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- Concepcion Gil-Rodriguez, Maria, et al.
(författare)
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- 2015
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Ingår i: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
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Tidskriftsartikel (refereegranskat)abstract
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
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| 2. |
- Martins, Ernane de Freitas, et al.
(författare)
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The role of water on the electronic transport in graphene nanogap devices designed for DNA sequencing
- 2020
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Ingår i: Carbon. - : Elsevier BV. - 0008-6223 .- 1873-3891. ; 158, s. 314-319
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Tidskriftsartikel (refereegranskat)abstract
- Innovative methodologies for reliably and inexpensively sequencing DNA can lead to a new era of personalized medicine. In this work, we performed a theoretical investigation of a nanogap-based all electronic DNA sequencing device. To do so, we used a nitrogen-terminated nanogap on a graphene sheet with the aqueous environment fully taken into account. Our investigation is performed using a hybrid methodology combining quantum and classical mechanics coupled to non-equilibrium Green's functions for solving the electron transport across the device. The obtained results show that the DNA nucleotides can be both detected and distinguished in such a device, which indicates that it can be used as a DNA sequencing device providing very high sensitivity and selectivity. Furthermore, our results show that water plays a major role in electronic transport in nanoscopic tunneling devices, not only from an electrostatics point of view, but also by providing states that significantly increase the conductance in nanogap-based DNA sequencing devices.
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| 3. |
- Nikolic, Marina, et al.
(författare)
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Improving the reporting quality of intervention trials addressing the inter-individual variability in response to the consumption of plant bioactives : quality index and recommendations
- 2019
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Ingår i: European Journal of Nutrition. - : Springer Science and Business Media LLC. - 1436-6207 .- 1436-6215. ; 58:S2, s. 49-64
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Forskningsöversikt (refereegranskat)abstract
- Purpose: The quality of the study design and data reporting in human trials dealing with the inter-individual variability in response to the consumption of plant bioactives is, in general, low. There is a lack of recommendations supporting the scientific community on this topic. This study aimed at developing a quality index to assist the assessment of the reporting quality of intervention trials addressing the inter-individual variability in response to plant bioactive consumption. Recommendations for better designing and reporting studies were discussed. Methods: The selection of the parameters used for the development of the quality index was carried out in agreement with the scientific community through a survey. Parameters were defined, grouped into categories, and scored for different quality levels. The applicability of the scoring system was tested in terms of consistency and effort, and its validity was assessed by comparison with a simultaneous evaluation by experts’ criteria. Results: The “POSITIVe quality index” included 11 reporting criteria grouped into four categories (Statistics, Reporting, Data presentation, and Individual data availability). It was supported by detailed definitions and guidance for their scoring. The quality index score was tested, and the index demonstrated to be valid, reliable, and responsive. Conclusions: The evaluation of the reporting quality of studies addressing inter-individual variability in response to plant bioactives highlighted the aspects requiring major improvements. Specific tools and recommendations favoring a complete and transparent reporting on inter-individual variability have been provided to support the scientific community on this field.
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| 4. |
- Petrova Kafkova, Marcela, et al.
(författare)
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Is There an Association Between Childhood Conditions and Exclusionfrom Social Relations in Later Life?
- 2023
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Ingår i: Polish Sociological Review. - Warsaw, Poland : Polish Sociological Association. - 1231-1413 .- 2657-4276. ; 223:3, s. 369-393
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Tidskriftsartikel (refereegranskat)abstract
- This study aims to explore the effects of childhood circumstances and conditions on the risk of exclusionfrom social relations in old age, using a life-course perspective and examining gender influence. Secondaryanalysis of SHARE. Weak and inconsistent consequences of the primary socialization context were found,however, in many cases, the expected effect is missing or contradictory. No impacts on the structure of the family oforigin were found. For men, we often found a small, but significant effect of physical aspects of childhood living.For women, the cultural capital of family of origin and the quality of relations with parents seem to have a greatereffect. Findings suggest that life-long resilience factors play an important role in the process of counterbalancingchildhood living conditions. Early socialization consequences will not necessarily lead to ESR at old age.
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