SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Williams Christina) "

Sökning: WFRF:(Williams Christina)

  • Resultat 1-10 av 44
  • [1]2345Nästa
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Marshall, Christian R., et al. (författare)
  • Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
  • 2017
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 49:1, s. 27-35
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.</p>
  •  
2.
  • Purcell, Shaun M., et al. (författare)
  • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
  • 2009
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 460:7256, s. 748-752
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%(1,2). We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of schizophrenia. First, we implicate the major histocompatibility complex. Second, we provide molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia involving thousands of common alleles of very small effect. We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases.</p>
  •  
3.
  • Ripke, Stephan, et al. (författare)
  • Biological insights from 108 schizophrenia-associated genetic loci
  • 2014
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 511:7510, s. 421-427
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia.</p>
  •  
4.
  •  
5.
  • Alfoeldi, Jessica, et al. (författare)
  • The genome of the green anole lizard and a comparative analysis with birds and mammals
  • 2011
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 477:7366, s. 587-591
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The evolution of the amniotic egg was one of the great evolutionary innovations in the history of life, freeing vertebrates from an obligatory connection to water and thus permitting the conquest of terrestrial environments(1). Among amniotes, genome sequences are available for mammals and birds(2-4), but not for non-avian reptiles. Here we report the genome sequence of the North American green anole lizard, Anolis carolinensis. We find that A. carolinensis microchromosomes are highly syntenic with chicken microchromosomes, yet do not exhibit the high GC and low repeat content that are characteristic of avian microchromosomes(2). Also, A. carolinensis mobile elements are very young and diverse-more so than in any other sequenced amniote genome. The GC content of this lizard genome is also unusual in its homogeneity, unlike the regionally variable GC content found in mammals and birds(5). We describe and assign sequence to the previously unknown A. carolinensis X chromosome. Comparative gene analysis shows that amniote egg proteins have evolved significantly more rapidly than other proteins. An anole phylogeny resolves basal branches to illuminate the history of their repeated adaptive radiations.</p>
  •  
6.
  • Aquila, Andrew, et al. (författare)
  • Time-resolved protein nanocrystallography using an X-ray free-electron laser
  • 2012
  • Ingår i: Optics Express. - 1094-4087 .- 1094-4087. ; 20:3, s. 2706-2716
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We demonstrate the use of an X-ray free electron laser synchronized with an optical pump laser to obtain X-ray diffraction snapshots from the photoactivated states of large membrane protein complexes in the form of nanocrystals flowing in a liquid jet. Light-induced changes of Photosystem I-Ferredoxin co-crystals were observed at time delays of 5 to 10 µs after excitation. The result correlates with the microsecond kinetics of electron transfer from Photosystem I to ferredoxin. The undocking process that follows the electron transfer leads to large rearrangements in the crystals that will terminally lead to the disintegration of the crystals. We describe the experimental setup and obtain the first time-resolved femtosecond serial X-ray crystallography results from an irreversible photo-chemical reaction at the Linac Coherent Light Source. This technique opens the door to time-resolved structural studies of reaction dynamics in biological systems.</p>
  •  
7.
  • Aquila, Andrew, et al. (författare)
  • Time-resolved protein nanocrystallography using an X-ray free-electron laser.
  • 2012
  • Ingår i: Optics express. - 1094-4087. ; 20:3, s. 2706-16
  • Tidskriftsartikel (refereegranskat)abstract
