SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "L773:0028 0836 OR L773:1476 4687 "

Sökning: L773:0028 0836 OR L773:1476 4687

  • Resultat 1111-1120 av 1354
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1111.
  • Ulfendahl, M (författare)
  • Hearing: Route to authentic hair cells
  • 2008
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 455:7212, s. 475-477
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
  •  
1112.
  • Vallabh Minikel, Eric, et al. (författare)
  • Evaluating drug targets through human loss-of-function genetic variation
  • 2020
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 581, s. 459-464
  • Tidskriftsartikel (refereegranskat)abstract
    • Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key findings regarding the assessment of candidate drug targets using human loss-of-function variants. First, even essential genes, in which loss-of-function variants are not tolerated, can be highly successful as targets of inhibitory drugs. Second, in most genes, loss-of-function variants are sufficiently rare that genotype-based ascertainment of homozygous or compound heterozygous ‘knockout’ humans will await sample sizes that are approximately 1,000 times those presently available, unless recruitment focuses on consanguineous individuals. Third, automated variant annotation and filtering are powerful, but manual curation remains crucial for removing artefacts, and is a prerequisite for recall-by-genotype efforts. Our results provide a roadmap for human knockout studies and should guide the interpretation of loss-of-function variants in drug development.
  •  
1113.
  • van der Harst, Pim, et al. (författare)
  • Seventy-five genetic loci influencing the human red blood cell
  • 2012
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
  • Tidskriftsartikel (refereegranskat)abstract
    • Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
  •  
1114.
  • van der Valk, Tom, et al. (författare)
  • Million-year-old DNA sheds light on the genomic history of mammoths
  • 2021
  • Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 591:7849, s. 265-269
  • Tidskriftsartikel (refereegranskat)abstract
    • Temporal genomic data hold great potential for studying evolutionary processes such as speciation. However, sampling across speciation events would, in many cases, require genomic time series that stretch well back into the Early Pleistocene subepoch. Although theoretical models suggest that DNA should survive on this timescale1, the oldest genomic data recovered so far are from a horse specimen dated to 780–560 thousand years ago2. Here we report the recovery of genome-wide data from three mammoth specimens dating to the Early and Middle Pleistocene subepochs, two of which are more than one million years old. We find that two distinct mammoth lineages were present in eastern Siberia during the Early Pleistocene. One of these lineages gave rise to the woolly mammoth and the other represents a previously unrecognized lineage that was ancestral to the first mammoths to colonize North America. Our analyses reveal that the Columbian mammoth of North America traces its ancestry to a Middle Pleistocene hybridization between these two lineages, with roughly equal admixture proportions. Finally, we show that the majority of protein-coding changes associated with cold adaptation in woolly mammoths were already present one million years ago. These findings highlight the potential of deep-time palaeogenomics to expand our understanding of speciation and long-term adaptive evolution.
  •  
1115.
  •  
1116.
  • van Gestel, Natasja, et al. (författare)
  • Predicting soil carbon loss with warming
  • 2018
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 554:E4-5
  • Tidskriftsartikel (refereegranskat)
  •  
1117.
  • Vandaele, Ann Carine, et al. (författare)
  • Martian dust storm impact on atmospheric H2O and D/H observed by ExoMars Trace Gas Orbiter
  • 2019
  • Ingår i: Nature. - : Springer. - 1476-4687 .- 1476-4687 .- 0028-0836. ; 568:7753, s. 521-525
