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| 2. |
- Charlesworth, A., et al.
(author)
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Epidermolysis bullosa simplex with PLEC mutations : new phenotypes and new mutations
- 2013
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In: British Journal of Dermatology. - : Oxford University Press (OUP). - 0007-0963 .- 1365-2133. ; 168:4, s. 808-814
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Journal article (peer-reviewed)abstract
- Background Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype-genotype analysis has suggested that EBS-MD is due mostly to genetic mutations affecting the central rod domain of plectin, and EBS-PA to mutations outside this domain. Objectives This study aimed to describe new phenotypes of patients with EBS-MD and EBS-PA, to identify novel PLEC mutations and to establish genotype-phenotype correlations. Methods Seven patients with a suspicion of EBS linked to PLEC mutations were included. A standardized clinical questionnaire was sent to the physicians in charge of each patient. Immunofluorescence studies of skin biopsies followed by molecular analysis of PLEC were performed in all patients. Results We report the first case of nonlethal EBS-PA improving with age, the first multisystemic involvement in a patient with lethal EBS-PA, and the first patients with EBS-MD with involvement of either the bladder or oesophagus. Eleven novel PLEC mutations are also reported. Conclusions Our results confirm that EBS-PA is linked to mutations in the distal exons 1-30 and 32 of PLEC. Long-term survival is possible, with skin improvement, but a delayed onset of MD is probable. While EBS-MD is linked to PLEC mutations in all exons, in most cases one of the mutations affects exon 31. The precocity of MD seems to be linked to the type and localization of the PLEC mutation(s), but no correlation with mucosal involvement has been found.
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| 3. |
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| 4. |
- Lu, S. S., et al.
(author)
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Are urinary PAHs biomarkers of controlled exposure to diesel exhaust?
- 2014
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In: Biomarkers. - : Informa UK Limited. - 1354-750X .- 1366-5804. ; 19:4, s. 332-339
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Journal article (peer-reviewed)abstract
- Urinary polycyclic aromatic hydrocarbons (PAHs) were evaluated as possible biomarkers of exposure to diesel exhaust (DE) in two controlled-chamber studies. We report levels of 14 PAHs from 28 subjects in urine that were collected before, immediately after and the morning after exposure. Using linear mixed-effects models, we tested for effects of DE exposure and several covariates (time, age, gender and urinary creatinine) on urinary PAH levels. DE exposures did not significantly alter urinary PAH levels. We conclude that urinary PAHs are not promising biomarkers of short-term exposures to DE in the range of 106-276 mu g/m(3).
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| 5. |
- Morawska, L., et al.
(author)
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Airborne particles in indoor environment of homes, schools, offices and aged care facilities : The main routes of exposure
- 2017
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In: Environment International. - : Elsevier BV. - 0160-4120. ; 108, s. 75-83
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Research review (peer-reviewed)abstract
- It has been shown that the exposure to airborne particulate matter is one of the most significant environmental risks people face. Since indoor environment is where people spend the majority of time, in order to protect against this risk, the origin of the particles needs to be understood: do they come from indoor, outdoor sources or both? Further, this question needs to be answered separately for each of the PM mass/number size fractions, as they originate from different sources. Numerous studies have been conducted for specific indoor environments or under specific setting. Here our aim was to go beyond the specifics of individual studies, and to explore, based on pooled data from the literature, whether there are generalizable trends in routes of exposure at homes, schools and day cares, offices and aged care facilities. To do this, we quantified the overall 24 h and occupancy weighted means of PM10, PM2.5 and PN - particle number concentration. Based on this, we developed a summary of the indoor versus outdoor origin of indoor particles and compared the means to the WHO guidelines (for PM10 and PM2.5) and to the typical levels reported for urban environments (PN). We showed that the main origins of particle metrics differ from one type of indoor environment to another. For homes, outdoor air is the main origin of PM10 and PM2.5 but PN originate from indoor sources; for schools and day cares, outdoor air is the source of PN while PM10 and PM2.5 have indoor sources; and for offices, outdoor air is the source of all three particle size fractions. While each individual building is different, leading to differences in exposure and ideally necessitating its own assessment (which is very rarely done), our findings point to the existence of generalizable trends for the main types of indoor environments where people spend time, and therefore to the type of prevention measures which need to be considered in general for these environments.
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| 6. |
- Pacitto, A., et al.
