SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Schofield P. R.) "

Sökning: WFRF:(Schofield P. R.)

  • Resultat 61-70 av 113
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
61.
  •  
62.
  • Ferrari, Raffaele, et al. (författare)
  • Frontotemporal dementia and its subtypes: a genome-wide association study.
  • 2014
  • Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
  • Tidskriftsartikel (refereegranskat)abstract
    • Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
  •  
63.
  •  
64.
  •  
65.
  • Semb, G, et al. (författare)
  • Erratum
  • 2017
  • Ingår i: Journal of plastic surgery and hand surgery. - 2000-6764. ; 51:2, s. 158-158
  • Tidskriftsartikel (refereegranskat)
  •  
66.
  •  
67.
  •  
68.
  •  
69.
  • Liu, DJ, et al. (författare)
  • Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
  • 2023
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 369-
  • Tidskriftsartikel (refereegranskat)abstract
    • Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.
  •  
70.
  • Ou, Anna H., et al. (författare)
  • Lithium response in bipolar disorder is associated with focal adhesion and PI3K-Akt networks: a multi-omics replication study
  • 2024
  • Ingår i: TRANSLATIONAL PSYCHIATRY. - 2158-3188. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Lithium is the gold standard treatment for bipolar disorder (BD). However, its mechanism of action is incompletely understood, and prediction of treatment outcomes is limited. In our previous multi-omics study of the Pharmacogenomics of Bipolar Disorder (PGBD) sample combining transcriptomic and genomic data, we found that focal adhesion, the extracellular matrix (ECM), and PI3K-Akt signaling networks were associated with response to lithium. In this study, we replicated the results of our previous study using network propagation methods in a genome-wide association study of an independent sample of 2039 patients from the International Consortium on Lithium Genetics (ConLiGen) study. We identified functional enrichment in focal adhesion and PI3K-Akt pathways, but we did not find an association with the ECM pathway. Our results suggest that deficits in the neuronal growth cone and PI3K-Akt signaling, but not in ECM proteins, may influence response to lithium in BD.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 61-70 av 113
Typ av publikation
tidskriftsartikel (108)
konferensbidrag (3)
annan publikation (1)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (101)
övrigt vetenskapligt/konstnärligt (12)
Författare/redaktör
Andreassen, OA (17)
Djurovic, S (17)
Li, J. (16)
Brau, J. E. (15)
Chen, Y. (15)
Oh, S. H. (15)
visa fler...
Wang, X. (15)
Zhang, F. (15)
Zhang, L. (15)
Thomas, P. (15)
Klimenko, S. (15)
McCarthy, R. (15)
Smith, J. R. (15)
Mitselmakher, G. (15)
Colla, A. (15)
Gupta, R. (15)
Brinkmann, M. (15)
Brisson, V. (15)
Miller, J. (15)
Bartos, I. (15)
Marka, S. (15)
Marka, Z. (15)
Agartz, I (15)
Melle, I (15)
Abbott, B. P. (15)
Abbott, R. (15)
Abbott, T. D. (15)
Adams, C. (15)
Affeldt, C. (15)
Ajith, P. (15)
Anderson, S. B. (15)
Anderson, W. G. (15)
Arai, K. (15)
Araya, M. C. (15)
Aston, S. M. (15)
Astone, P. (15)
Aufmuth, P. (15)
Aulbert, C. (15)
Babak, S. (15)
Ballardin, G. (15)
Barker, D. (15)
Barr, B. (15)
Barsotti, L. (15)
Bassiri, R. (15)
Bell, A. S. (15)
Bertolini, A. (15)
Betzwieser, J. (15)
Bilenko, I. A. (15)
Billingsley, G. (15)
Birch, J. (15)
visa färre...
Lärosäte
Karolinska Institutet (82)
Göteborgs universitet (38)
Umeå universitet (27)
Lunds universitet (24)
Uppsala universitet (17)
Stockholms universitet (6)
visa fler...
Kungliga Tekniska Högskolan (4)
Linköpings universitet (1)
Jönköping University (1)
Linnéuniversitetet (1)
visa färre...
Språk
Engelska (113)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (67)
Naturvetenskap (24)
Samhällsvetenskap (2)
Teknik (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy