SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(MacGregor S.) "

Sökning: WFRF:(MacGregor S.)

  • Resultat 1-10 av 62
  • [1]234567Nästa
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  •  
3.
  •  
4.
  •  
5.
  • Su, Zhan, et al. (författare)
  • Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
  • 2012
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 44:10
  • Tidskriftsartikel (refereegranskat)abstract
    • Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
  •  
6.
  • Herrick, A. L., et al. (författare)
  • Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study
  • 2018
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ Publishing Group. - 0003-4967. ; 77:4, s. 563-570
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives Our aim was to use the opportunity provided by the European Scleroderma Observational Study to (1) identify and describe those patients with early diffuse cutaneous systemic sclerosis (dcSSc) with progressive skin thickness, and (2) derive prediction models for progression over 12 months, to inform future randomised controlled trials (RCTs). Methods The modified Rodnan skin score (mRSS) was recorded every 3 months in 326 patients. 'Progressors' were defined as those experiencing a 5-unit and 25% increase in mRSS score over 12 months (±3 months). Logistic models were fitted to predict progression and, using receiver operating characteristic (ROC) curves, were compared on the basis of the area under curve (AUC), accuracy and positive predictive value (PPV). Results 66 patients (22.5%) progressed, 227 (77.5%) did not (33 could not have their status assessed due to insufficient data). Progressors had shorter disease duration (median 8.1 vs 12.6 months, P=0.001) and lower mRSS (median 19 vs 21 units, P=0.030) than non-progressors. Skin score was highest, and peaked earliest, in the anti-RNA polymerase III (Pol3+) subgroup (n=50). A first predictive model (including mRSS, duration of skin thickening and their interaction) had an accuracy of 60.9%, AUC of 0.666 and PPV of 33.8%. By adding a variable for Pol3 positivity, the model reached an accuracy of 71%, AUC of 0.711 and PPV of 41%. Conclusions Two prediction models for progressive skin thickening were derived, for use both in clinical practice and for cohort enrichment in RCTs. These models will inform recruitment into the many clinical trials of dcSSc projected for the coming years. Trial registration number NCT02339441. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
  •  
7.
  • Bryant, J. M., et al. (författare)
  • Emergence and spread of a human-transmissible multidrug-resistant nontuberculous mycobacterium
  • 2016
  • Ingår i: Science. - 0036-8075. ; 354:6313, s. 751-757
  • Tidskriftsartikel (refereegranskat)abstract
    • Lung infections with Mycobacterium abscessus, a species of multidrug-resistant nontuberculous mycobacteria, are emerging as an important global threat to individuals with cystic fibrosis (CF), in whom M. abscessus accelerates inflammatory lung damage, leading to increased morbidity and mortality. Previously, M. abscessus was thought to be independently acquired by susceptible individuals from the environment. However, using whole-genome analysis of a global collection of clinical isolates, we show that the majority of M. abscessus infections are acquired through transmission, potentially via fomites and aerosols, of recently emerged dominant circulating clones that have spread globally. We demonstrate that these clones are associated with worse clinical outcomes, show increased virulence in cell-based and mouse infection models, and thus represent an urgent international infection challenge.
  •  
8.
  • Justice, Anne E., et al. (författare)
  • Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
  • 2019
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
  • Tidskriftsartikel (refereegranskat)abstract
    • Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
  •  
9.
  •  
10.
  • Wadsworth, R., et al. (författare)
  • Spin-gap Isomer in 96Cd
  • 2012
  • Ingår i: Journal of Physics: Conference Series. - : IOP Publishing. - 1742-6596 .- 1742-6588. ; 381
  • Tidskriftsartikel (refereegranskat)abstract
    • Evidence has been obtained for the existence of the long predicted 16+ spin-gap isomer in 96Cd. The decay of the isomer was identified and studied following the use of an 850 MeV/u beam of 124Xe impinging on a Be target and the fragment recoil separator at the GSI Laboratory. Gamma decays from the fragments were detected using the RISING gamma ray array, in its stopped beam configuration, plus a silicon active stopper. The data obtained have been compared with shell model predictions, which indicate that the isoscalar neutron-proton interaction plays a key role in the formation of the isomer.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 62
  • [1]234567Nästa
Typ av publikation
tidskriftsartikel (59)
konferensbidrag (3)
Typ av innehåll
refereegranskat (60)
övrigt vetenskapligt (2)
Författare/redaktör
MacGregor, Stuart (22)
Liu, G (15)
Bernstein, L (15)
Risch, HA (14)
Wu, AH (13)
Chow, WH (12)
visa fler...
Martin, NG (12)
Montgomery, GW (12)
Corley, DA (12)
Gammon, MD (11)
Hayward, NK (11)
Amos, CI (10)
Lagergren, J (10)
Brown, KM (10)
Demenais, F (10)
Hansson, J. (9)
Olsson, H. (9)
Easton, DF (9)
Ye, WM (9)
Nyholt, DR (9)
Bishop, DT (9)
Goldstein, AM (9)
Debniak, T (9)
Puig, S (9)
Friedman, E. (8)
Lubinski, J (8)
Gillanders, EM (8)
Lee, JE (8)
Risch, Harvey A (8)
Hocevar, M (8)
Montgomery, Grant W. (7)
Martin, Nicholas G. (7)
Tomlinson, I (7)
Dunning, AM (7)
Pharoah, PDP (7)
Akslen, LA (7)
Molven, A (7)
Amos, Christopher I. (7)
Hayward, Nicholas K (7)
Ingvar, C (7)
Bishop, D Timothy (7)
Wu, Anna H. (7)
Corley, Douglas A. (7)
Bernstein, Leslie (7)
Landi, Maria Teresa (7)
Goldstein, Alisa M. (7)
Demenais, Florence (7)
Iles, Mark M. (7)
Hoiom, V (7)
Barrett, JH (7)
visa färre...
Lärosäte
Karolinska Institutet (35)
Lunds universitet (19)
Uppsala universitet (14)
Göteborgs universitet (8)
Umeå universitet (4)
Kungliga Tekniska Högskolan (2)
visa fler...
Chalmers tekniska högskola (2)
Ersta Sköndal Bräcke högskola (2)
Stockholms universitet (1)
Linköpings universitet (1)
Sveriges Lantbruksuniversitet (1)
visa färre...
Språk
Engelska (62)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (26)
Naturvetenskap (10)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy