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Sökning: L773:0004 2005

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1.
  • Sandrini, Michael, et al. (författare)
  • Deoxyribonucleoside kinases: two enzyme families catalyze the same reaction
  • 2005
  • Ingår i: Trends in Biochemical Sciences. - : Elsevier BV. - 0167-7640 .- 0968-0004. ; 30:5, s. 225-228
  • Tidskriftsartikel (refereegranskat)abstract
    • Mammals have four deoxyribonucleoside kinases, the cytoplasmic (TK1) and mitochondrial (TK2) thymidine kinases, and the deoxycytidine (dCK) and deoxyguanosine (dGK) kinases, which salvage the precursors for nucleic acids synthesis. In addition to the native deoxyribonucleoside substrates, the kinases can phosphorylate and thereby activate a variety of anti-cancer and antiviral prodrugs. Recently, the crystal structure of human TK1 has been solved and has revealed that enzymes with fundamentally different origins and folds catalyze similar, crucial cellular reactions.
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2.
  • Widmalm, Sten, 1964- (författare)
  • Explaining corruption at the village and individual level in India : Findings from a study of the Panchayati Raj reforms
  • 2005
  • Ingår i: Asian Survey. - : University of California Press. - 0004-4687 .- 1533-838X. ; 45:5, s. 756-776
  • Tidskriftsartikel (refereegranskat)abstract
    • This study of decentralization reforms in India challenges the assumption that corruption should be seen as a function of culture. At the individual level, the capacity to distinguish between public and private sectors is important for rejecting the use of bribes to public sector employees, while at the aggregate level social capital plays an important role for resisting corruption.
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3.
  • Larsson, Leo, et al. (författare)
  • Carlson type inequalities for finite sums and integrals on bounded intervals
  • 2005
  • Ingår i: Bulletin of the Australian Mathematical Society. - 0004-9727 .- 1755-1633. ; 71:2, s. 275-284
  • Tidskriftsartikel (refereegranskat)abstract
    • We investigate Carlson type inequalities for finite sums, that is, inequalities of the form ∑mk=1ak < C (∑mk=1ka1akr+1) μ(∑mk=1ka2akr+1)λ, to hold for some constant C independent of the finite, non-zero set a1,⋯,am of non-negative numbers. We find constants C which are strictly smaller than the sharp constants in the corresponding infinite series case. Moreover, corresponding results for integrals over bounded intervals are given and a case with any finite number of factors on the right-hand side is proved
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7.
  • Brodin, Anders (författare)
  • Hippocampal volume does not correlate with food-hoarding rates in the Black-capped Chickadee (Poecile atricapillus) and Willow Tit (Parus montanus)
  • 2005
  • Ingår i: The Auk. - 0004-8038. ; 122:3, s. 819-828
  • Tidskriftsartikel (refereegranskat)abstract
    • Food-hoarding birds use memory to relocate caches, and species that store thousands of scattered food items must have an extraordinary memory capacity to be able to relocate them. Because the hippocampus is important in the functioning of spatial memory, it is logical to assume that the amount of food stored should correlate with hippocampal volume. Previously, food-hoarding capacity has been used as the predictor variable for hippocampal volume. Using the opposite approach, I tested whether hippocampal volume can be used to predict the amount of food stored. The atricapilla complex, a superspecies in the Paridae, has a wide Holarctic distribution, with the Black-capped Chickadee (Poecile atricapillus) in America and the Willow Tit (Parus montanus) in Eurasia. Although they live in similar ecological conditions, the Willow Tit possesses a hippocampus almost twice the size of the Black-capped Chickadee's. I sampled hoarding intensities in Black-capped Chickadees in British Columbia with the same methods I used previously in Willow Tits in Sweden. Contrary to expectation, Black-capped Chickadees stored at the same high rates as Willow Tits, which suggests that both species are large-scale hoarders. I discuss possible explanations for why the difference in hippocampal volume did not translate into differences in food-hoarding rates.
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8.
