| 1. |
- Aad, G., et al.
(författare)
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- 2012
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swepub:Mat__t (refereegranskat)
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| 2. |
- Acharya, B. S., et al.
(författare)
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Introducing the CTA concept
- 2013
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Ingår i: Astroparticle physics. - : Elsevier BV. - 0927-6505 .- 1873-2852. ; 43, s. 3-18
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The Cherenkov Telescope Array (CTA) is a new observatory for very high-energy (VHE) gamma rays. CTA has ambitions science goals, for which it is necessary to achieve full-sky coverage, to improve the sensitivity by about an order of magnitude, to span about four decades of energy, from a few tens of GeV to above 100 TeV with enhanced angular and energy resolutions over existing VHE gamma-ray observatories. An international collaboration has formed with more than 1000 members from 27 countries in Europe, Asia, Africa and North and South America. In 2010 the CTA Consortium completed a Design Study and started a three-year Preparatory Phase which leads to production readiness of CTA in 2014. In this paper we introduce the science goals and the concept of CTA, and provide an overview of the project. (C) 2013 Elsevier B.V. All rights reserved.
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| 3. |
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| 4. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 5. |
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| 6. |
- Jansen, Willemijn J, et al.
(författare)
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Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum.
- 2022
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Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 79:3, s. 228-243
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Tidskriftsartikel (refereegranskat)abstract
- One characteristic histopathological event in Alzheimer disease (AD) is cerebral amyloid aggregation, which can be detected by biomarkers in cerebrospinal fluid (CSF) and on positron emission tomography (PET) scans. Prevalence estimates of amyloid pathology are important for health care planning and clinical trial design.To estimate the prevalence of amyloid abnormality in persons with normal cognition, subjective cognitive decline, mild cognitive impairment, or clinical AD dementia and to examine the potential implications of cutoff methods, biomarker modality (CSF or PET), age, sex, APOE genotype, educational level, geographical region, and dementia severity for these estimates.This cross-sectional, individual-participant pooled study included participants from 85 Amyloid Biomarker Study cohorts. Data collection was performed from January 1, 2013, to December 31, 2020. Participants had normal cognition, subjective cognitive decline, mild cognitive impairment, or clinical AD dementia. Normal cognition and subjective cognitive decline were defined by normal scores on cognitive tests, with the presence of cognitive complaints defining subjective cognitive decline. Mild cognitive impairment and clinical AD dementia were diagnosed according to published criteria.Alzheimer disease biomarkers detected on PET or in CSF.Amyloid measurements were dichotomized as normal or abnormal using cohort-provided cutoffs for CSF or PET or by visual reading for PET. Adjusted data-driven cutoffs for abnormal amyloid were calculated using gaussian mixture modeling. Prevalence of amyloid abnormality was estimated according to age, sex, cognitive status, biomarker modality, APOE carrier status, educational level, geographical location, and dementia severity using generalized estimating equations.Among the 19097 participants (mean [SD] age, 69.1 [9.8] years; 10148 women [53.1%]) included, 10139 (53.1%) underwent an amyloid PET scan and 8958 (46.9%) had an amyloid CSF measurement. Using cohort-provided cutoffs, amyloid abnormality prevalences were similar to 2015 estimates for individuals without dementia and were similar across PET- and CSF-based estimates (24%; 95% CI, 21%-28%) in participants with normal cognition, 27% (95% CI, 21%-33%) in participants with subjective cognitive decline, and 51% (95% CI, 46%-56%) in participants with mild cognitive impairment, whereas for clinical AD dementia the estimates were higher for PET than CSF (87% vs 79%; mean difference, 8%; 95% CI, 0%-16%; P=.04). Gaussian mixture modeling-based cutoffs for amyloid measures on PET scans were similar to cohort-provided cutoffs and were not adjusted. Adjusted CSF cutoffs resulted in a 10% higher amyloid abnormality prevalence than PET-based estimates in persons with normal cognition (mean difference, 9%; 95% CI, 3%-15%; P=.004), subjective cognitive decline (9%; 95% CI, 3%-15%; P=.005), and mild cognitive impairment (10%; 95% CI, 3%-17%; P=.004), whereas the estimates were comparable in persons with clinical AD dementia (mean difference, 4%; 95% CI, -2% to 9%; P=.18).This study found that CSF-based estimates using adjusted data-driven cutoffs were up to 10% higher than PET-based estimates in people without dementia, whereas the results were similar among people with dementia. This finding suggests that preclinical and prodromal AD may be more prevalent than previously estimated, which has important implications for clinical trial recruitment strategies and health care planning policies.
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| 7. |
- Sikkema, Lisa, et al.
(författare)
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An integrated cell atlas of the lung in health and disease
- 2023
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Ingår i: Nature Medicine. - : Springer Nature. - 1078-8956 .- 1546-170X. ; 29:6, s. 1563-1577
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Tidskriftsartikel (refereegranskat)abstract
- Single-cell technologies have transformed our understanding of human tissues. Yet, studies typically capture only a limited number of donors and disagree on cell type definitions. Integrating many single-cell datasets can address these limitations of individual studies and capture the variability present in the population. Here we present the integrated Human Lung Cell Atlas (HLCA), combining 49 datasets of the human respiratory system into a single atlas spanning over 2.4 million cells from 486 individuals. The HLCA presents a consensus cell type re-annotation with matching marker genes, including annotations of rare and previously undescribed cell types. Leveraging the number and diversity of individuals in the HLCA, we identify gene modules that are associated with demographic covariates such as age, sex and body mass index, as well as gene modules changing expression along the proximal-to-distal axis of the bronchial tree. Mapping new data to the HLCA enables rapid data annotation and interpretation. Using the HLCA as a reference for the study of disease, we identify shared cell states across multiple lung diseases, including SPP1 + profibrotic monocyte-derived macrophages in COVID-19, pulmonary fibrosis and lung carcinoma. Overall, the HLCA serves as an example for the development and use of large-scale, cross-dataset organ atlases within the Human Cell Atlas.
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| 13. |
- Öfverholm, Anna, et al.
(författare)
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Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
- 2023
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Ingår i: BMC Cancer. - : BioMed Central (BMC). - 1471-2407. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundGenetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.MethodsWomen with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.ResultsIn 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.ConclusionsThis study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.
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| 17. |
- von Rosen, P, et al.
(författare)
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Menstrual irregularity and use of oral contraceptives in female adolescent athletes in Swedish National Sports High Schools
- 2017
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Ingår i: International journal of adolescent medicine and health. - : Walter de Gruyter GmbH. - 2191-0278. ; 32:2
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveFemale adolescent athletes seem to use oral contraceptives (OCs) in the same proportion as the general population. In athletes not using OCs, menstrual irregularity (MI) is reported to be common but there are few studies of MI in adolescent athletes. The aim of the study was to survey menarche, menstrual irregularity and use of OCs in adolescent athletes in the National Sports High Schools in Sweden. A further aim was to study the associations between current sport injury and menstrual irregularity as well as use of OCs.SubjectsTwo hundred and ninety-eight female adolescent athletes at Swedish National Sports High Schools.MethodsA web-based questionnaire containing questions related to menstrual status, contraception and current injury.ResultsOne third (32.6%) of the athletes used OCs and of the remaining athletes 31.8% had MI. The group of athletes with MI had a significantly (p = 0.038; Cohen’s d, 0.32) lower BMI and consisted of a significantly (p = 0.043) higher proportion of endurance athletes. OC users were less likely to participate in endurance sports compared to non-OC users (p = 0.024). Current injury was equally distributed in the OC and the non-OC group but athletes with MI had fewer sports injuries compared to eumenorrheic women.ConclusionOCs are frequently used among athletes at Swedish National Sports High Schools. OC users were less likely to participate in endurance sports compared to non-OC users. MI was common and athletes with MI had lower BMI compared to eumenorrheic athletes. Sports injuries were not associated with use of OC and eumenorrheic athletes had a higher proportion of current injury.
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| 20. |
- Fischer, J., et al.
(författare)
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Prevalence of temporomandibular disorder in children and adolescents with juvenile idiopathic arthritis : a Norwegian cross-sectional multicentre study
- 2020
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Ingår i: BMC Oral Health. - : BioMed Central. - 1472-6831. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Children and adolescents with juvenile idiopathic arthritis (JIA) may suffer pain from temporomandibular disorder (TMD). Still, routines for the assessment of temporomandibular joint (TMJ) pain in health and dental care are lacking. The aims of this study were to examine the prevalence of TMD in children and adolescents with JIA compared to their healthy peers and to investigate potential associations between JIA and TMD. Methods This comparative cross-sectional study is part of a longitudinal multicentre study performed during 2015-2020, including 228 children and adolescents aged 4-16 years with a diagnosis of JIA according to the ILAR criteria. This particular substudy draws on a subset of data from the first study visit, including assessments of TMD as part of a broader oral health examination. Children and adolescents with JIA were matched with healthy controls according to gender, age, and centre site. Five calibrated examiners performed the clinical oral examinations according to a standardised protocol, including shortened versions of the diagnostic criteria for TMD (DC/TMD) and the TMJaw Recommendations for Clinical TMJ Assessment in Patients Diagnosed with JIA. Symptoms were recorded and followed by a clinical examination assessing the masticatory muscles and TMJs. Results In our cohort of 221 participants with JIA and 221 healthy controls, 88 (39.8%) participants with JIA and 25 (11.3%) healthy controls presented with TMD based on symptoms and clinical signs. Painful TMD during the last 30 days was reported in 59 (26.7%) participants with JIA vs. 10 (5.0%) of the healthy controls (p < 0.001). Vertical unassisted jaw movement was lower in participants with JIA than in controls, with means of 46.2 mm vs. 49.0 mm, respectively (p < 0.001). Among participants with JIA, a higher proportion of those using synthetic disease-modifying antirheumatic-drugs and biologic disease-modifying antirheumatic-drugs presented with painful masticatory muscles and TMJs at palpation. Conclusion Symptoms and clinical signs of TMD were seen in approximately half of the JIA patients compared to about one fourth of their healthy peers. Painful palpation to masticatory muscles and decreased vertical unassisted jaw movement were more frequent in participants with JIA than among healthy controls and should be part of both medical and dental routine examinations in patients with JIA.
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| 21. |
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| 22. |
- Jederlund, Ulf
(författare)
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Trustful Relationships and School Development
- 2021
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Methods other than averages from national tests, grades and levels of eligibility for higher education to evaluate the quality of education and school development are called for. In this dissertation is examined how a conscious effort to develop trustful relationships and mutual interaction among all actors in schools may contribute to increased well-being, community and strengthened learning processes for both students and teachers. ‘Relational school development’ is seen as particularly important for the large group of students who struggle hard in school every day to achieve the educational goals, and who are thus most dependent on a supportive environment to cope with learning. Trustful relationships and developed interaction and cooperation in schools are in the long run also assumed to have the potential to contribute positively to attainment. The overall aim of the thesis is to study the significance of relational aspects in school development.In order to meet the thesis’ aim, a relational school development initiative grounded in school development research and theories of relational pedagogy was shaped, which was implemented in five schools during five school semesters. The relational processes that the initiative generated in the five schools respectively were longitudinally studied, out from specified research issues. Parallel qualitative and quantitative data were collected from school leaders, teachers and students. Thematic analysis was used to develop a deeper understanding of conditions for and experiences of relational school development processes. Statistical analyses were performed to infer from the longitudinal student data collected with the ‘Swedish TSR-SSE’-survey, which has been developed as a part of the studies.The main results of the thesis reveal: i) organisational and relational preconditions at the system-, school- and teacher group level define which relational school development efforts can be carried out. Teachers need to feel trust in school development processes in order to become involved and be open with own challenges and to try out real changes in practice together with colleagues and students. As conceptualised here, ‘Teacher trust’ in relational school development encompasses three mutually interacting levels: collegial trust, collective trust in the teacher team and overall process trust in the school development process; ii) students’ perceptions of teacher-student relationship quality (TSR) and students’ self-efficacy within different domains of schooling (SSE) are confirmed as inter-correlated relational school factors and seem to be appropriate for use in longitudinal follow-up of teachers’ relational school development efforts; iii) collective relational competence of teachers may develop through an increased joint awareness of how both implicit and explicit aspects of communication affect the teacher-student relationship continuously, and iv) students whose teachers appreciated a more successful collective learning process reported improved quality in the teacher-student relationship, and also expressed a raised sense of self-efficacy regarding own opportunities to succeed in school.
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| 23. |
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| 24. |
- Liang, Yuli, 1985-, et al.
(författare)
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Hypothesis testing in multivariate normal models with block circular covariance structures
- 2022
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Ingår i: Biometrical Journal. - : John Wiley & Sons. - 0323-3847 .- 1521-4036. ; 64:3, s. 557-576
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Tidskriftsartikel (refereegranskat)abstract
- In this article, we address the problem of simultaneous testing hypothesis about mean and covariance matrix for repeated measures data when both the mean vector and covariance matrix are patterned. In particular, tests about the mean vector under block circular and doubly exchangeable covariance structures have been considered. The null distributions are established for the corresponding likelihood ratio test statistics, and expressions for the exact or near-exact probability density and cumulative distribution functions are obtained. The application of the results is illustrated by both a simulation study and a real-life data example.
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| 31. |
- Pielaszkiewicz, Jolanta Maria, 1985-
(författare)
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On the asymptotic spectral distribution of random matrices : closed form solutions using free independence
- 2013
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The spectral distribution function of random matrices is an information-carrying object widely studied within Random matrix theory. In this thesis we combine the results of the theory together with the idea of free independence introduced by Voiculescu (1985).Important theoretical part of the thesis consists of the introduction to Free probability theory, which justifies use of asymptotic freeness with respect to particular matrices as well as the use of Stieltjes and R-transform. Both transforms are presented together with their properties.The aim of thesis is to point out characterizations of those classes of the matrices, which have closed form expressions for the asymptotic spectral distribution function. We consider all matrices which can be decomposed to the sum of asymptotically free independent summands.In particular, explicit calculations are performed in order to illustrate the use of asymptotic free independence to obtain the asymptotic spectral distribution for a matrix Q and generalize Marcenko and Pastur (1967) theorem. The matrix Q is defined as where Xi is p × n matrix following a matrix normal distribution, Xi ~ Np,n(0, \sigma^2I, I).Finally, theorems pointing out classes of matrices Q which lead to closed formula for the asymptotic spectral distribution will be presented. Particularly, results for matrices with inverse Stieltjes transform, with respect to the composition, given by a ratio of polynomials of 1st and 2nd degree, are given.
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| 36. |
- Schneppenheim, Reinhard, et al.
(författare)
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A common origin of the 4143insA ADAMTS13 mutation
- 2006
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Ingår i: Thrombosis and Haemostasis. - 0340-6245. ; 96:1, s. 3-6
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Tidskriftsartikel (refereegranskat)abstract
- Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease,ADAMTS 13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS 13 is rather heterogeneous, and numerous mutations spread across the gene have been described in association with congenital TTP. The 4143insA mutation is unusual with respect to its geographic concentration. Following the initial report from Germany in which the 4143insA mutation was detected in four apparently unrelated families, we have now identified this mutation in a further eleven patients from Norway, Sweden, Poland, Germany, the Czech Republic and Australia. Confirmation that the Australian patient is of German ancestry, together with the Northern and Central European origin of most of the other patients, suggests that the 4143insA mutation has a common genetic background.We established ADAMTS 13 haplotypes by analyzing 17 polymorphic intragenic markers.The haplotypes linked to 4143insA were identical in all informative families. Three novel candidate mutations, C347S, P67IL and RI060W, as well as the known mutation R507Q, were also identified during the course of the study.We conclude that 4143insA has a common genetic background and is frequent among patients with hereditary ADAMTS 13 deficiency in Northern and Central European countries.
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| 37. |
- von der Lieth, Claus-Wilhelm, et al.
(författare)
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EUROCarbDB : an open-access platform for glycoinformatics
- 2011
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Ingår i: Glycobiology. - : Oxford University Press (OUP). - 0959-6658 .- 1460-2423. ; 21:4, s. 493-502
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Tidskriftsartikel (refereegranskat)abstract
- The EUROCarbDB project is a design study for a technical framework, which provides sophisticated, freely accessible, open-source informatics tools and databases to support glycobiology and glycomic research. EUROCarbDB is a relational database containing glycan structures, their biological context and, when available, primary and interpreted analytical data from high-performance liquid chromatography, mass spectrometry and nuclear magnetic resonance experiments. Database content can be accessed via a web-based user interface. The database is complemented by a suite of glycoinformatics tools, specifically designed to assist the elucidation and submission of glycan structure and experimental data when used in conjunction with contemporary carbohydrate research workflows. All software tools and source code are licensed under the terms of the Lesser General Public License, and publicly contributed structures and data are freely accessible. The public test version of the web interface to the EUROCarbDB can be found at http://www.ebi.ac.uk/eurocarb.
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| 43. |
- von Rosen, Tatjana, et al.
(författare)
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Statistical Study of Factors Affecting Knee Joint Space and Osteophytes in the Population with Early Knee Osteoarthritis
- 2013
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Ingår i: Multivariate Statistics: Theory and Applications. - Singapore : World Scientific. - 9789814449397 ; , s. 141-156
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Bokkapitel (refereegranskat)abstract
- Two basic components of the radiographically measured knee osteoarthritis (KOA), joint space width (JSW) and size of osteophytes (OPH), were studied in order to characterize early stage of KOA and to reveal additional aspects of grading it. The study was conducted in 161 individuals (100 women and 61 men, 34{54 years old). A linear mixed and a generalized linear models were used to identify risk factors for JSW and OPH. Accounting for intra- and inter-knee correlations in these models is novel for knee studies. We obtained that at the early stage of KOA, JSW is more constitutionrelated, while the appearance of OPH more disease-related. The e®ect of gender on JSW was su±ciently large to establish di®erent de¯nitions of KOA for genders. In this case attention should be paid to the medial compartment as the narrower one. Our ¯ndings also suggested that the height of women could be taken into account when grading KOA, and that the imbalance between knee and thigh circumferences refers to the presence of OPH.
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