| 1. |
- Aad, G., et al.
(författare)
-
- 2013
-
Tidskriftsartikel (refereegranskat)
|
|
| 2. |
- Appeltans, W., et al.
(författare)
-
The Magnitude of Global Marine Species Diversity
- 2012
-
Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 22:23, s. 2189-2202
-
Tidskriftsartikel (refereegranskat)abstract
- Background: The question of how many marine species exist is important because it provides a metric for how much we do and do not know about life in the oceans. We have compiled the first register of the marine species of the world and used this baseline to estimate how many more species, partitioned among all major eukaryotic groups, may be discovered. Results: There are similar to 226,000 eukaryotic marine species described. More species were described in the past decade (similar to 20,000) than in any previous one. The number of authors describing new species has been increasing at a faster rate than the number of new species described in the past six decades. We report that there are similar to 170,000 synonyms, that 58,000-72,000 species are collected but not yet described, and that 482,000-741,000 more species have yet to be sampled. Molecular methods may add tens of thousands of cryptic species. Thus, there may be 0.7-1.0 million marine species. Past rates of description of new species indicate there may be 0.5 +/- 0.2 million marine species. On average 37% (median 31%) of species in over 100 recent field studies around the world might be new to science. Conclusions: Currently, between one-third and two-thirds of marine species may be undescribed, and previous estimates of there being well over one million marine species appear highly unlikely. More species than ever before are being described annually by an increasing number of authors. If the current trend continues, most species will be discovered this century.
|
|
| 3. |
- Bates, R. L., et al.
(författare)
-
The ATLAS SCT grounding and shielding concept and implementation
- 2012
-
Ingår i: Journal of Instrumentation. - 1748-0221. ; 7, s. P03005-
-
Tidskriftsartikel (refereegranskat)abstract
- This paper describes the design and implementation of the grounding and shielding system for the ATLAS SemiConductor Tracker (SCT). The mitigation of electromagnetic interference and noise pickup through power lines is the critical design goal as they have the potential to jeopardize the electrical performance. We accomplish this by adhering to the ATLAS grounding rules, by avoiding ground loops and isolating the different subdetectors. Noise sources are identified and design rules to protect the SCT against them are described. A rigorous implementation of the design was crucial to achieve the required performance. This paper highlights the location, connection and assembly of the different components that affect the grounding and shielding system: cables, filters, cooling pipes, shielding enclosure, power supplies and others. Special care is taken with the electrical properties of materials and joints. The monitoring of the grounding system during the installation period is also discussed. Finally, after connecting more than four thousand SCT modules to all of their services, electrical, mechanical and thermal within the wider ATLAS experimental environment, dedicated tests show that noise pickup is minimised.
|
|
| 4. |
- Beysard, M, et al.
(författare)
-
Asymmetric and differential gene introgression at a contact zone between two highly divergent lineages of field voles (Microtus agrestis)
- 2012
-
Ingår i: Journal of Evolutionary Biology. - : Wiley-Blackwell. - 1010-061X .- 1420-9101. ; 25:2, s. 400-408
-
Tidskriftsartikel (refereegranskat)abstract
- Secondary contact zones have the potential to shed light on the mode and rate at which reproductive isolation accumulates during allopatric speciation. We investigated the population genetics of a contact zone between two highly divergent lineages of field voles (Microtus agrestis) in the Swiss Jura mountains. To shed light on the processes underlying introgression, we used maternally, paternally, and bi-parentally inherited markers. Though the two lineages maintained a strong genetic structure, we found some hybrids and evidence of gene flow. The extent of introgression varied with the mode of inheritance, being highest for mtDNA and absent for the Y chromosome. In addition, introgression was asymmetric, occurring only from the Northern to the Southern lineage. Both patterns seem parsimoniously explained by neutral processes linked to differences in effective sizes and sex-biased dispersal rates. The lineage with lower effective population size was also the more introgressed, and the mode-of-inheritance effect correlated with the male-biased dispersal rate of microtine rodents. We cannot exclude, however, that Haldanes effect contributed to the latter, as we found a marginally significant deficit in males (the heterogametic sex) among hybrids. We propose a possible demographic scenario to account for the patterns documented, and empirical extensions to further investigate this contact zone.
|
|
| 5. |
- Dumas, Georges, et al.
(författare)
-
Clinical interest of postural and vestibulo-ocular reflex changes induced by cervical muscles and skull vibration in compensated unilateral vestibular lesion patients
- 2013
-
Ingår i: Journal of Vestibular Research. - 1878-6464. ; 23:1, s. 41-49
-
Tidskriftsartikel (refereegranskat)abstract
- Skull vibration induces nystagmus in unilateral vestibular lesion (UVL) patients. Vibration of skull, posterior cervical muscles or inferior limb muscles alters posture in recent UVL patients. This study aimed to investigate the postural effect of vibration in chronic compensated UVL patients. Vibration was applied successively to vertex, each mastoid, each side of posterior cervical muscles and of triceps surae in 12 UVL patients and 9 healthy subjects. Eye movements were recorded with videonystagmography. Postural control was evaluated in eyes open (EO) and eyes closed (EC) conditions. Sway area, sway path, anteroposterior and medio-lateral sways were recorded. A vibration induced nystagmus (VIN) beating toward the healthy side was obtained for each UVL patient during mastoid vibration. In EO, only sway path was higher in UVL group during vibration of mastoids and posterior cervical muscles. The EO postural impairments of UVL patients could be related to the eye movements or VIN, leading to visual perturbations, or to a proprioceptive error signal, providing an erroneous representation of head position. The vibration-induced sway was too small to be clinically useful. Vestibulo-ocular reflex observed with videonystagmography during mastoid vibration seems more relevant to reveal chronic UVL than vestibulo-spinal reflex observed with posturography.
|
|
| 6. |
- Kingma, Herman, et al.
(författare)
-
Stocktaking on the development of posturography for clinical use
- 2011
-
Ingår i: Journal of Vestibular Research. - 1878-6464. ; 21:3, s. 117-125
-
Tidskriftsartikel (refereegranskat)abstract
- This report identifies fundamental problems to be addressed in order to build relevant clinical tests of human balance while standing. The stated purpose of these tests is identification of lesion site and/or definition of functional balance deficits in a specific patient. During a recent consensus meeting (ESCEBD), 60 researchers and experienced clinical users of posturography (14 European countries, 9 different disciplines) inventoried and critically analyzed the various methodologies of posturography currently used for clinical evaluation. To complement posturography, alternative methods of assessment of balance control were considered. The indications for the clinical use of posturography were defined as well as recommendations regarding measurement parameters, type of perturbations and signal analysis techniques to improve assessment of balance control. Consensus was reached that a force platform cannot be considered as a technique which is sufficient on its own to perform a clinically relevant test for the assessment of neuro-otological and musculo-skeletal conditions, evaluation of compensation or treatment (rehabilitation) or prediction of falls. It should be supported by complementary methods, such as segment motion analysis, body-fixed 2D or 3D accelerometer-gyroscope or electromyography. At present, no generally applicable posturography test is available with reasonable sensitivity and specificity for the diagnosis of balance disorders. Perturbation techniques are most likely needed to enhance the diagnostic yield of posturography.
|
|
| 7. |
- Kirby, Andrew, et al.
(författare)
-
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:3, s. 299-303
-
Tidskriftsartikel (refereegranskat)abstract
- Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. Ultimately, only by cloning, capillary sequencing and de novo assembly did we find that each of six families with MCKD1 harbors an equivalent but apparently independently arising mutation in sequence markedly under-represented in massively parallel sequencing data: the insertion of a single cytosine in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (similar to 1.5-5 kb), GC-rich (>80%) coding variable-number tandem repeat (VNTR) sequence in the MUC1 gene encoding mucin 1. These results provide a cautionary tale about the challenges in identifying the genes responsible for mendelian, let alone more complex, disorders through massively parallel sequencing.
|
|
| 8. |
- Leblond, Claire S, et al.
(författare)
-
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
- 2014
-
Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:9
-
Tidskriftsartikel (refereegranskat)abstract
- SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
|
|
| 9. |
|
|