(author)
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The influence of lifestyle on airborne particle surface area doses received by different Western populations
- 2018
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In: Environmental Pollution. - : Elsevier BV. - 0269-7491. ; 232, s. 113-122
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Journal article (peer-reviewed)abstract
- In the present study, the daily dose in terms of particle surface area received by citizens living in five cities in Western countries, characterized by different lifestyle, culture, climate and built-up environment, was evaluated and compared. For this purpose, the exposure to sub-micron particle concentration levels of the population living in Barcelona (Spain), Cassino (Italy), Guilford (United Kingdom), Lund (Sweden), and Brisbane (Australia) was measured through a direct exposure assessment approach. In particular, measurements of the exposure at a personal scale were performed by volunteers (15 per each population) that used a personal particle counter for different days in order to obtain exposure data in microenvironments/activities they resided/performed. Non-smoking volunteers performing non-industrial jobs were considered in the study.Particle concentration data allowed obtaining the exposure of the population living in each city. Such data were combined in a Monte Carlo method with the time activity pattern data characteristics of each population and inhalation rate to obtain the most probable daily dose in term of particle surface area as a function of the population gender, age, and nationality.The highest daily dose was estimated for citizens living in Cassino and Guilford (>1000 mm2), whereas the lowest value was recognized for Lund citizens (around 100 mm2). Indoor air quality, and in particular cooking and eating activities, was recognized as the main influencing factor in terms of exposure (and thus dose) of the population: then confirming that lifestyle (e.g. time spent in cooking activities) strongly affect the daily dose of the population. On the contrary, a minor or negligible contribution of the outdoor microenvironments was documented.
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| 10. |
- Dierschke, Katrin, et al.
(author)
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Acute respiratory effects and biomarkers of inflammation due to welding-derived nanoparticle aggregates
- 2017
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In: International Archives of Occupational and Environmental Health. - : Springer Science and Business Media LLC. - 0340-0131 .- 1432-1246. ; 90:5, s. 451-463
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Journal article (peer-reviewed)abstract
- Welders are exposed to airborne particles from the welding environment and often develop symptoms work-related from the airways. A large fraction of the particles from welding are in the nano-size range. In this study we investigate if the welders' airways are affected by exposure to particles derived from gas metal arc welding in mild steel in levels corresponding to a normal welding day. In an exposure chamber, 11 welders with and 10 welders without work-related symptoms from the lower airways and 11 non-welders without symptoms, were exposed to welding fumes (1 mg/m(3)) and to filtered air, respectively, in a double-blind manner. Symptoms from eyes and upper and lower airways and lung function were registered. Blood and nasal lavage (NL) were sampled before, immediately after and the morning after exposure for analysis of markers of oxidative stress. Exhaled breath condensate (EBC) for analysis of leukotriene B4 (LT-B4) was sampled before, during and immediately after exposure. No adverse effects of welding exposure were found regarding symptoms and lung function. However, EBC LT-B4 decreased significantly in all participants after welding exposure compared to filtered air. NL IL-6 increased immediately after exposure in the two non-symptomatic groups and blood neutrophils tended to increase in the symptomatic welder group. The morning after, neutrophils and serum IL-8 had decreased in all three groups after welding exposure. Remarkably, the symptomatic welder group had a tenfold higher level of EBC LT-B4 compared to the two groups without symptoms. Despite no clinical adverse effects at welding, changes in inflammatory markers may indicate subclinical effects even at exposure below the present Swedish threshold limit (8 h TWA respirable dust).
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| 11. |
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| 14. |
- Hagerman, Inger, et al.
(author)
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Effects on heart rate variability by artificially generated indoor nano-sized particles in a chamber study
- 2014
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In: Atmospheric Environment. - : Elsevier BV. - 1352-2310. ; 88, s. 165-171
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Journal article (peer-reviewed)abstract
- Background: Airborne particles are associated with increased morbidity and mortality due to respiratory and cardiovascular diseases in polluted areas. There is a growing interest in nano-sized particles with diameter < 100 nm and their potential health effects. Heart rate variability (HRV) is a noninvasive method for cardiovascular risk prediction in high prevalent groups. Aim of study: The aim was to evaluate the impact of nano-sized indoor air particles on HRV for healthy and adult females. Methods: All exposures were performed as controlled chamber experiments with particle exposure from burning candles, terpene + ozone reactions or filtered air in a double-blind cross over design. Twenty-two healthy females were investigated during 10 min periods at different exposures and the reactivity in high frequency (HF) spectral band of HRV were computed. Results: Heart rate was unchanged from baseline values in all groups during all experimental settings. HF power of HRV tended to increase during exposure to particles from burning candle while particles from terpene + ozone reactions tended to decrease HF power. Conclusions: Exposure to nano-sized particles of burning candles or terpene + ozone reactions results in different patterns of heart rate variability, with signs of altered autonomic cardiovascular control. Practical implications: This study indicates that the HRV method may be used for information on physiological responses of exposure to different nano-sized particles and contribute to the understanding of mechanisms behind health effects of particle exposures. (C) 2014 The Authors. Published by Elsevier Ltd.
