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- Fertleman, C. R., et al.
(author)
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Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)
- 2007
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In: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 69:6, s. 586-595
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Journal article (peer-reviewed)abstract
- OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.
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| 2. |
- Clark, Andrew G., et al.
(author)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Journal article (peer-reviewed)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 3. |
- Sodergren, Erica, et al.
(author)
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The genome of the sea urchin Strongylocentrotus purpuratus.
- 2006
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In: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 314:5801, s. 941-52
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Journal article (peer-reviewed)abstract
- We report the sequence and analysis of the 814-megabase genome of the sea urchin Strongylocentrotus purpuratus, a model for developmental and systems biology. The sequencing strategy combined whole-genome shotgun and bacterial artificial chromosome (BAC) sequences. This use of BAC clones, aided by a pooling strategy, overcame difficulties associated with high heterozygosity of the genome. The genome encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside the deuterostomes. This echinoderm genome provides an evolutionary outgroup for the chordates and yields insights into the evolution of deuterostomes.
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| 5. |
- Litnovsky, A., et al.
(author)
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Diagnostic mirrors for ITER : A material choice and the impact of erosion and deposition on their performance
- 2007
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In: Journal of Nuclear Materials. - : Elsevier BV. - 0022-3115 .- 1873-4820. ; 363, s. 1395-1402
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Journal article (peer-reviewed)abstract
- Metal mirrors will be implemented in about half of the ITER diagnostics. Mirrors in ITER will have to withstand radiation loads, erosion by charge-exchange neutrals, deposition of impurities, particle implantation and neutron irradiation. It is believed that the optical properties of diagnostic mirrors will be primarily influenced by erosion and deposition. A solution is needed for optimal performance of mirrors in ITER throughout the entire lifetime of the machine. A multi-machine research on diagnostic mirrors is currently underway in fusion facilities at several institutions and laboratories worldwide. Among others, dedicated investigations of ITER-candidate mirror materials are ongoing in Tore-Supra, TEXTOR, DIII-D, TCV, T-10 and JET. Laboratory studies are underway at IPP Kharkov (Ukraine), Kurchatov Institute (Russia) and the University of Basel (Switzerland). An overview of current research on diagnostic mirrors along with an outlook on future investigations is the subject of this paper.
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| 9. |
- Hansen, Klavs, 1958, et al.
(author)
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Obtaining colder ensembles of free clusters by using evaporation and recoil
- 2005
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In: Eur. Phys. J. D. - : Springer Science and Business Media LLC. - 1434-6060. ; 32, s. 339-345
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Journal article (peer-reviewed)abstract
- We describe a theoretical model which treats the effects of evaporation-induced recoil on the mass and temperature distributions of a collimated beam of small neutral clusters emitted by a hot-nozzle source. The model incorporates two important consequences of in-flight cluster fragmentation processes. One is the well-known statistical evaporation of atoms and dimers accompanied by cluster size redistribution and cooling, and the other is the accompanying mechanical recoil of the fragments. We predict that the filtering effect introduced by cluster recoil can be used to an advantage by separating out the off-axis cluster population. This fraction will have a significantly narrower and colder distribution of internal temperatures than the on-axis ensemble.
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