1. |
- Hillier, Ladeana W, et al.
(author)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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In: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Journal article (peer-reviewed)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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2. |
- Bower, K. N., et al.
(author)
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ACE-2 HILLCLOUD. An overview of the ACE-2 ground-based cloud experiment
- 2000
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In: Tellus. Series B: Chemical and Physical Meteorology. - : Stockholm University Press. - 0280-6509. ; 52:2, s. 750-778
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Journal article (peer-reviewed)abstract
- The ACE-2 HILLCLOUD experiment was carried out on the island of Tenerife in June-July 1997 to investigate the interaction of the boundary layer aerosol with a hill cap cloud forming over a ridge to the north-east of the island. The cloud was used as a natural flow through reactor to investigate the dependence of the cloud microphysics and chemistry on the characteristics of the aerosols and trace gases entering cloud, and to simultaneously study the influence of the physical and chemical processes occurring within the cloud on the size distribution, chemical and hygroscopic properties of the aerosol exiting cloud. 5 major ground base sites were used, measuring trace gases and aerosols upwind and downwind of the cloud, and cloud microphysics and chemistry and interstitial aerosol and gases within the cloud on the hill. 8 intensive measurement periods or runs were undertaken during cloud events, (nocturnally for seven of the eight runs) and were carried out in a wide range of airmass conditions from clean maritime to polluted continental. Polluted air was characterised by higher than average concentrations of ozone (> 50 ppbv), fine and accumulation mode aerosols (> 3000 and > 1500 cm -3 , respectively) and higher aerosol mass loadings. Cloud droplet number concentrations N, increased from 50 cm -3 in background maritime air to > 2500 cm -3 in aged polluted continental air, a concentration much higher than had previously been detected. Surprisingly, N was seen to vary almost linearly with aerosol number across this range. The droplet aerosol analyser (DAA) measured higher droplet numbers than the corrected forward scattering spectrometer probe (FSSP) in the most polluted air, but at other times there was good agreement (FSSP = 0.95 DAA with an r 2 = 0.89 for N < 1200 cm -3 ). Background ammonia gas concentrations were around 0.3 ppbv even in air originating over the ocean, another unexpected but important result for the region. NO 2 was present in background concentrations of typically 15 pptv to 100 pptv and NO 3 . (the nitrate radical) was observed at night throughout. Calculations suggest NO 3 . losses were mainly by reaction with DMS to produce nitric acid. Low concentrations of SO 2 (~30 pptv), HNO 3 and HCl were always present. HNO 3 concentrations were higher in polluted episodes and calculations implied that these exceeded those which could be accounted for by NO 2 oxidation. It is presumed that nitric and hydrochloric acids were present as a result of outgassing from aerosol, the HNO 3 from nitrate rich aerosol transported into the region from upwind of Tenerife, and HCl from sea salt aerosol newly formed at the sea surface. The oxidants hydrogen peroxide and ozone were abundant (i.e., were well in excess over SO 2 throughout the experiment). Occasions of significant aerosol growth following cloud processing were observed, particularly in cleaner cases. Observations and modelling suggested this was due mainly to the take up of nitric acid, hydrochloric acid and ammonia by the smallest activated aerosol particles. On a few occasions a small contribution was made by the in-cloud oxidation of S(IV). The implications of these results from HILLCLOUD for the climatologically more important stratocumulus Marine Boundary Layer (MBL) clouds are considered.
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3. |
- Aspholm-Hurtig, Marina, et al.
(author)
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Functional adaptation of BabA, the H. pylori ABO blood group antigen binding adhesin.
- 2004
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In: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 305:5683, s. 519-22
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Journal article (peer-reviewed)abstract
- Adherence by Helicobacter pylori increases the risk of gastric disease. Here, we report that more than 95% of strains that bind fucosylated blood group antigen bind A, B, and O antigens (generalists), whereas 60% of adherent South American Amerindian strains bind blood group O antigens best (specialists). This specialization coincides with the unique predominance of blood group O in these Amerindians. Strains differed about 1500-fold in binding affinities, and diversifying selection was evident in babA sequences. We propose that cycles of selection for increased and decreased bacterial adherence contribute to babA diversity and that these cycles have led to gradual replacement of generalist binding by specialist binding in blood group O-dominant human populations.
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4. |
- Axelson, Jan, et al.
(author)
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Runic bibliography for 1999
- 2001
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In: Nytt om runer: Meldingsblad om runeforskning. - 0801-3756. ; 15(2000), s. 41-55
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Journal article (pop. science, debate, etc.)
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5. |
- Axelson, Jan, et al.
(author)
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Runic bibliography for 2000
- 2003
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In: Nytt om runer: Meldingsblad om runeforskning. - 0801-3756. ; 16(2001), s. 42-54
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Journal article (pop. science, debate, etc.)
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6. |
- Axelson, Jan, et al.
(author)
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Runic bibliography for 2001
- 2004
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In: Nytt om runer: Meldingsblad om runeforskning. - 0801-3756. ; 17(2002), s. 47-66
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Journal article (pop. science, debate, etc.)
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11. |
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12. |
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13. |
- Djoussé, Luc, et al.
(author)
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Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
- 2004
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In: Neurogenetics. - : Springer Science and Business Media LLC. - 1364-6745 .- 1364-6753. ; 5:2, s. 109-14
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Journal article (peer-reviewed)abstract
- Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. A recent genome scan for genetic modifiers of age at onset of motor symptoms (AO) in HD suggests that one modifier may reside in the region close to the HD gene itself. We used data from 535 HD participants of the New England Huntington cohort and the HD MAPS cohort to assess whether AO was influenced by any of the three markers in the 4p16 region: MSX1 (Drosophila homeo box homologue 1, formerly known as homeo box 7, HOX7), Delta2642 (within the HD coding sequence), and BJ56 ( D4S127). Suggestive evidence for an association was seen between MSX1 alleles and AO, after adjustment for normal CAG repeat, expanded repeat, and their product term (model P value 0.079). Of the variance of AO that was not accounted for by HD and normal CAG repeats, 0.8% could be attributed to the MSX1 genotype. Individuals with MSX1 genotype 3/3 tended to have younger AO. No association was found between Delta2642 (P=0.44) and BJ56 (P=0.73) and AO. This study supports previous studies suggesting that there may be a significant genetic modifier for AO in HD in the 4p16 region. Furthermore, the modifier may be present on both HD and normal chromosomes bearing the 3 allele of the MSX1 marker.
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14. |
- Esteller, Manel, et al.
(author)
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DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis
- 2001
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 10:26, s. 3001-3007
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Journal article (peer-reviewed)abstract
- Cancer cells have aberrant patterns of DNA methylation including hypermethylation of gene promoter CpG islands and global demethylation of the genome. Genes that cause familial cancer, as well as other genes, can be silenced by promoter hypermethylation in sporadic tumors, but the methylation of these genes in tumors from kindreds with inherited cancer syndromes has not been well characterized. Here, we examine CpG island methylation of 10 genes (hMLH1, BRCA1, APC, LKB1, CDH1, p16(INK4a), p14(ARF), MGMT, GSTP1 and RARbeta2) and 5-methylcytosine DNA content, in inherited (n = 342) and non-inherited (n = 215) breast and colorectal cancers. Our results show that singly retained alleles of germline mutated genes are never hypermethylated in inherited tumors. However, this epigenetic change is a frequent second "hit", associated with the wild-type copy of these genes in inherited tumors where both alleles are retained. Global hypomethylation was similar between sporadic and hereditary cases, but distinct differences existed in patterns of methylation at non-familial genes. This study demonstrates that hereditary cancers "mimic" the DNA methylation patterns present in the sporadic tumors.
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15. |
- Gromov, Sergey P, et al.
(author)
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Novel Photoswitchable Receptors: Synthesis and Cation-Induced Self-Assembly into Dimeric Complexes Leading to Stereospecific [2+2]-Photocycloaddition of Styryl Dyes Containing a 15-Crown-5 Ether Unit
- 2003
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In: The Journal of Organic Chemistry. - : American Chemical Society (ACS). - 0022-3263 .- 1520-6904. ; 68:16, s. 6115-25
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Journal article (peer-reviewed)abstract
- Styryl dyes 4a-e containing a 15-crown-5 ether unit and a quinoline residue with a sulfonatoalkyl or sulfonatobenzyl N-substituent were synthesized. The relationship between the photochemical behavior of these dyes and their aggregates derived from complexation with Mg2+ in MeCN was studied using 1H NMR and absorption spectroscopy. The E-isomers of 4a-e were shown to form highly stable dimeric (2:2) complexes with Mg2+. Upon irradiation with visible light, the dimeric complexes undergo two competing photoreactions, viz., geometric E Z isomerization, resulting in an anion-capped 1:1 complex of the Z-isomer with Mg2+ and stereospecific syn-head-to-tail [2+2]-cycloaddition, affording a single isomer of bis-crown-containing cyclobutane. The N-substituent in the dye has a dramatic effect on the photochemical behavior of the dimeric complex. Molecular dynamics and semiempirical quantum-chemical calculations were carried out to interpret the observed photocycloaddition in the dimer. Conformational equilibria for the dimer of (E)-4b were analyzed using 1H NMR spectroscopy.
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16. |
- Haggstrom, L, et al.
(author)
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Hyperfine interaction study of (Fe1-xCox)(3)P compounds
- 2000
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In: PHYSICAL REVIEW B. - : AMERICAN PHYSICAL SOC. - 1098-0121. ; 61:10, s. 6798-6804
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Journal article (peer-reviewed)abstract
- The magnetic and ordering properties of (Fe1-xCox)(3)P (x=0, 0.1, 0.2, and 0.33) compounds have been studied by Fe-57 Mossbauer technique. These investigations show that Co preferentially substitutes Fe in two out of three metal sites. Variations of the m
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18. |
- James, Stefan K., et al.
(author)
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A rapid troponin I assay is not optimal for determination of troponin status and prediction of subsequent cardiac events at suspicion of unstable coronary syndromes.
- 2004
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In: International Journal of Cardiology. - 0167-5273 .- 1874-1754. ; 93:2-3, s. 113-120
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Journal article (peer-reviewed)abstract
- BACKGROUND: Troponin is a specific marker of myocardial damage. For early prediction of coronary events in patients with suspicion of acute coronary syndromes the assay also needs to be highly sensitive. METHODS AND RESULTS: A rapid troponin I assay was performed prior to inclusion in 4447 acute coronary syndrome patients in the GUSTO-IV trial. A quantitative troponin T analysis was later performed on blood samples obtained at randomization by a central laboratory. There was an agreement between the rapid troponin I assay and troponin T (< or =/>0.1 microg/l) in 3596 (80.9%) patients. A positive rapid troponin I was identifying any elevation of troponin T (>0.01 microg/l) in 1990 patients (90.4%) whereas a negative rapid troponin I was corresponding to negative troponin T (< or =0.01 microg/l) in only 1217 patients (54.2%). Patients with a positive versus negative rapid troponin I had an increased risk of death or myocardial infarction at 30 days (9.3 vs. 5.9%; odds ratio, O.R. 1.64; 95% confidence interval, 1.31-2.06). Troponin T elevation (>0.1 microg/l) provided a better (10.5 v. 4.9%, O.R. 2.26; C.I. 1.79-2.85) risk stratification. Regardless of a positive or a negative rapid troponin I, the troponin T result (>0.1 vs. < or =0.1 microg/l) stratified the patients into high and low risk of events at 30 days, (10.3 vs. 5.7%, P=0.002) and (11.5 vs. 4.8%, P<0.001), respectively. CONCLUSION: In a population with non-ST elevation acute coronary syndrome a positive rapid troponin I assay is a specific indicator of troponin elevation and a predictor of early outcome. However, a negative rapid troponin I is not a reliable indicator of the absence of myocardial damage and does not indicate a low risk of subsequent cardiac events. A rapid troponin I assay was performed prior to inclusion in 4447 acute coronary syndrome patients in the GUSTO-IV trial and related to a centrally analyzed quantitative troponin T test. A positive rapid troponin I was well corresponding to any elevation of troponin T (>0.01 microg/l) and predicted an unfavorable outcome at 30 days. However, a negative rapid troponin I was corresponding to troponin T < or =0.01 microg/l in only half of the patients. Troponin T >0.1 microg/l vs. < or =0.1 microg/l provided a better risk stratification than the rapid troponin I result. For patients with troponin T elevation (>0.1 microg/l) the 30 day event rate was high regardless of the rapid troponin I result.
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19. |
- James, Stefan K., et al.
(author)
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Activation of the inflammation, coagulation, and fibrinolysis systems, without influence of abciximab infusion in patients with non-ST–elevation acute coronary syndromes treated with dalteparin : a GUSTO IV substudy
- 2004
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In: American Heart Journal. - : Elsevier BV. - 0002-8703 .- 1097-6744. ; 147:2, s. 267-274
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Journal article (peer-reviewed)abstract
- BackgroundIn acute coronary syndromes, the inflammation and the coagulation systems are activated, implying an impaired outcome. In addition to platelet inhibition, recent evidence suggests that the glycoprotein IIb/IIIa receptor inhibitor abciximab attenuates inflammation and coagulation activity.MethodsThe Swedish Global Utilization of Strategies To open Occluded arteries-IV (GUSTO-IV) substudy included 404 patients with non-ST–elevation acute coronary syndromes. In addition to aspirin and dalteparin, all patients were randomized to receive abciximab infusion for 24 hours or 48 hours or corresponding placebo without early coronary revascularization. Plasma samples were obtained at baseline and 24, 48, and 72 hours.ResultsThe median levels of the coagulation markers thrombin/antithrombin complex and soluble fibrin increased significantly from 3.1 to 3.7 ug/L (baseline to peak; P <.001) and from 20 to 23 nmol/L (P <.001), respectively. The fibrinolysis marker, tissue plasminogen-activator, also increased its median levels, from 11.7 to 17.5 ug/L (P <.001), whereas the median level of plasminogen-activator-inhibitor was unchanged. The inflammatory markers interleukin-6, C-reactive protein, and fibrinogen also increased their median levels (5.4–7.8 ng/L, P <.001; 4.4–8.7 mg/L, P <.001; 3.3–3.9 g/L, P <.001). However, there were no differences in median levels or in changes of median levels of any marker at any point between the placebo group and any of the abciximab groups.ConclusionsIn non-ST–elevation acute coronary syndrome, there was a simultaneous activation of the inflammation, coagulation, and fibrinolysis systems, despite aspirin and dalteparin treatment. Prolonged treatment with abciximab had no influence of the activation of these systems.Unstable coronary artery disease (CAD) intricately involves inflammatory mediators in the development of an atherosclerotic plaque and in thrombus formation by platelet aggregation.1 Acute phase elevation of inflammatory markers such as C-reactive protein (CRP), interleukin-6 (IL-6), and fibrinogen are important predictors of the short- and long-term prognosis in unstable CAD.2, 3 and 4 Activation of the coagulation and fibrinolysis systems, as demonstrated with elevated markers of thrombin generation, thrombin activity, and fibrin turnover, also have been found in the acute phase of unstable CAD and are associated with an adverse outcome.5, 6 and 7 Glycoprotein IIb/IIIa (GP IIb/IIIa) inhibitors potently inhibit platelet aggregation and reduce the incidence of ischemic events in patients undergoing percutaneuos coronary interventions8, 9 and 10 and in patients with unstable CAD.11 The GP IIb/IIIa inhibitor abciximab, in addition to its antithrombotic effect, also suppresses the rise in levels of inflammatory markers after percutaneous coronary interventions.12 This anti-inflammatory effect might be related to abciximab's cross-reaction with other integrin receptors.13 Furthermore, by inhibiting platelet aggregation, abciximab might also attenuate the coagulation and fibrinolysis activation as shown in vitro and in vivo.14 and 15The Global Utilization of Strategies To Open occluded arteries in acute coronary syndromes (GUSTO IV-ACS) trial unexpectedly failed to show any benefit of abciximab treatment in a high risk ACS population not undergoing early coronary revascularization.16 In the GUSTO IV-ACS low-molecular weight heparin substudy,17 dalteparin was used as the anticoagulant. Dalteparin, which is an inhibitor of the coagulation cascade, mainly by inhibition of factor Xa and less of factor IIa, has previously been shown to reduce the generation and activity of thrombin in unstable coronary disease.18 There is evidence that a combination of abciximab and a low-molecular-weight heparin have additive effects on the lag-time to platelet aggregation,19 and there are several theoretical advantages with the combination treatment. There was still no significant reduction in clinical events with abciximab in combination with dalteparin.17 The aim of this Swedish substudy of GUSTO IV-ACS was to evaluate the influence of abciximab infusion on markers on inflammation, coagulation, and fibrinolysis in patients with unstable CAD treated with aspirin and subcutaneous dalteparin.
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21. |
- Li, Jian-Liang, et al.
(author)
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A genome scan for modifiers of age at onset in Huntington disease : The HD MAPS study.
- 2003
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 73:3, s. 682-7
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Journal article (peer-reviewed)abstract
- Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD.
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23. |
- Olesen, Christian, et al.
(author)
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Identification of human candidate genes for male infertility by digital differential display
- 2001
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In: Molecular Human Reproduction. - : Oxford University Press (OUP). - 1460-2407. ; 7:1, s. 41598-41598
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Journal article (peer-reviewed)abstract
- Evidence for the importance of genetic factors in male fertility is accumulating. In the literature and the Mendelian Cytogenetics Network database, 265 cases of infertile males with balanced reciprocal translocations have been described. The candidacy for infertility of 14 testis-expressed transcripts (TETs) were examined by comparing their chromosomal mapping position to the position of balanced reciprocal translocation breakpoints found in the 265 infertile males, The 14 TETs were selected by using digital differential display (electronic subtraction) to search for apparently testis-specific transcripts in the TIGR database. The testis specificity of the 14 TETs was further examined by reverse transcription-polymerase chain reaction (RT-PCR) on adult and fetal tissues showing that four TETs (TET1 to TET4) were testis-expressed only, six TETs (TET5 to TET10) appeared to be differentially expressed and the remaining four TETs (TET11 to TET14) were ubiquitously expressed. Interestingly, the two tesis expressed-only transcripts, TET1 and TET2,mapped to chromosomal regions where seven and six translocation breakpoints have been reported in infertile males respectively. Furthermore, one ubiquitously, but predominantly testis-expressed, transcript, TET11, mapped to 1p32-33, where 13 translocation breakpoints have been found in infertile males, Interestingly, the mouse mutation, skeletal fusions with sterility, sks, maps to the syntenic region in the mouse genome. Another transcript, TET7, was the human homologue of rat Tpx-1, which functions in the specific interaction of spermatogenic cells with Sertoli cells. TPX-1 maps to 6p21 where three cases of chromosomal breakpoints in infertile males have been reported. Finally, TET8 was a novel transcript which in the fetal stage is testis-specific, but in the adult is expressed in multiple tissues, including testis, We named this novel transcript fetal and adult testis-expressed transcript (FATE).
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24. |
- Schulz, Ralf, et al.
(author)
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Fate and Effects of Azinphos-Methyl in a Flow-Through Wetland in South Africa
- 2003
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In: Environmental Science and Technology. - Washington : American Chemical Society. - 0013-936X .- 1520-5851. ; 37:10, s. 2139-2144
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Journal article (peer-reviewed)abstract
- Our knowledge about the effectiveness of constructed wetlands in retaining agricultural nonpoint-source pesticide pollution is limited. A 0.44-ha vegetated wetland built along a tributary of the Lourens River, Western Cape, South Africa, was studied to ascertain the retention, fate, and effects of spray drift-borne azinphos-methyl (AZP). Composite water samples taken at the inlet and outlet during five spray drift trials in summer 2000 and 2001 revealed an overall reduction of AZP levels by 90 ± 1% and a retention of AZP mass by 61 ± 5%. Samples were collected at the inlet, outlet, and four platforms within the wetland to determine the fate and effect of AZP in the wetland after direct spray drift deposition in the tributary 200 m upstream of the inlet. Peak concentrations of AZP decreased, and the duration of exposure increased from inlet (0.73 µg/L; 9 h) via platforms 1 and 4 to outlet (0.08 µg/L; 16 h). AZP sorbed to plants or plant surfaces, leading to a peak concentration of 6.8 µg/kg dw. The living plant biomass accounted for 10.5% of the AZP mass initially retained in the wetland, indicating processes such as volatilization, photolysis, hydrolysis, or metabolic degradation as being very important. AZP was not detected in sediments. Water samples taken along two 10-m transects situated perpendicular to the shore indicated a homogeneous horizontal distribution of the pesticide: 0.23±0.02 and 0.14±0.04 µg/L (n = 5), respectively. Both Copepoda (p = 0.019) and Cladocera (p = 0.027) decreased significantly 6 h postdeposition and remained at reduced densities for at least 7 d. In parallel, the chlorophyll a concentration showed an increase, although not significant, within 6 h of spray deposition. The study highlights the potential of constructed wetlands as a risk-mitigation strategy for spray drift-related pesticide pollution.
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