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Sökning: WFRF:(Kimber S)

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  • Dahan-Oliel, N., et al. (författare)
  • International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
  • 2019
  • Ingår i: American Journal of Medical Genetics Part C-Seminars in Medical Genetics. - 1552-4868. ; 181:3, s. 288-299
  • 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.
  • Li, Ni L., et al. (författare)
  • Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism
  • 2017
  • Ingår i: Cell Reports. - : Cell Press. - 2211-1247. ; 20:11, s. 2556-2564
  • 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.
  • Went, Molly, et al. (författare)
  • Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
  • 2018
  • Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723 .- 2041-1723. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 9974 MM cases and 247,556 controls of European ancestry. Collectively, these data provide evidence for six new MM risk loci, bringing the total number to 23. Integration of information from gene expression, epigenetic profiling and in situ Hi-C data for the 23 risk loci implicate disruption of developmental transcriptional regulators as a basis of MM susceptibility, compatible with altered B-cell differentiation as a key mechanism. Dysregulation of autophagy/apoptosis and cell cycle signalling feature as recurrently perturbed pathways. Our findings provide further insight into the biological basis of MM.
  • Ajore, Ram, et al. (författare)
  • Functional dissection of inherited non-coding variation influencing multiple myeloma risk
  • 2022
  • Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 13:1
  • 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.
  • Andersson, Bo, et al. (författare)
  • Small x phenomenology: summary and status
  • 2002
  • Ingår i: European Physical Journal C. Particles and Fields. - : Springer. - 1434-6044. ; 25:1, s. 77-101
  • 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.
  • Kimber, B., et al. (författare)
  • Social and emotional training in Swedish classrooms for the promotion of mental health : Results from an effectiveness study in Sweden
  • 2008
  • Ingår i: Health Promotion International. - 0957-4824 .- 1460-2245. ; 23:2, s. 134-143
  • 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.
  • Kimber, Simon A. J., et al. (författare)
  • Charge Order at the Frontier between the Molecular and Solid States in Ba3NaRu2O9
  • 2012
  • Ingår i: Physical Review Letters. - : American Physical Society. - 1079-7114. ; 108:21
  • 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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  • [1]2Nästa

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