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Sökning: WFRF:(Mcgrath Patrick)

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1.
  • Blanton, Michael R., et al. (författare)
  • Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
  • 2017
  • Ingår i: Astronomical Journal. - The American Astronomical Society. - 0004-6256. ; 154:1
  • Forskningsöversikt (refereegranskat)abstract
    • We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z ∼ 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z ~ 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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2.
  • de Jong, Simone, et al. (författare)
  • Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
  • 2018
  • Ingår i: Communications Biology. - Nature Publishing Group. - 2399-3642. ; 1
  • Tidskriftsartikel (refereegranskat)abstract
    • Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
3.
  • Ripke, Stephan, et al. (författare)
  • A mega-analysis of genome-wide association studies for major depressive disorder
  • 2013
  • Ingår i: Molecular psychiatry. - 1476-5578. ; 18:4, s. 497-511
  • Tidskriftsartikel (refereegranskat)abstract
    • Prior genome-wide association studies (GWAS) of major depressive disorder (MDD) have met with limited success. We sought to increase statistical power to detect disease loci by conducting a GWAS mega-analysis for MDD. In the MDD discovery phase, we analyzed more than 1.2 million autosomal and X chromosome single-nucleotide polymorphisms (SNPs) in 18 759 independent and unrelated subjects of recent European ancestry (9240 MDD cases and 9519 controls). In the MDD replication phase, we evaluated 554 SNPs in independent samples (6783 MDD cases and 50 695 controls). We also conducted a cross-disorder meta-analysis using 819 autosomal SNPs with P<0.0001 for either MDD or the Psychiatric GWAS Consortium bipolar disorder (BIP) mega-analysis (9238 MDD cases/8039 controls and 6998 BIP cases/7775 controls). No SNPs achieved genome-wide significance in the MDD discovery phase, the MDD replication phase or in pre-planned secondary analyses (by sex, recurrent MDD, recurrent early-onset MDD, age of onset, pre-pubertal onset MDD or typical-like MDD from a latent class analyses of the MDD criteria). In the MDD-bipolar cross-disorder analysis, 15 SNPs exceeded genome-wide significance (P<5 × 10(-8)), and all were in a 248 kb interval of high LD on 3p21.1 (chr3:52 425 083-53 822 102, minimum P=5.9 × 10(-9) at rs2535629). Although this is the largest genome-wide analysis of MDD yet conducted, its high prevalence means that the sample is still underpowered to detect genetic effects typical for complex traits. Therefore, we were unable to identify robust and replicable findings. We discuss what this means for genetic research for MDD. The 3p21.1 MDD-BIP finding should be interpreted with caution as the most significant SNP did not replicate in MDD samples, and genotyping in independent samples will be needed to resolve its status.
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4.
  • Anney, Richard, et al. (författare)
  • A genome-wide scan for common alleles affecting risk for autism.
  • 2010
  • Ingår i: Human Molecular Genetics. - 0964-6906. ; 19:20, s. 4072-4082
  • Tidskriftsartikel (refereegranskat)abstract
    • Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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5.
  • Casey, Jillian P, et al. (författare)
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
  • 2012
  • Ingår i: Human Genetics. - 0340-6717. ; 131:4, s. 565-579
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
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6.
  • Friedrich, Felix W., et al. (författare)
  • Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
  • 2012
  • Ingår i: Human Molecular Genetics. - Oxford University Press. - 0964-6906. ; 21:14, s. 3237-3254
  • Tidskriftsartikel (refereegranskat)abstract
    • Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM is caused by mutations in sarcomeric genes, but in 40 of patients, the mutation is not yet identified. We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes associated with cardiomyopathy. We evaluated 121 HCM patients, devoid of a mutation in known disease genes. We identified three novel variants in FHL1 (c.134delA/K45Sfs, c.459CA/C153X and c.827GC/C276S). Whereas the c.459CA variant was associated with muscle weakness in some patients, the c.134delA and c.827GC variants were associated with isolated HCM. Gene transfer of the latter variants in C2C12 myoblasts and cardiac myocytes revealed reduced levels of FHL1 mutant proteins, which could be rescued by proteasome inhibition. Contractility measurements after adeno-associated virus transduction in rat-engineered heart tissue (EHT) showed: (i) higher and lower forces of contraction with K45Sfs and C276S, respectively, and (ii) prolonged contraction and relaxation with both mutants. All mutants except one activated the fetal hypertrophic gene program in EHT. In conclusion, this study provides evidence for FHL1 to be a novel gene for isolated HCM. These data, together with previous findings of proteasome impairment in HCM, suggest that FHL1 mutant proteins may act as poison peptides, leading to hypertrophy, diastolic dysfunction and/or altered contractility, all features of HCM.
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7.
  • Kristjánsdóttir, Ólöf, et al. (författare)
  • A systematic review of cross-cultural comparison studies of child, parent, and health professional outcomes associated with pediatric medical procedures
  • 2012
  • Ingår i: Journal of Pain. - Elsevier. - 1526-5900. ; 13:3, s. 207-219
  • Forskningsöversikt (refereegranskat)abstract
    • The purpose of this review was to evaluate systematically all published and unpublished research concerning culture and medical procedural pain in children. Databases, reference lists, and electronic list servers were searched as data sources. Fifteen studies met the inclusion criteria. Most studies (80%) were conducted solely in the United States comparing Caucasian American groups to other local subculture(s) (ie, African American, Hispanic, or Japanese). The studies compared, cross culturally, pediatric pain-related outcomes in children, parents and/or health professionals. The medical procedural experiences included surgery, immunization, spinal tap, bone marrow aspiration, needle procedures, orthopedic, and wound-related injuries. The evidence published to date suggests that cultural factors may be associated with children's pain experiences when elicited by medical procedural pain, specifically children's pain behavior. Nevertheless, research using more sophisticated research methods is needed to develop culturally sensitive behavioral pain measures. Measures that include physiological pain parameters in addition to other behavioral outcomes may be helpful. Culturally comparative research would benefit from the use of theoretical frameworks to advance our understanding of the cultural underpinnings of child pain development and guide future research.PERSPECTIVE:The current evidence supports that children and parents belonging to cultural minority groups, and in need of health care, are a vulnerable population. Together, researchers and clinicians are encouraged to explore this understudied area, and take advantage of sophisticated methods developed by disciplines like cross-cultural psychology.
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8.
  • Kristjansdottir, Olof, et al. (författare)
  • Cultural influences on parental responses to children's pain
  • 2018
  • Ingår i: Pain. - Elsevier. - 0304-3959. ; 159:10, s. 2035-2049
  • Tidskriftsartikel (refereegranskat)abstract
    • There is a scarcity of work examining the relationship between culture and pain-related caregiver behaviors. Moreover, no pediatric pain studies have examined the relationship between caregiver cultural values and pain-related caregiver behaviors nor discern if this process is mediated by caregiver parenting styles and moderated by ecosocial context. Based on cross-cultural developmental theories, this study hypothesized that ecosocial context would moderate the relationship between cultural values, parenting styles, and pain-related caregiver behaviors; and that parenting styles mediate the effect of cultural values on pain-related caregiver behaviors. A cross-cultural survey design was employed using a convenience sample of 547 caregivers of 6 to 12 year olds living in Canada (n 5 183), Iceland (n 5 184), and Thailand (n 5 180). Multigroup structural equation modeling showed that ecosocial context did not affect which cultural model of parenting the caregiver adopted. Parenting styles mediated the relationship between cultural values and pain-related caregiver behavior. Vertical/horizontal individualism, collectivism, and authoritative-and authoritarian-parenting styles positively predicted solicitousness. Vertical individualism and authoritarian-parenting style positively predicted discouraging behavior, whereas other predictors did not. The findings support the sociocommunication model of children's pain by showing that cultural context does affect parents' behaviors. They also corroborate with others' claims of solicitousness universality in a pediatric pain context. However, solicitousness may have different cultural meanings among individuals and may be used in conjunction with discouraging behavior. The findings from this study have implications for the theory development about culture and pediatric pain, but do not provide specific clinical recommendations.
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9.
  • Kristjánsdóttir, Ólöf, et al. (författare)
  • Does culture influence pain-related parent behaviors?
  • 2018
  • Ingår i: Canadian Journal of Pain. - Taylor & Francis. - 2474-0527. ; 2:1, s. 146-146
  • Konferensbidrag (refereegranskat)abstract
    • Introduction/Aim: Studies suggest that cultural models of parenting (CMP) influence parental behaviors. Predominant cultural values are believed to inform the parenting styles caregivers adopt. Cultural values were expected to affect parental behaviors indirectly through parenting styles. We believed this would be moderated by ecosocial context. The present study aimed to examine cultural influences on pain-related parent-behaviors (PRPB). We hypothesized that ecosocial context would moderate the relationship between cultural values, parenting styles, and PRPB; and parenting styles would mediate the effect of cultural values on PRPB. Methods: A cross-cultural survey design was employed using a convenience sample of 547 caregivers of 6–12-year-olds living in Canada (n = 183), Iceland (n = 184), and Thailand (n = 180). The individualism-collectivism scale measured verticaland horizontal individualism, and collectivism. The parenting styles and dimensions questionnaire measured authoritative, and authoritarian parenting styles. The inventory of parent/caregiver responses to the children’s pain experience scale measured solicitousness and discouraging.Results: Multigroup structural equation modeling, showed that country did not affect which CMP caregivers adopted. Parenting styles mediated the relationship between cultural values and PRPB. Vertical/horizontal individualism, collectivism, and authoritative and authoritarian-parenting styles positively predicted solicitousness. Vertical individualism and authoritarian-parenting style positively predicted discouraging, whereas other predictors did not. Discussion/Conclusions: Unexpectedly, ecosocial context did not influence which CMP caregivers adopt, including their PRPB. As expected, parenting styles were mediators. Results supports others’ claims of solicitousness universality in a pediatric pain context. However, solicitousness may have different cultural meanings among individuals, and may be used in conjunction with discouraging.
10.
  • McGrath, Patrick J., et al. (författare)
  • Core outcome domains and measures for pediatric acute and chronic/recurrent pain clinical trials : PedIMMPACT recommendations
  • 2008
  • Ingår i: Journal of Pain. - 1526-5900 .- 1528-8447. ; 9:9, s. 771-83
  • Tidskriftsartikel (refereegranskat)abstract
    • Under the auspices of the Initiative on Methods, Measurement, and Pain Assessment in Clinical Trials (IMMPACT), 26 professionals from academia, governmental agencies, and the pharmaceutical industry participated in a 2-stage Delphi poll and a consensus meeting that identified core outcome domains and measures that should be considered in clinical trials of treatments for acute and chronic pain in children and adolescents. Consensus was refined by consultation with the international pediatric pain community through announcement of our recommendations on the Pediatric Pain List and inviting and incorporating comments from external sources. There was consensus that investigators conducting pediatric acute pain clinical trials should consider assessing outcomes in pain intensity; global judgment of satisfaction with treatment; symptoms and adverse events; physical recovery; emotional response; and economic factors. There was also agreement that investigators conducting pediatric clinical trials in chronic and recurrent pain should consider assessing outcomes in pain intensity; physical functioning; emotional functioning; role functioning; symptoms and adverse events; global judgment of satisfaction with treatment; sleep; and economic factors. Specific measures or measurement strategies were recommended for different age groups for each domain. PERSPECTIVE: Based on systematic review and consensus of experts, core domains and measures for clinical trials to treat pain in children and adolescents were defined. This will assist in comparison and pooling of data and promote evidence-based treatment, encourage complete reporting of outcomes, simplify the review of proposals and manuscripts, and facilitate clinicians making informed decisions regarding treatment.
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