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- Glasbey, JC, et al.
(author)
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- 2021
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swepub:Mat__t
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- Van Haute, L., et al.
(author)
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
- 2023
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Journal article (peer-reviewed)abstract
- Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The TEFM gene encodes the mitochondrial transcription elongation factor responsible for enhancing the processivity of mitochondrial RNA polymerase, POLRMT. We report for the first time that TEFM variants are associated with mitochondrial respiratory chain deficiency and a wide range of clinical presentations including mitochondrial myopathy with a treatable neuromuscular transmission defect. Mechanistically, we show muscle and primary fibroblasts from the affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts. Finally, tefm knockdown in zebrafish embryos resulted in neuromuscular junction abnormalities and abnormal mitochondrial function, strengthening the genotype-phenotype correlation. Our study highlights that TEFM regulates mitochondrial transcription elongation and its defect results in variable, tissue-specific neurological and neuromuscular symptoms.
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| 9. |
- Rubio, Isabel T., et al.
(author)
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EUSOMA quality indicators for non-metastatic breast cancer : An update
- 2024
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In: European Journal of Cancer. - : Elsevier. - 0959-8049 .- 1879-0852. ; 198
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Journal article (peer-reviewed)abstract
- IntroductionQuality care in breast cancer is higher if patients are treated in a Breast Center with a dedicated and specialized multidisciplinary team. Quality control is an essential activity to ensure quality care, which has to be based on the monitoring of specific quality indicators. Eusoma has proceeded with the up-dating of the 2017 Quality indicators for non-metastatic breast cancer based on the new diagnostic, locoregional and systemic treatment modalities.MethodsTo proceed with the updating, EUSOMA setup a multidisciplinary working group of BC experts and patients’ representatives. It is a comprehensive set of QIs for early breast cancer care, which are classified as mandatory, recommended, or observational. For the first time patient reported outcomes (PROMs) have been included. As used in the 2017 EUSOMA QIs, evidence levels were based on the short version of the US Agency for Healthcare Research and Quality.ResultsThis is a set of quality indicators representative for the different steps of the patient pathway in non-metastatic setting, which allow Breast Centres to monitor their performance with referring standards, i.e minimum standard and target.ConclusionsMonitoring these Quality Indicators, within the Eusoma datacentre will allow to have a state of the art picture at European Breast Centres level and the development of challenging research projects.
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| 10. |
- Velessiotis, D., et al.
(author)
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Molecular junctions made of tungsten-polyoxometalate self-assembled monolayers: Towards polyoxometalate-based molecular electronics devices
- 2011
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In: Microelectronic Engineering. - : Elsevier BV. - 0167-9317. ; 88:8, s. 2775-2777
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Journal article (peer-reviewed)abstract
- In this work, the electrical conduction of planar Au junctions electrically bridged by a polyoxometalate-based self-assembled monolayer, aimed to be used in hybrid silicon/molecular memory devices, is discussed. Tunnelling assisted by the presence of polyoxometalate anions is recognised as the main conduction mechanism for these devices. Fluctuations and hysteresis that are profoundly observed in the current-voltage characteristics for the smallest junctions suggest that the anions number is the more crucial factor in the devices behaviour. Quantitative analysis of the obtained characteristics based on Simmons's model reveals an increase in the tunnelling barrier height as the electrode distance increases from 20 to 200 nm. (C) 2011 Elsevier B.V. All rights reserved.
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