SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Nickel J) "

Sökning: WFRF:(Nickel J)

  • Resultat 1-10 av 62
  • [1]234567Nästa
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Rajewsky, N., et al. (författare)
  • LifeTime and improving European healthcare through cell-based interceptive medicine
  • 2020
  • Ingår i: Nature. - : Nature Research. - 0028-0836 .- 1476-4687.
  • Tidskriftsartikel (refereegranskat)abstract
    • LifeTime aims to track, understand and target human cells during the onset and progression of complex diseases and their response to therapy at single-cell resolution. This mission will be implemented through the development and integration of single-cell multi-omics and imaging, artificial intelligence and patient-derived experimental disease models during progression from health to disease. Analysis of such large molecular and clinical datasets will discover molecular mechanisms, create predictive computational models of disease progression, and reveal new drug targets and therapies. Timely detection and interception of disease embedded in an ethical and patient-centered vision will be achieved through interactions across academia, hospitals, patient-associations, health data management systems and industry. Applying this strategy to key medical challenges in cancer, neurological, infectious, chronic inflammatory and cardiovascular diseases at the single-cell level will usher in cell-based interceptive medicine in Europe over the next decade.
  •  
2.
  •  
3.
  •  
4.
  • Went, Molly, et al. (författare)
  • Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology
  • 2018
  • Ingår i: Blood Cancer Journal. - : Nature Publishing Group. - 2044-5385 .- 2044-5385. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) and chronic lymphocytic leukaemia (CLL) genome-wide association study (GWAS) data sets, totalling 11,734 cases and 29,468 controls. A significant genetic correlation between these two B-cell malignancies was shown (R-g = 0.4, P = 0.0046). Furthermore, four of the 45 known CLL risk loci were shown to associate with MM risk and five of the 23 known MM risk loci associate with CLL risk. By integrating eQTL, Hi-C and ChlP-seq data, we show that these pleiotropic risk loci are enriched for B-cell regulatory elements and implicate B-cell developmental genes. These data identify shared biological pathways influencing the development of CLL and, MM and further our understanding of the aetiological basis of these B-cell malignancies.
  •  
5.
  • Pelletier, F., et al. (författare)
  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
  • 2021
  • Ingår i: Journal of Clinical Endocrinology & Metabolism. - 0021-972X. ; 106:2, s. E660-E674
  • Tidskriftsartikel (refereegranskat)abstract
    • Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
  •  
6.
  •  
7.
  • Went, Molly, et al. (författare)
  • Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
  • 2018
  • Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723 .- 2041-1723. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight into the biological basis of MM.
  •  
8.
  • Aleksandrov, D., et al. (författare)
  • Halo excitations in fragmentation of He-6 at 240 MeV/u on carbon and lead targets
  • 2000
  • Ingår i: Nuclear Physics A. - 0375-9474. ; 669:1-2, s. 51-64
  • Tidskriftsartikel (refereegranskat)abstract
    • Dissociation of a 240 MeV/u beam of He-6, incident on carbon and lead targets, has been studied in kinematically complete experiments to investigate low-lying excitation modes in the halo nucleus He-6. It is shown that alignment effects characterize the inelastic scattering and allow an unambiguous assignment of the spin of a narrow resonance observed in the excitation energy spectrum. The differential cross sections for the He-6 inelastic scattering on carbon and lead targets were deduced from the measured moments of the two neutrons and the a-particle. An analysis of these distributions shows that quadrupole and, possibly, monopole excitations characterize the hadronic interaction, while the dipole mode is dominating in Coulomb dissociation. Neither theoretically predicted new resonance states in He-6 nor nuclear excitation of a dipole mode were found. Direct evidence has been obtained for strong suppression of Coulornb post-acceleration in direct Coulomb breakup in a lead target.
  •  
9.
  • Aleksandrov, D., et al. (författare)
  • Invariant mass spectrum and alpha-n correlation function studied in the fragmentation of He-6 on a carbon target
  • 1998
  • Ingår i: Nuclear Physics A. - 0375-9474. ; 633:2, s. 234-246
  • Tidskriftsartikel (refereegranskat)abstract
    • Momentum distributions and invariant mass spectra from the breakup of He-6 ions with an energy of 240 MeV/u interacting with a carbon target have been studied. The data were used to extract information about the reaction mechanism which is influenced by the structure of He-6. It is found that the dominant reaction mechanism is a two-step process: knock out of one neutron followed by the decay of the He-5 resonance. The shape of the (alpha+n) two-body invariant mass spectrum is interpreted as mainly reflecting the 5He ground state which is a J(pi) = 3/2(-) resonance. However, no evidence for correlations between cu particles and neutrons is observed in the momentum widths of the distributions. It is demonstrated that a combined analysis of the two-body invariant mass spectrum and an appropriate correlation function may be used to determine the properties of the intermediate resonance. (C) 1998 Elsevier Science B.V.
  •  
10.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 62
  • [1]234567Nästa
Typ av publikation
tidskriftsartikel (56)
konferensbidrag (5)
bokkapitel (1)
Typ av innehåll
refereegranskat (53)
övrigt vetenskapligt (9)
Författare/redaktör
Nilsson, Thomas, 196 ... (15)
Simon, H (15)
Richter, A. (15)
Jonson, Björn, 1941 (15)
Geissel, H. (15)
Münzenberg, G. (15)
visa fler...
Riisager, K. (15)
Schrieder, G. (15)
Nickel, F. (15)
Scheidenberger, C. (15)
Kulessa, R. (14)
Borge, M. J. G. (14)
Chulkov, L. V. (14)
Emling, H. (14)
Nyman, Göran Hugo, 1 ... (14)
Kratz, J. V. (13)
Leifels, Y (12)
Nickel, J. (12)
Elze, T. W. (11)
Aumann, T (10)
Holzmann, R. (10)
Stroth, J. (10)
Schwab, W. (10)
Zhukov, Mikhail, 194 ... (9)
Hoffmann, P (8)
Tengblad, Olof, 1957 (8)
Hemminki, Kari (8)
Weinhold, N (8)
Goldschmidt, H (8)
Nickel, D (8)
Försti, Asta (8)
Houlston, Richard S. (7)
Nickel, R. (7)
Zinser, M. (6)
Hellstrom, M (6)
Hemminki, K (6)
Thomsen, H (6)
Baumann, T. (6)
Meister, Mikael, 196 ... (6)
Goldschmidt, Hartmut (6)
Weinhold, Niels (6)
Guillemaudmueller, D ... (6)
Hansen, P. G. (6)
Humbert, F. (6)
Mueller, A. C. (6)
Davies, Faith E. (6)
Morgan, Gareth J. (6)
Campo, C. (6)
Hillengass, J (6)
Kaiser, M. (6)
visa färre...
Lärosäte
Karolinska Institutet (24)
Chalmers tekniska högskola (15)
Lunds universitet (12)
Göteborgs universitet (6)
Uppsala universitet (5)
Karlstads universitet (3)
visa fler...
Kungliga Tekniska Högskolan (2)
Sveriges Lantbruksuniversitet (2)
Linköpings universitet (1)
visa färre...
Språk
Engelska (62)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (24)
Medicin och hälsovetenskap (13)
Teknik (4)
Lantbruksvetenskap (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