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- Izzo, A, et al.
(författare)
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Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses
- 2017
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Ingår i: International journal of genomics. - : Hindawi Limited. - 2314-436X .- 2314-4378. ; 2017, s. 8737649-
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Tidskriftsartikel (refereegranskat)abstract
- Dosage-dependent upregulation of most of chromosome 21 (Hsa21) genes has been demonstrated in heart tissues of fetuses with Down syndrome (DS). Also miRNAs might play important roles in the cardiac phenotype as they are highly expressed in the heart and regulate cardiac development. Five Hsa21 miRNAs have been well studied in the past: miR-99a-5p, miR-125b-2-5p, let-7c-5p, miR-155-5p, and miR-802-5p but few information is available about their expression in trisomic tissues. In this study, we evaluated the expression of these miRNAs in heart tissues from DS fetuses, showing that miR-99a-5p, miR-155-5p, and let-7c-5p were overexpressed in trisomic hearts. To investigate their role, predicted targets were obtained from different databases and cross-validated using the gene expression profiling dataset we previously generated for fetal hearts. Eighty-five targets of let-7c-5p, 33 of miR-155-5p, and 10 of miR-99a-5p were expressed in fetal heart and downregulated in trisomic hearts. As nuclear encoded mitochondrial genes were found downregulated in trisomic hearts and mitochondrial dysfunction is a hallmark of DS phenotypes, we put special attention to let-7c-5p and miR-155-5p targets downregulated in DS fetal hearts and involved in mitochondrial function. The let-7c-5p predicted targetSLC25A4/ANT1was identified as a possible candidate for both mitochondrial and cardiac anomalies.
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| 3. |
- Passariello, A., et al.
(författare)
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Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy
- 2013
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212. ; 56:11, s. 626-634
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Tidskriftsartikel (refereegranskat)abstract
- Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed. (C) 2013 Elsevier Masson SAS. All rights reserved.
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| 6. |
- Ross, I., et al.
(författare)
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How do variations in the temporal distribution of rainfall events affect ecosystem fluxes in seasonally water-limited Northern Hemisphere shrublands and forests?
- 2012
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4189. ; 9:3, s. 1007-1024
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Tidskriftsartikel (refereegranskat)abstract
- Rainfall regimes became more extreme over the course of the 20th century, characterised by fewer and larger rainfall events. Such changes are expected to continue throughout the current century. The effect of changes in the temporal distribution of rainfall on ecosystem carbon fluxes is poorly understood, with most available information coming from experimental studies of grassland ecosystems. Here, continuous measurements of ecosystem carbon fluxes and precipitation from the worldwide FLUXNET network of eddy-covariance sites are exploited to investigate the effects of differences in rainfall distribution on the carbon balance of seasonally water-limited shrubland and forest sites. Once the strong dependence of ecosystem fluxes on total annual rainfall amount is accounted for, results show that sites with rainfall distributions characterised by fewer and larger rainfall events have significantly lower gross primary productivity, slightly lower ecosystem respiration and consequently a smaller net ecosystem productivity.
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