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| 2. |
- Went, M, et al.
(författare)
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Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 213-
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Tidskriftsartikel (refereegranskat)abstract
- The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, in the original HTML version of this Article, the order of authors within the author list was incorrect. The PRACTICAL consortium was incorrectly listed after Richard S. Houlston and should have been listed after Nora Pashayan. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.
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| 3. |
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| 4. |
- Dahan-Oliel, N., et al.
(författare)
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International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
- 2019
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Ingår i: American Journal of Medical Genetics Part C-Seminars in Medical Genetics. - : Wiley. - 1552-4868 .- 1552-4876. ; 181:3, s. 288-299
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Tidskriftsartikel (refereegranskat)abstract
- Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
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| 5. |
- Li, Ni L., et al.
(författare)
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Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism
- 2017
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Ingår i: Cell Reports. - : Elsevier BV. - 2211-1247. ; 20:11, s. 2556-2564
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Tidskriftsartikel (refereegranskat)abstract
- Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences tumorigenesis. We show that rs6877329 G > C resides in a predicted enhancer element that physically interacts with the transcription start site of ELL2. The rs6877329-C risk allele is associated with reduced enhancer activity and lowered ELL2 expression. Since ELL2 is critical to the B cell differentiation process, reduced ELL2 expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating MM clonal expansion. These data provide evidence for a biological mechanism underlying a hereditary risk of MM at 5q15.
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| 6. |
- Ajore, Ram, et al.
(författare)
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Functional dissection of inherited non-coding variation influencing multiple myeloma risk
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1). Notably, three of these variants co-localize with significant plasma cell caQTLs, signaling the presence of causal activity at these precise genomic positions in an endogenous chromosomal context in vivo. Our results provide a systematic functional dissection of risk loci for a hematologic malignancy.
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| 7. |
- Aldred, Jason, et al.
(författare)
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Continuous Subcutaneous Foslevodopa/Foscarbidopa in Parkinson's Disease: Safety and Efficacy Results From a 12-Month, Single-Arm, Open-Label, Phase 3 Study.
- 2023
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Ingår i: Neurology and Therapy. - 2193-8253 .- 2193-6536. ; 12:6, s. 1937-1958
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Tidskriftsartikel (refereegranskat)abstract
- Foslevodopa/foscarbidopa, a soluble formulation of levodopa/carbidopa (LD/CD) prodrugs for the treatment of Parkinson's disease (PD), is administered as a 24-hour/day continuous subcutaneous infusion (CSCI) with a single infusion site. The efficacy and safety of foslevodopa/foscarbidopa versus oral immediate-release LD/CD was previously demonstrated in patients with PD in a 12-week, randomized, double-blind, phase 3 trial (NCT04380142). We report the results of a separate 52-week, open-label, phase 3 registrational trial (NCT03781167) that evaluated the safety/tolerability and efficacy of 24-hour/day foslevodopa/foscarbidopa CSCI in patients with advanced PD.Male and female patients with levodopa-responsive PD and ≥ 2.5 hours of "Off" time/day received 24-hour/day foslevodopa/foscarbidopa CSCI at individually optimized therapeutic doses (approximately 700-4250 mg of LD per 24 hours) for 52 weeks. The primary endpoint was safety/tolerability. Secondary endpoints included changes from baseline in normalized "Off" and "On" time, percentage of patients reporting morning akinesia, Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Parkinson's Disease Sleep Scale-2 (PDSS-2), 39-item Parkinson's Disease Questionnaire (PDQ-39), and EuroQol 5-dimension questionnaire (EQ-5D-5L).Of 244 enrolled patients, 107 discontinued, and 137 completed treatment. Infusion site events were the most common adverse events (AEs). AEs were mostly nonserious (25.8% of patients reported serious AEs) and mild/moderate in severity. At week 52, "On" time without troublesome dyskinesia and "Off" time were improved from baseline (mean [standard deviation (SD)] change in normalized "On" time without troublesome dyskinesia, 3.8 [3.3] hours; normalized "Off" time, -3.5 [3.1] hours). The percentage of patients experiencing morning akinesia dropped from 77.7% at baseline to 27.8% at week 52. Sleep quality (PDSS-2) and quality of life (PDQ-39 and EQ-5D-5L) also improved.Foslevodopa/foscarbidopa has the potential to provide a safe and efficacious, individualized, 24-hour/day, nonsurgical alternative for patients with PD.ClinicalTrials.gov identifier NCT03781167.
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| 8. |
- Andersson, Bo, et al.
(författare)
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Small x phenomenology: summary and status
- 2002
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Ingår i: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 25:1, s. 77-101
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Forskningsöversikt (refereegranskat)abstract
- The aim of this paper is to summarize the general status of our understanding of small-x physics. It is based on presentations and discussions at an informal meeting OIL this topic held in Lund, Sweden, in March 2001. This document also marks the founding of an informal collaboration between experimentalists and theoreticians with a special interest in small-x physics. This paper is dedicated to the memory of Bo Andersson. who died unexpectedly from a heart attack on March 4th, 2002.
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| 9. |
- Kimber, B., et al.
(författare)
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Social and emotional training in Swedish classrooms for the promotion of mental health : Results from an effectiveness study in Sweden
- 2008
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Ingår i: Health Promotion International. - : Oxford University Press (OUP). - 0957-4824 .- 1460-2245. ; 23:2, s. 134-143
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Tidskriftsartikel (refereegranskat)abstract
- Mental ill-health is a major problem worldwide. It includes depression, aggressive behavior, feeling down and alcohol and drug abuse. Since all children go to school, the school is an obvious arena for health interventions. A set of educational techniques named Social and Emotional Learning, based on the use by teachers of cognitive and behavioral methods, which teaches students self-control, social competence, empathy, motivation and self-awareness, has shown promising results in the USA. This paper reports on the application of similar techniques in Sweden (the Social and Emotional Training [SET] program). The study has a quasi-experimental longitudinal design, with two intervention and two control schools. A wide range of instruments, both Swedish and international, are employed. In this paper, results from the school years 1999-2000 (baseline) through to 2001-2002 are reported. Both the intervention and the data collection were performed by ordinary school staff in a routine school setting. Independent bi-annual ratings of teachers' performance were moderate to high, and teachers' perceptions of the program were generally, although by no means universally, high. However, their performance was poorer with regard to the collection of data. In terms of promotion, findings with regard to the impact of the program on mental health are generally favorable - in particular through the promotion of aspects of self-image, including well-being and the hindering of aggressiveness, bullying, attention-seeking and alcohol use. There was, however, no differential effect on social skills. It seems that SET has the potential to operate effectively as a health-promoting intervention during the school period, although its main impact may rather be to act as a brake on the deterioration in some aspects of mental health that is common during adolescence. Positively significant relationships were found on some but not all of the instrument scales, and effect sizes were medium. © The Author (2008). Published by Oxford University Press. All rights reserved.
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| 10. |
- Kimber, Simon A. J., et al.
(författare)
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Charge Order at the Frontier between the Molecular and Solid States in Ba3NaRu2O9
- 2012
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Ingår i: Physical Review Letters. - 1079-7114. ; 108:21
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Tidskriftsartikel (refereegranskat)abstract
- We show that the valence electrons of Ba3NaRu2O9, which has a quasimolecular structure, completely crystallize below 210 K. Using an extended Hubbard model, we show that the charge ordering instability results from long-range Coulomb interactions. However, orbital ordering, metal-metal bonding, and formation of a partial spin gap enforce the magnitude of the charge separation. The striped charge order and frustrated hcp lattice of Ru2O9 dimers lead to competition with a quasidegenerate charge-melted phase under photoexcitation at low temperature. Our results establish a broad class of simple metal oxides as models for emergent phenomena at the border between the molecular and solid states.
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