SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Koenig W) "

Sökning: WFRF:(Koenig W)

  • Resultat 531-540 av 565
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
531.
  •  
532.
  •  
533.
  • Parsa, Afshin, et al. (författare)
  • Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
  • 2013
  • Ingår i: Journal of the American Society of Nephrology. - 1046-6673 .- 1533-3450. ; 24:12, s. 2105-2117
  • Tidskriftsartikel (refereegranskat)abstract
    • Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.
  •  
534.
  • Pattaro, Cristian, et al. (författare)
  • Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
  • 2012
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:3, s. e1002584-
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genomewide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
  •  
535.
  •  
536.
  •  
537.
  •  
538.
  •  
539.
  •  
540.
  • Picciotto, S, et al. (författare)
  • Determinants of plasma interleukin-6 levels among survivors of myocardial infarction
  • 2008
  • Ingår i: European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology. - 1741-8275. ; 15:6, s. 631-638
  • Tidskriftsartikel (refereegranskat)
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 531-540 av 565
Typ av publikation
tidskriftsartikel (418)
konferensbidrag (10)
forskningsöversikt (4)
Typ av innehåll
refereegranskat (538)
övrigt vetenskapligt/konstnärligt (14)
Författare/redaktör
Bauer, F. (413)
Chen, X. (413)
Adye, T. (412)
Akimov, A. V. (412)
Aleksa, M. (412)
Amelung, C. (412)
visa fler...
Anastopoulos, C. (412)
Antonelli, M. (412)
Arai, Y. (412)
Arnaez, O. (412)
Asquith, L. (412)
Assamagan, K. (412)
Bachacou, H. (412)
Backes, M. (412)
Baker, O. K. (412)
Banas, E. (412)
Barisonzi, M. (412)
Barklow, T. (412)
Beau, T. (412)
Beck, H. P. (412)
Bella, G. (412)
Beltramello, O. (412)
Benary, O. (412)
Benekos, N. (412)
Benhammou, Y. (412)
Berger, N. (412)
Beringer, J. (412)
Berry, T. (412)
Bilokon, H. (412)
Blumenschein, U. (412)
Boehler, M. (412)
Boisvert, V. (412)
Boonekamp, M. (412)
Borisov, A. (412)
Borissov, G. (412)
Bulekov, O. (412)
Burckhart, H. (412)
Burke, S. (412)
Busato, E. (412)
Calderini, G. (412)
Carli, T. (412)
Caron, S. (412)
Casadei, D. (412)
Catinaccio, A. (412)
Chakraborty, D. (412)
Chapman, J. D. (412)
Chekanov, S. (412)
Chen, H. (412)
Cheu, E. (412)
Chevalier, L. (412)
visa färre...
Lärosäte
Lunds universitet (324)
Uppsala universitet (323)
Stockholms universitet (275)
Kungliga Tekniska Högskolan (268)
Karolinska Institutet (87)
Göteborgs universitet (32)
visa fler...
Umeå universitet (24)
Högskolan Dalarna (13)
Linköpings universitet (4)
Sveriges Lantbruksuniversitet (4)
Karlstads universitet (1)
visa färre...
Språk
Engelska (565)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (285)
Medicin och hälsovetenskap (91)
Samhällsvetenskap (1)
Humaniora (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