    • We demonstrate the use of an X-ray free electron laser synchronized with an optical pump laser to obtain X-ray diffraction snapshots from the photoactivated states of large membrane protein complexes in the form of nanocrystals flowing in a liquid jet. Light-induced changes of Photosystem I-Ferredoxin co-crystals were observed at time delays of 5 to 10 µs after excitation. The result correlates with the microsecond kinetics of electron transfer from Photosystem I to ferredoxin. The undocking process that follows the electron transfer leads to large rearrangements in the crystals that will terminally lead to the disintegration of the crystals. We describe the experimental setup and obtain the first time-resolved femtosecond serial X-ray crystallography results from an irreversible photo-chemical reaction at the Linac Coherent Light Source. This technique opens the door to time-resolved structural studies of reaction dynamics in biological systems.
  •  
8.
  • Assimes, Themistocles L., et al. (författare)
  • Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
  • 2010
  • Ingår i: Journal of the American College of Cardiology. - Elsevier USA. - 0735-1097. ; 56:19, s. 1552-1563
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
  •  
9.
  • Bancroft, Elizabeth K, et al. (författare)
  • Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
  • 2014
  • Ingår i: European urology. - 1873-7560. ; 66:3, s. 489-499
  • Tidskriftsartikel (refereegranskat)abstract
    • Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations.
  •  
10.
  • Berger, Ashton C, et al. (författare)
  • A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers.
  • 2018
  • Ingår i: Cancer Cell. - 1535-6108 .- 1878-3686. ; 33:4, s. 690-705.e9
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We analyzed molecular data on 2,579 tumors from The Cancer Genome Atlas (TCGA) of four gynecological types plus breast. Our aims were to identify shared and unique molecular features, clinically significant subtypes, and potential therapeutic targets. We found 61 somatic copy-number alterations (SCNAs) and 46 significantly mutated genes (SMGs). Eleven SCNAs and 11 SMGs had not been identified in previous TCGA studies of the individual tumor types. We found functionally significant estrogen receptor-regulated long non-coding RNAs (lncRNAs) and gene/lncRNA interaction networks. Pathway analysis identified subtypes with high leukocyte infiltration, raising potential implications for immunotherapy. Using 16 key molecular features, we identified five prognostic subtypes and developed a decision tree that classified patients into the subtypes based on just six features that are assessable in clinical laboratories.</p>
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 44
  • [1]2345Nästa
Åtkomst
fritt online (8)
Typ av publikation
tidskriftsartikel (41)
annan publikation (1)
konferensbidrag (1)
forskningsöversikt (1)
Typ av innehåll
refereegranskat (40)
övrigt vetenskapligt (4)
Författare/redaktör
Bogan, Michael J (12)
Seibert, M Marvin, (11)
Williams, Garth J (11)
Hampton, Christina Y ... (11)
Boutet, Sébastien (10)
Sierra, Raymond G (9)
visa fler...
Messerschmidt, Marc (9)
Barty, Anton (9)
Starodub, Dmitri (9)
Martin, Andrew V. (8)
DePonte, Daniel P. (8)
Shoeman, Robert L (7)
Doak, R Bruce (7)
Aquila, Andrew (7)
Chapman, Henry N. (7)
Caleman, Carl (7)
Fromme, Petra (7)
White, Thomas A. (7)
Liang, Mengning (7)
Lomb, Lukas (7)
Schlichting, Ilme (7)
Graafsma, Heinz, (6)
Hirsemann, Helmut, (6)
Hajdu, Janos, (6)
Erk, Benjamin, (6)
Rudenko, Artem, (6)
Rolles, Daniel, (6)
Andreasson, Jakob, (6)
Timneanu, Nicusor, (6)
Foucar, Lutz (6)
Hartmann, Robert (6)
Rudek, Benedikt (6)
Maia, Filipe R. N. C ... (6)
Hunter, Mark S. (6)
Kirian, Richard A. (6)
Bajt, Saša (6)
Barthelmess, Miriam (6)
Bostedt, Christoph (6)
Bozek, John D. (6)
Coppola, Nicola (6)
Epp, Sascha W. (6)
Gumprecht, Lars (6)
Holl, Peter (6)
Kimmel, Nils (6)
Nass, Karol (6)
Reich, Christian (6)
Schulz, Joachim (6)
Soltau, Heike (6)
Stern, Stephan (6)
Ullrich, Joachim (6)
visa färre...
Lärosäte
Uppsala universitet (17)
Lunds universitet (9)
Stockholms universitet (7)
Göteborgs universitet (4)
Umeå universitet (3)
Kungliga Tekniska Högskolan (2)
visa fler...
Karolinska Institutet (2)
Luleå tekniska universitet (1)
Chalmers tekniska högskola (1)
Naturhistoriska riksmuseet (1)
visa färre...
Språk
Engelska (42)
Svenska (1)
Forskningsämne (UKÄ/SCB)
Naturvetenskap (27)
Medicin och hälsovetenskap (16)
Lantbruksvetenskap (2)
Samhällsvetenskap (2)
Teknik (1)

År

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy