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Träfflista för sökning "WFRF:(Pedersen Nancy L.) srt2:(2005-2009)"

Sökning: WFRF:(Pedersen Nancy L.) > (2005-2009)

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1.
  • Birney, Ewan, et al. (författare)
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
  • 2007
  • Ingår i: Nature. - 1476-4687. ; 447:7146, s. 799-816
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.</p>
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2.
  • Birney, Ewan, et al. (författare)
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
  • 2007
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.</p>
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3.
  • Walum, Hasse, et al. (författare)
  • Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans.
  • 2008
  • Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - 1091-6490. ; 105:37, s. 14153-14156
  • Tidskriftsartikel (refereegranskat)abstract
    • Pair-bonding has been suggested to be a critical factor in the evolutionary development of the social brain. The brain neuropeptide arginine vasopressin (AVP) exerts an important influence on pair-bonding behavior in voles. There is a strong association between a polymorphic repeat sequence in the 5' flanking region of the gene (avpr1a) encoding one of the AVP receptor subtypes (V1aR), and proneness for monogamous behavior in males of this species. It is not yet known whether similar mechanisms are important also for human pair-bonding. Here, we report an association between one of the human AVPR1A repeat polymorphisms (RS3) and traits reflecting pair-bonding behavior in men, including partner bonding, perceived marital problems, and marital status, and show that the RS3 genotype of the males also affects marital quality as perceived by their spouses. These results suggest an association between a single gene and pair-bonding behavior in humans, and indicate that the well characterized influence of AVP on pair-bonding in voles may be of relevance also for humans.
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4.
  • Blom, Elin Susanne, et al. (författare)
  • Does APOE explain the linkage of Alzheimer’s disease to chromosome 19q13?
  • 2008
  • Ingår i: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. - 1552-485X. ; 147B:6, s. 778-83
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>We have studied the impact of the apolipoprotein E gene (APOE) on the chromosome 19 linkage peak from an analysis of sib-pairs affected by Alzheimer's disease. We genotyped 417 affected sib-pairs (ASPs) collected in Sweden and Norway (SWE), the UK and the USA for 10 microsatellite markers on chromosome 19. The highest Zlr (3.28, chromosome-wide P-value 0.036) from the multi-point linkage analysis was located approximately 1 Mb from APOE, at marker D19S178. The linkage to chromosome 19 was well explained by APOE in the whole sample as well as in the UK and USA subsamples, as identity by descent (IBD) increased with the number of epsilon 4 alleles in ASPs. There was a suggestion from the SWE subsample that linkage was higher than would be expected from APOE alone, although the test for this did not reach formal statistical significance. There was also a significant age at onset (aao) effect on linkage to chromosome 19q13 in the whole sample, which manifested itself as increased IBD sharing in relative pairs with lower mean aao. This effect was partially, although not completely, explained by APOE. The aao effect varied considerably between the different subsamples, with most of the effect coming from the UK sample. The other samples showed smaller effects in the same direction, but these were not significant.</p>
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5.
  • Brommelhoff, Jessica A, et al. (författare)
  • Depression as a risk factor or prodromal feature for dementia? Findings in a population-based sample of Swedish twins.
  • 2009
  • Ingår i: Psychology and aging. - 0882-7974. ; 24:2, s. 373-84
  • Tidskriftsartikel (refereegranskat)abstract
    • This study tested whether history of depression is associated with an increased likelihood of dementia, and whether a first depressive episode earlier in life is associated with increased dementia risk, or whether only depressive episodes close in time to dementia onset are related to dementia. Depression information came from national hospital discharge registries, medical history, and medical records. Dementia was diagnosed clinically. In case-control results, individuals with recent registry-identified depression were 3.9 times more likely than those with no registry-identified depression history to have dementia, whereas registry-identified depression earlier in life was not associated with dementia risk. Each 1-year increase in time between depression onset and dementia onset or equivalent age decreased the likelihood of dementia by 8.4%. In co-twin control analyses, twins with prior depression were 3.0 times more likely to have dementia than their nondepressed twin partners, with a similar age of depression gradient. These findings suggest that after partially controlling for genetic influences, late-life depression for many individuals may be a prodrome rather than a risk factor for dementia.
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6.
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7.
  • Hefling, L A, et al. (författare)
  • Cancer as a risk factor for long-term cognitive deficits and dementia.
