| 1. |
- Walters, R G, et al.
(författare)
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
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Tidskriftsartikel (refereegranskat)abstract
- Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
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| 2. |
- Feasson, L., et al.
(författare)
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Exercise therapy and myopathies
- 2010
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Ingår i: Revue neurologique (Paris). - : Elsevier BV. - 0035-3787 .- 2213-0004. ; 166:3, s. 269-278
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Forskningsöversikt (refereegranskat)abstract
- Since the first consensus papers published early in the 2000s, a growing number of recent publications has shown that adapted physical activity is not only safe in the context of myopathy but also potentially effective as a therapeutic tool. After a short recall of the different exercise modalities, the mechanical strain they induce and the expected muscular benefits, the present paper reviews the different studies related to exercise therapy in myopathic patients and provides a critical analysis of the topic. Myopathies are rare diseases with many different etiologies and a large number of training modalities which could be useful for the different muscular challenges have been proposed. We have chosen to focus on several specific training modalities and to discuss the results from the most recent papers. The purpose of this review is to, firstly, update physical training guidelines for patients with myopathy and, secondly, highlight some common pitfalls associated with this strategy. This is particularly important for medical and allied professionals involved in prescribing and managing exercise therapy protocols. (C) 2009 Elsevier Masson SAS. All rights reserved.
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| 3. |
- Schattschneider, P., et al.
(författare)
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Energy loss magnetic chiral dichroism : A new technique for the study of magnetic properties in the electron microscope (invited)
- 2008
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Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 103:7, s. 07D931-
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Tidskriftsartikel (refereegranskat)abstract
- The similarity between x-ray absorption near edge structure and electron energy loss near edge structure is well known. However, "exporting" x-ray magnetic circular dichroism (XMCD) to the transmission electron microscope (TEM) was considered impossible with present technology since electron probes possessing chirality (i.e., spin polarization) cannot be set up with sufficient intensity. But recently magnetically induced chiral electronic transitions were detected in the TEM. In analogy to XMCD we introduced the term EMCD (energy loss magnetic chiral dichroism). The mechanism builds upon the formal equivalence between the mixed dynamic form factor for inelastic electron scattering and the absorption cross section for x-rays. Experiments on the 3d ferromagnets show effects very similar to XMCD. Calculations based on the WIEN2K package are in good agreement with experiments. The recent improvement in signal strength and spatial resolution allows now to study atom specific spin and orbital moments on a scale of less than 10 nm, an important progress for spintronics and nanomagnetism.
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