corvin, A (26)
Wray, NR (26)
Borglum, AD (26)
Hougaard, DM (26)
Sigurdsson, E (26)
Djurovic, S (25)
Levinson, DF (25)
Nordentoft, M (25)
Esko, T (25)
Bellivier, F. (25)
Streit, F (25)
McIntosh, AM (24)
Metspalu, A (24)
Etain, B. (24)
Strohmaier, J (24)
Milani, L (24)
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University
Karolinska Institutet (125)
University of Gothenburg (35)
Umeå University (21)
Uppsala University (21)
Stockholm University (11)
Örebro University (5)
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Lund University (5)
Linköping University (3)
Swedish University of Agricultural Sciences (2)
Royal Institute of Technology (1)
RISE (1)
Marie Cederschiöld högskola (1)
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Language
English (144)
Research subject (UKÄ/SCB)
Medical and Health Sciences (67)
Natural sciences (15)
Engineering and Technology (1)

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