  • 2005
  • Ingår i: Journal of the National Cancer Institute. ; 97:11, s. 854-856
  • Tidskriftsartikel (refereegranskat)abstract
    • Previous studies have shown that cancer survivors frequently experience short-term cognitive deficits, but it is unknown how long these deficits last or whether they worsen over time. Using a co-twin control design, the cognitive function of 702 cancer survivors aged 65 years and older was compared with that of their cancer-free twins. Dementia rates were also compared in 486 of the twin pairs discordant for cancer. Cancer survivors overall, as well as individuals who had survived cancer for 5 or more years before cognitive testing, were more likely than their co-twins to have cognitive dysfunction (odds ratio [OR] = 2.10, 95% confidence interval [CI] = 1.36 to 3.24; P<.001; and OR = 2.71, 95% CI = 1.47 to 5.01; P<.001, respectively). Cancer survivors were also twice as likely to be diag-nosed with dementia as their co-twins, but this odds ratio did not reach statisti-cal significance (OR = 2.0, 95% CI = 0.86 to 4.67; P = .10). These results suggest that cancer patients are at increased risk for long-term cognitive dysfunction compared with individuals who have never had cancer, even after controlling for the influence of genetic factors and rearing environment.
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8.
  • Spotts, Erica L., et al. (författare)
  • Genetic Effects on Women's Positive Mental Health: Do Marital Relationships and Social Support Matter?
  • 2005
  • Ingår i: Journal of Family Psychology. - American Psychological Association (APA). - 0893-3200. ; 19:3, s. 339-349
  • Tidskriftsartikel (övrigt vetenskapligt)abstract
    • Interpersonal relationships are important factors in mental health. A genetically sensitive design was used to examine associations among marital quality, adequacy of social support, and 2 aspects of positive mental health in a sample of 652 Swedish twin women and their families. There were 3 main findings. First, the covariance between relationships and positive mental health was partially accounted for by common genetic variance. Second, nonshared environmental influences played a substantial role in the covariance among the 3 constructs, with evidence for husbands being a source of this influence. Finally, different patterns of associations were found between relationships and 2 aspects of mental health, well-being and global self-worth, which shows how seemingly similar constructs can be differentially associated with relationships. Together, these findings emphasize the importance of genetically informed studies in family research and the role of the environment and interpersonal relationships in promoting and improving mental health. (PsycINFO Database Record (c) 2005 APA, all rights reserved)
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9.
  • Wirdefeldt, Karin, et al. (författare)
  • Complete ascertainment of Parkinson disease in the Swedish Twin Registry
  • 2008
  • Ingår i: Neurobiology of Aging. - Elsevier. - 1558-1497. ; 29:12, s. 1765-1773
  • Tidskriftsartikel (refereegranskat)abstract
    • This report describes the ascertainment of Parkinson disease (PD) in all individuals aged 50 years or older (49,814 individuals) from the Swedish Twin Registry. In phase one of the study, all twins were screened for PD using telephone interviews, with a response rate of 72.7%. In phase two, twins with suspected PD were re-contacted to exclude anyone from follow-up who reported parkinsonian symptoms due to diseases other than PD. In the third phase, in-person clinical evaluations were completed for twins who were still considered PD suspects after phase two and for a sample of co-twins. During the clinical evaluations, we also collected blood samples and information about a variety of environmental exposures. Overall prevalence rate for PD was 496 per 100,000 individuals. Among the 132 PD cases identified, there were only three concordant twin pairs. In total 7.2% of PD cases reported a first degree relative with PD.
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10.
  • Yuh, Jongil, et al. (författare)
  • The role of temperament and social support in depressive symptoms: A twin study of mid-aged women
  • 2008
  • Ingår i: Journal of Affective Disorders. - Elsevier. - 1573-2517. ; 106:1-2, s. 99-105
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Although research has found that temperament and social support are associated with depression, these relationships have not been explored in conjunction with one another as they relate to depression using a genetically informative design. This study investigated how the association among the three constructs is mediated. Methods: The sample in this study consisted of 326 pairs of adult monozygotic and dizygotic twins drawn from the Swedish Twin Registry. Twins were mothers of adolescent from married or partnered relationships. The genetic and environmental contributions to the association were evaluated by self-reported measures of temperament, social support, and depressive symptoms. Results: Multivariate genetic model fitting revealed that a moderate portion of genetic influences were common among the three central constructs of harm avoidance, perceived social support, and depressive symptoms. Limitations: The results may not be generalizable to depressive disorders in clinical settings. The measures were self-reported from a cross-sectional study. Conclusions: The findings suggest that the heritable component may contribute to genetic influences on an individual's ability to secure social support and thus to genetic risk for depressive symptomatology in women.
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