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| 15. |
- Hemmingsen, Jette Gjerke, et al.
(author)
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Controlled exposure to diesel exhaust and traffic noise - Effects on oxidative stress and activation in mononuclear blood cells.
- 2015
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In: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. - : Elsevier BV. - 1879-2871 .- 0027-5107. ; 775, s. 66-71
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Journal article (peer-reviewed)abstract
- Particulate air pollution increases risk of cancer and cardiopulmonary disease, partly through oxidative stress. Traffic-related noise increases risk of cardiovascular disease and may cause oxidative stress. In this controlled random sequence study, 18 healthy subjects were exposed for 3h to diesel exhaust (DE) at 276μg/m(3) from a passenger car or filtered air, with co-exposure to traffic noise at 48 or 75dB(A). Gene expression markers of inflammation, (interleukin-8 and tumor necrosis factor), oxidative stress (heme oxygenase (decycling-1)) and DNA repair (8-oxoguanine DNA glycosylase (OGG1)) were unaltered in peripheral blood mononuclear cells (PBMCs). No significant differences in DNA damage levels, measured by the comet assay, were observed after DE exposure, whereas exposure to high noise levels was associated with significantly increased levels of hOGG1-sensitive sites in PBMCs. Urinary levels of 8-oxo-7,8-dihydro-2'-deoxyguanosine were unaltered. In auxiliary ex vivo experiments whole blood was incubated with particles from the exposure chamber for 3h without effects on DNA damage in PBMCs or intracellular reactive oxygen species production and expression of CD11b and CD62L adhesion molecules in leukocyte subtypes.
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| 16. |
- Isaxon, Christina, et al.
(author)
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A Novel System for Source Characterization and Controlled Human Exposure to Nanoparticle Aggregates Generated During Gas–Metal Arc Welding
- 2013
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In: Aerosol Science and Technology. - : Informa UK Limited. - 1521-7388 .- 0278-6826. ; 47:1, s. 52-59
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Journal article (peer-reviewed)abstract
- Abstract in Undetermined The aim of this study was to achieve a method to perform detailed characterization and human exposure studies of nanosized and nanostructured aerosol particles. The source chosen was mild steel, active gas, arc welding fume. The setup consisted of a generation chamber, where welding can be performed, connected to an airtight stainless steel 22 m(3) exposure chamber. Instrumentation, consisting of a tapered element oscillating microbalance, a scanning mobility particle sizer, and a sampler for electron microscopy and particle-induced X-ray emission analysis was connected to the stainless steel chamber. The feasibility of the system for human exposure studies was evaluated by exposing 31 human volunteers, in groups of three, to a test aerosol containing 1 mg/m(3) welding fumes and to conditioned, filtered air. The results show that an aerosol that accurately represents dilute welding fume exposures that occur in workplaces can be produced in a controlled manner, and that the experimental setup can be used for 6 h, double-blind, exposures of human subjects. Particle mass concentration levels could be varied from <5 mu g/m(3) to more than 1000 mu g/m(3). Fumes from metal active gas welding showed a unimodal size distribution with a mean mobility diameter of 160 nm, transmission electron microscopy showed aggregates with a clearly nanosized structure.
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| 17. |
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| 18. |
- Isaxon, Christina, et al.
(author)
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Realistic indoor nano-aerosols for a human exposure facility
- 2013
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In: Journal of Aerosol Science. - : Elsevier BV. - 0021-8502. ; 60, s. 55-66
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Journal article (peer-reviewed)abstract
- The aim of this study was to achieve realistic levels of two different types of aerosols commonly abundant in indoor environments in an experimental chamber intended for human exposure studies and aerosol characterization. The aerosols chosen were particles from candle lights (in particle number dominated by inorganic water soluble particles) and from ozone-terpene reactions (organic particles). The aerosol generation and characterization system consisted of a controlled air tight stainless steel 22 m(3) chamber, to which the generation set-ups were connected. No air could enter or leave the chamber except through a conditioning system by which temperature, relative humidity and air exchange rate could be controlled. Candle smoke aerosol was generated from ten candles burning in a 1.33 m(3) glass and stainless steel chamber. The aerosol was diluted by clean air from the conditioning system before entering the chamber. Terpene vapor was generated by passing pure nitrogen through a glass bottle containing limonene oil. Ozone was generated by a spark discharge using pure O-2, and was added to the ventilation air flow downstream the inlet for terpene vapors and upstream the inlet to the chamber. Both aerosols were characterized with respect to number and mass concentrations, size distribution and chemical composition. Particle number concentration in the size range 10-650 nm could be varied from <10 cm(-3) to more than 900,000 cm(-3) (for candle smoke) or to more than 30,000 cm(-3) (for particles formed in a 160 ppb terpene/40 ppb ozone mixture). Furthermore, the set-ups were evaluated by, for each source, repeating the generation at six three-hour long events. For both aerosols repeatable generations at pre-determined concentration levels, that were stable over time, could be achieved. The results show that realistic concentrations of aerosols from real-world environments could be reproduced in a well-controlled manner and that this set-up could be used both for aerosol characterization and for human exposures. (C) 2013 Elsevier Ltd. All rights reserved.
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| 21. |
- Koivisto, Antti Joonas, et al.
(author)
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Source specific exposure and risk assessment for indoor aerosols
- 2019
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In: Science of the Total Environment. - : Elsevier BV. - 0048-9697. ; 668, s. 13-24
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Journal article (peer-reviewed)abstract
- Poor air quality is a leading contributor to the global disease burden and total number of deaths worldwide. Humans spend most of their time in built environments where the majority of the inhalation exposure occurs. Indoor Air Quality (IAQ) is challenged by outdoor air pollution entering indoors through ventilation and infiltration and by indoor emission sources. The aim of this study was to understand the current knowledge level and gaps regarding effective approaches to improve IAQ. Emission regulations currently focus on outdoor emissions, whereas quantitative understanding of emissions from indoor sources is generally lacking. Therefore, specific indoor sources need to be identified, characterized, and quantified according to their environmental and human health impact. The emission sources should be stored in terms of relevant metrics and statistics in an easily accessible format that is applicable for source specific exposure assessment by using mathematical mass balance modelings. This forms a foundation for comprehensive risk assessment and efficient interventions. For such a general exposure assessment model we need 1) systematic methods for indoor aerosol emission source assessment, 2) source emission documentation in terms of relevant a) aerosol metrics and b) biological metrics, 3) default model parameterization for predictive exposure modeling, 4) other needs related to aerosol characterization techniques and modeling methods. Such a general exposure assessment model can be applicable for private, public, and occupational indoor exposure assessment, making it a valuable tool for public health professionals, product safety designers, industrial hygienists, building scientists, and environmental consultants working in the field of IAQ and health.
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| 22. |
- Landberg, Rikard, 1981, et al.
(author)
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New alkylresorcinol metabolites in spot urine as biomarkers of whole grain wheat and rye intake in a Swedish middle-aged population
- 2018
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In: European Journal of Clinical Nutrition. - : Springer Science and Business Media LLC. - 0954-3007 .- 1476-5640. ; 72:10, s. 1439-1446
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Journal article (peer-reviewed)abstract
- Background/objectives: Studies on the health effects of whole grains typically use self-reported intakes which are prone to large measurement errors. Dietary biomarkers that can provide an objective measure of intake are needed. New alkylresorcinol (AR) metabolites (3,5-dihydroxycinnamic acid (DHCA), 2-(3,5-dihydroxybenzamido)acetic acid (DHBA-glycine) and 5-(3,5-dihydroxyphenyl) pentanoic acid (DHPPTA)) in 24 h urine samples have been suggested as biomarkers for whole grain (WG) wheat and rye intake but remain to be evaluated in spot urine samples. Subjects/methods: The reproducibility of the new AR metabolites (DHCA, DHBA-glycine and DHPPTA) was investigated in 4 repeated samples over a period of 2 wk in spot urine from 40 Swedish men and women enroled in the SCAPIS-study, after adjustment of creatinine. Metabolite concentrations were correlated with total whole grain intake estimated during the same period. Results: The medium-term reproducibility determined for DHCA, DHPPTA and DHBA-glycine varied from moderate to excellent (intra-class correlation coefficient = 0.35–0.67). Moreover, DHCA and DHBA-glycine were independently associated with self-reported total WG intake (β = 0.18, P = 0.08 and β = 0.18, P = 0.02, respectively) and all metabolites except for DHPPA were higher among women. Conclusions: This study supports the idea of using AR metabolites in one or several spot urine samples as biomarkers of whole grain intake. These findings need to be confirmed in different populations.
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| 23. |
- Markowicz, Pawel, et al.
(author)
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A study on particles and some microbial markers in waterpipe tobacco smoke.
- 2014
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In: Science of the Total Environment. - : Elsevier BV. - 1879-1026 .- 0048-9697. ; 499, s. 107-113
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Journal article (peer-reviewed)abstract
- Waterpipe smoking is becoming increasingly popular worldwide. Research has shown that cigarette smoke, in addition to hundreds of carcinogenic and otherwise toxic compounds, may also contain compounds of microbiological origin. In the present study we analyzed waterpipe smoke for some microbial compounds. Both of the two markers studied, viz 3-hydroxy fatty acids of bacterial lipopolysaccharide (LPS) and ergosterol of fungal biomass, were found in waterpipe tobacco, in amounts similar as previously found in cigarette tobacco, and in smoke. Waterpipe mainstream smoke contained on average 1800 pmol LPS and 84.4ng ergosterol produced per session. An average concentration of 2.8 pmol/m(3) of LPS was found in second hand smoke during a 1-2-h waterpipe smoking session while ergosterol was not detected; corresponding concentrations from smoking five cigarettes were 22.2 pmol/m(3) of LPS and 87.5ng/m(3) of ergosterol. This is the first time that waterpipe smoking has been shown to create a bioaerosol. In the present study we also found that waterpipe smoking generated several polycyclic aromatic hydrocarbons, carbon monoxide, and high fraction of small (<200nm) particles that may have adverse effects on human health upon inhalation.
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| 24. |
- Mavliutova, Liliia, et al.
(author)
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Discrimination between sialic acid linkage modes using sialyllactose-imprinted polymers
- 2021
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In: RSC Advances. - : Royal Society of Chemistry. - 2046-2069. ; 11:36, s. 22409-22418
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Journal article (peer-reviewed)abstract
- Glycosylation plays an important role in various pathological processes such as cancer. One key alteration in the glycosylation pattern correlated with cancer progression is an increased level as well as changes in the type of sialylation. Developing molecularly-imprinted polymers (MIPs) with high affinity for sialic acid able to distinguish different glycoforms such as sialic acid linkages is an important task which can help in early cancer diagnosis. Sialyllactose with alpha 2,6 ' vs. alpha 2,3 ' sialic acid linkage served as a model trisaccharide template. Boronate chemistry was employed in combination with a library of imidazolium-based monomers targeting the carboxylate group of sialic acid. The influence of counterions of the cationic monomers and template on their interactions was investigated by means of H-1 NMR titration studies. The highest affinities were afforded using a combination of Br- and Na+ counterions of the monomers and template, respectively. The boronate ester formation was confirmed by MS and H-1/B-11 NMR, indicating 1 : 2 stoichiometries between sialyllactoses and boronic acid monomer. Polymers were synthesized in the form of microparticles using boronate and imidazolium monomers. This combinatorial approach afforded MIPs selective for the sialic acid linkages and compatible with an aqueous environment. The molecular recognition properties with respect to saccharide templates and glycosylated targets were reported.
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| 25. |
- Mohammadi, Elyas, et al.
(author)
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Size matters : the impact of nucleus size on results from spatial transcriptomics
- 2023
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In: Journal of Translational Medicine. - : Springer Nature. - 1479-5876. ; 21:1
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Journal article (peer-reviewed)abstract
- Background: Visium Spatial Gene Expression (ST) is a method combining histological spatial information with transcriptomics profiles directly from tissue sections. The use of spatial information has made it possible to discover new modes of gene expression regulations. However, in the ST experiment, the nucleus size of cells may exceed the thickness of a tissue slice. This may, in turn, negatively affect comprehensive capturing the transcriptomics profile in a single slice, especially for tissues having large differences in the size of nuclei.Methods: Here, we defined the effect of Consecutive Slices Data Integration (CSDI) on unveiling accurate spot clustering and deconvolution of spatial transcriptomic spots in human postmortem brains. By considering the histological information as reference, we assessed the improvement of unsupervised clustering and single nuclei RNA-seq and ST data integration before and after CSDI.Results: Apart from the escalated number of defined clusters representing neuronal layers, the pattern of clusters in consecutive sections was concordant only after CSDI. Besides, the assigned cell labels to spots matches the histological pattern of tissue sections after CSDI.Conclusion: CSDI can be applied to investigate consecutive sections studied with ST in the human cerebral cortex, avoiding misinterpretation of spot clustering and annotation, increasing accuracy of cell recognition as well as improvement in uncovering the layers of grey matter in the human brain.
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