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- 2019
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Tidskriftsartikel (refereegranskat)
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- Wijns, W, et al.
(författare)
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Myocardial revascularization
- 2011
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Ingår i: REVISTA PORTUGUESA DE CARDIOLOGIA. - : Elsevier BV. - 0870-2551 .- 2174-2049. ; 30:12, s. 951-1005
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Erdinc, Direnis, et al.
(författare)
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
- 2023
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Ingår i: Embo Molecular Medicine. - 1757-4676. ; 15:5
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Tidskriftsartikel (refereegranskat)abstract
- Topoisomerase 3 alpha (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replication respectively. Pathogenic variants in TOP3A can cause a disorder similar to Bloom syndrome, which results from bi-allelic pathogenic variants in BLM, encoding a nuclear-binding partner of TOP3A. In this work, we describe 11 individuals from 9 families with an adult-onset mitochondrial disease resulting from bi-allelic TOP3A gene variants. The majority of patients have a consistent clinical phenotype characterised by bilateral ptosis, ophthalmoplegia, myopathy and axonal sensory-motor neuropathy. We present a comprehensive characterisation of the effect of TOP3A variants, from individuals with mitochondrial disease and Bloom-like syndrome, upon mtDNA maintenance and different aspects of enzyme function. Based on these results, we suggest a model whereby the overall severity of the TOP3A catalytic defect determines the clinical outcome, with milder variants causing adult-onset mitochondrial disease and more severe variants causing a Bloom-like syndrome with mitochondrial dysfunction in childhood.
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- Gonzalez-Beltran, AN, et al.
(författare)
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Community standards for open cell migration data
- 2020
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Ingår i: GigaScience. - : Oxford University Press (OUP). - 2047-217X. ; 9:5
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Tidskriftsartikel (refereegranskat)abstract
- Cell migration research has become a high-content field. However, the quantitative information encapsulated in these complex and high-dimensional datasets is not fully exploited owing to the diversity of experimental protocols and non-standardized output formats. In addition, typically the datasets are not open for reuse. Making the data open and Findable, Accessible, Interoperable, and Reusable (FAIR) will enable meta-analysis, data integration, and data mining. Standardized data formats and controlled vocabularies are essential for building a suitable infrastructure for that purpose but are not available in the cell migration domain. We here present standardization efforts by the Cell Migration Standardisation Organisation (CMSO), an open community-driven organization to facilitate the development of standards for cell migration data. This work will foster the development of improved algorithms and tools and enable secondary analysis of public datasets, ultimately unlocking new knowledge of the complex biological process of cell migration.
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- Sergeant, D., et al.
(författare)
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Listeners’ identification of gender differences in children’s singing
- 2005
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Ingår i: Research Studies in Music Education. - 1321-103X .- 1834-5530. ; 24:1, s. 28-29
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Tidskriftsartikel (refereegranskat)abstract
- Four listeners who were experienced with children's voices audited 320 samples of children's singing voices from the age range 4-11 years and judged the sexi of each singer using a response procedure that incorporated a confidence measure. Inter-judge correlations were high. 71.57% of identifications were positive and 44.37% were made with the maximum confidence level. Trend analyses showed a significant relationship between sex identification and age for boys, but this was not evident for girls.The response procedure allowed the creation of an index of confusability for each singer. When the most confusable and least confusable singers of each gender were identified, and their mean group ages calculated, highly significant differences between the ages of the most and least confusable boys were noted, but differences for girls were not significant.Introspections by judges as to auditory cues that they considered had contributed to their judgments reflected factors that have been suggested in the speech research literature. These included breathiness and huskiness of tone at higher frequencies, differences in consonants and perceived personality factors.The data indicate the presence of gender characteristics in children's singing voices sufficient to permit identifications at levels at least as reliable as those demonstrated for speech. Nevertheless, a small percentage of children of each sex and each age group were misattributed by all four judges.
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- Welch, G.F., et al.
(författare)
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The role of linguistic dominance in the acquisition of song
- 1998
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Ingår i: Research Studies in Music Education. - 1321-103X .- 1834-5530. ; 10:1, s. 67-74
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Tidskriftsartikel (refereegranskat)abstract
- There is a growing body of evidence to suggest that there is a developmental sequence in children's singing, with certain singing behaviours having developmental primacy over others. The research literature indicates that, when learning songs, children first focus on the linguistic features, then rhythm, and finally the pitch and melodic attributes. This theorised hierarchy was examined as part of a larger study of singing development in early childhood in which a longitudinal sample (n=184) were assessed on a variety of vocal pitch matching tasks during each year of their first three years at school, i.e. at age five, six and seven years. In each year of testing, the assessment protocol embraced a specially-designed test battery and two sample songs. The protocol was constructed so that the test battery items (pitch glides, pitch patterns and single pitches) were deconstructed features of the two test songs, thus enabling an analysis to be made of the effects of the task on vocal pitch matching performance. The results suggest that children enter school with a clear disposition towards learning the words of the songs. In general, this ability is not matched by an ability to learn and reproduce the melodic components of the test songs. It is only in the third year of schooling that vocal pitch matching in song singing improves, but this particular ability is still significantly less well developed than that for learning and reproducing the words. 'For singers are given honour and respect by all people on the earth, since the Muse has taught them their songs, and she loves the race of singers' (Homer Odyssey).
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- White, Peta, 1961-, et al.
(författare)
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Some observations on the singing development of five-year-olds
- 1996
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Ingår i: Early Child Development and Care. - : Informa UK Limited. - 0300-4430 .- 1476-8275. ; 118:1, s. 27-34
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Tidskriftsartikel (refereegranskat)abstract
- This paper reports on the first year of investigation of a major longitudinal study into young children's singing development. A central focus during this first year was the design and piloting of a research protocol which would be valid for (a) a longitudinal sample of five-year-old children and (b) a comparative sample aged three to twelve years. The research instrument included specially-composed songs and a range of complementary pitch stimuli. Early results have provided an indication of five-year-olds' developing singing abilities and also offer an insight into the difficulties inherent in assessing young children's vocalisations within a changing school context.
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