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Global dust storms on Mars are rare1,2 but can affect the Martian atmosphere for several months. They can cause changes in atmospheric dynamics and inflation of the atmosphere3, primarily owing to solar heating of the dust3. In turn, changes in atmospheric dynamics can affect the distribution of atmospheric water vapour, with potential implications for the atmospheric photochemistry and climate on Mars4. Recent observations of the water vapour abundance in the Martian atmosphere during dust storm conditions revealed a high-altitude increase in atmospheric water vapour that was more pronounced at high northern latitudes5,6, as well as a decrease in the water column at low latitudes7,8. Here we present concurrent, high-resolution measurements of dust, water and semiheavy water (HDO) at the onset of a global dust storm, obtained by the NOMAD and ACS instruments onboard the ExoMars Trace Gas Orbiter. We report the vertical distribution of the HDO/H2O ratio (D/H) from the planetary boundary layer up to an altitude of 80 kilometres. Our findings suggest that before the onset of the dust storm, HDO abundances were reduced to levels below detectability at altitudes above 40 kilometres. This decrease in HDO coincided with the presence of water-ice clouds. During the storm, an increase in the abundance of H2O and HDO was observed at altitudes between 40 and 80 kilometres. We propose that these increased abundances may be the result of warmer temperatures during the dust storm causing stronger atmospheric circulation and preventing ice cloud formation, which may confine water vapour to lower altitudes through gravitational fall and subsequent sublimation of ice crystals3. The observed changes in H2O and HDO abundance occurred within a few days during the development of the dust storm, suggesting a fast impact of dust storms on the Martian atmosphere.
  •  
1118.
  • Vanlandewijck, Michael, et al. (författare)
  • A molecular atlas of cell types and zonation in the brain vasculature
  • 2018
  • Ingår i: Nature. - : NATURE PUBLISHING GROUP. - 0028-0836 .- 1476-4687. ; 554:7693, s. 475-480
  • Tidskriftsartikel (refereegranskat)abstract
    • Cerebrovascular disease is the third most common cause of death in developed countries, but our understanding of the cells that compose the cerebral vasculature is limited. Here, using vascular single-cell transcriptomics, we provide molecular definitions for the principal types of blood vascular and vessel-associated cells in the adult mouse brain. We uncover the transcriptional basis of the gradual phenotypic change (zonation) along the arteriovenous axis and reveal unexpected cell type differences: a seamless continuum for endothelial cells versus a punctuated continuum for mural cells. We also provide insight into pericyte organotypicity and define a population of perivascular fibroblast-like cells that are present on all vessel types except capillaries. Our work illustrates the power of single-cell transcriptomics to decode the higher organizational principles of a tissue and may provide the initial chapter in a molecular encyclopaedia of the mammalian vasculature.
  •  
1119.
  •  
1120.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1111-1120 av 1354
Typ av publikation
tidskriftsartikel (1320)
forskningsöversikt (13)
annan publikation (10)
recension (10)
konferensbidrag (1)
Typ av innehåll
refereegranskat (1153)
övrigt vetenskapligt/konstnärligt (192)
populärvet., debatt m.m. (9)
Författare/redaktör
Lindblad-Toh, Kersti ... (20)
Ahlberg, Per E. (19)
Kim, J. (13)
Melander, Olle (12)
Bäckhed, Fredrik, 19 ... (11)
Groop, Leif (11)
visa fler...
Gudnason, V (11)
Volzke, H (11)
Deloukas, Panos (11)
Lind, Lars (10)
Wareham, Nicholas J. (10)
McCarthy, Mark I (10)
Vollenweider, P. (10)
Bertsche, W. (10)
Fajans, J. (10)
Hangst, J. S. (10)
Wurtele, J. S. (10)
Wang, J. (9)
Evans, A. (9)
Castelo-Branco, G (9)
Lee, J. (9)
Wang, Q. (9)
Hultman, CM (9)
Ikram, MA (9)
Rudan, Igor (9)
van der Werf, D. P. (9)
Kellis, Manolis (9)
Lehtimaki, T. (9)
van Duijn, Cornelia ... (9)
Boehnke, Michael (9)
Cesar, C. L. (9)
Charlton, M. (9)
Eriksson, S. (9)
Friesen, T. (9)
Fujiwara, M. C. (9)
Gill, D. R. (9)
Hardy, W. N. (9)
Hayden, M. E. (9)
Jonsell, Svante (9)
Kurchaninov, L. (9)
Madsen, N. (9)
Menary, S. (9)
Olchanski, K. (9)
Olin, A. (9)
Pusa, P. (9)
Robicheaux, F. (9)
Sarid, E. (9)
Silveira, D. M. (9)
So, C. (9)
Thompson, R. I. (9)
visa färre...
Lärosäte
Karolinska Institutet (340)
Uppsala universitet (325)
Lunds universitet (185)
Stockholms universitet (184)
Göteborgs universitet (114)
Umeå universitet (97)
visa fler...
Chalmers tekniska högskola (72)
Kungliga Tekniska Högskolan (71)
Sveriges Lantbruksuniversitet (53)
Linköpings universitet (46)
Linnéuniversitetet (18)
Luleå tekniska universitet (12)
RISE (10)
Naturhistoriska riksmuseet (10)
Örebro universitet (7)
Högskolan i Halmstad (4)
Mittuniversitetet (4)
Handelshögskolan i Stockholm (3)
Mälardalens universitet (2)
Jönköping University (2)
Södertörns högskola (2)
Högskolan i Gävle (1)
IVL Svenska Miljöinstitutet (1)
visa färre...
Språk
Engelska (1350)
Odefinierat språk (3)
Svenska (1)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (644)
Medicin och hälsovetenskap (224)
Samhällsvetenskap (47)
Lantbruksvetenskap (45)
Teknik (30)
Humaniora (28)

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