  • Hu, F.Z., et al. (författare)
  • Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family
  • 2005
  • Ingår i: Clinical Genetics. - Oxford : Wiley. - 0009-9163 .- 1399-0004. ; 68:5, s. 424-429
  • Tidskriftsartikel (refereegranskat)abstract
    • Dupuytren's contracture (DC) (OMIM 126900) is the most common connective tissue disease of mankind and has both heritable and sporadic forms. The inherited form is most frequently observed among the xanthochroi peoples of Northern Europe where its most common manifestations are thickening of the palmar fascia and contracture of the fingers. We ascertained a five-generation Swedish family in which DC is inherited in an autosomal dominant manner with high, but incomplete, penetrance by the end of the fifth decade. Blood was collected from all affected and informative unaffected family members for the performance of a genome-wide scan at a resolution of approximately 8 cM for all autosomes. Linkage was established to a single 6 cM region between markers D 16S419 and D 16S3032 on chromosome 16. A maximal two-point logarithm of odds (LOD) score of 3.18 was achieved at microsatellite marker D16S415 with four other markers in the region producing LODs of > 1.5. © Blackwell Munksgaard, 2005.
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9.
  • Cederquist, Kristina, et al. (författare)
  • Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.
  • 2005
  • Ingår i: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 68:6, s. 533-541
  • Tidskriftsartikel (refereegranskat)abstract
    • Lynch syndrome, or hereditary non-polyposis colorectal cancer (HNPCC), is a cancer susceptibility syndrome caused by germline mutations in mismatch-repair genes, predominantly MLH1, MSH2 and MSH6. A majority of the mutations reported are truncating, but for MSH6, missense mutations constitute over one third. Few have been proven pathogenic in functional studies or shown to segregate in families. In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree. Another large family with the MSH6 nonsense c.2931C>G, p.Tyr977X mutation is similar in tumour spectra, age of onset and cumulative risk. These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%). The gender differences are in part explained by high endometrial (70%) and ovarian (33%) cancer risks added upon the high colorectal cancer risk (60%). The several occurrences of breast cancer are not due to the MSH6 mutations. These findings are of great importance for counselling, management and surveillance of families with MSH6 mutations.
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10.
  • Soldani, F, et al. (författare)
  • Mania in the Swedish Twin Registry: criterion validity and prevalence
  • 2005
  • Ingår i: The Australian and New Zealand journal of psychiatry. - : SAGE Publications. - 0004-8674 .- 1440-1614. ; 39:4, s. 235-243
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: In population surveys, the assessment of mania is commonly done by trained lay interviewers using structured diagnostic instruments: the validity of this approach has been questioned. We examined the criterion validity and prevalence of lifetime mania in a survey of Swedish twins conducted with interview methodology usually applied in psychiatric epidemiology. Methods: 41 838 individuals in the Swedish Twin Registry were evaluated via a telephone interview that included the eight DSM-IV mania items, and these data were merged with inpatient hospitalization discharge diagnoses from two comprehensive national registries (the criterion). An algorithm with eight cut-points was used to diagnose lifetime mania, and compared by a receiver operator characteristic curve to the criterion. The algorithm requiring at least four positive items resembling a DSM-IV diagnosis. Results: History of hospitalization for a psychiatric condition that included a manic episode was present for 0.7% of all living twins, and predicted non-response to the survey (OR = 0.5; 95% CI = 0.4–0.6). The incidence rate for first hospitalization was 2.1/10 000 year –1. For ≥1 symptom (first cut-point), the prevalence, sensitivity and specificity were 3.6%, 39.0% and 96.6%; for ≥ 4 symptoms (DSM-IV-like cut-point) 2.6%, 36.5% and 97.6%; and for eight symptoms 0.3%, 18.0% and 99.8%. Positive predictive values were, respectively, 5.5%, 7.0% and 29.8%. Conclusions: The performance of the telephone screening for mania by lay interviewers in terms of positive predictive power was not satisfactory; despite a high specificity, the false positive rate was high. The low population prevalence of mania, non-response bias, criterion choice and inherent limitations of the interviewing method are among the explanations. Assessment of a lifetime manic episode based on lay interviewer screening may yield misleading data.
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