| 1. |
- Dominguez, Mev, et al.
(författare)
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Mutation spectrum in South American Lynch syndrome families
- 2013
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Ingår i: Hereditary Cancer in Clinical Practice. - : Springer Science and Business Media LLC. - 1897-4287. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Background: Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system. Methods: We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria and/or the Bethesda guidelines from Argentina, Brazil, Chile, Colombia and Uruguay were included. Results: Disease-predisposing mutations were identified in 37% of the families and affected MLH1 in 60% and MSH2 in 40%. Half of the mutations have not previously been reported and potential founder effects were identified in Brazil and in Colombia. Conclusion: The South American Lynch syndrome mutation spectrum includes multiple new mutations, identifies potential founder effects and is useful for future development of genetic testing in this continent.
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| 2. |
- Calleja, Maria Ll., et al.
(författare)
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Prevalence of strong vertical CO2 and O-2 variability in the top meters of the ocean
- 2013
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Ingår i: Global Biogeochemical Cycles. - : American Geophysical Union (AGU). - 0886-6236. ; 27:3, s. 941-949
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Tidskriftsartikel (refereegranskat)abstract
- The gradient in the partial pressure of carbon dioxide (pCO(2)) across the air-sea boundary layer is the main driving force for the air-sea CO2 flux. Global data bases for surface seawater pCO(2) are actually based on pCO(2) measurements from several meters below the sea surface, assuming a homogeneous distribution between the diffusive boundary layer and the upper top meters of the ocean. Compiling vertical profiles of pCO(2), temperature, and dissolved oxygen in the upper 5-8 m of the ocean from different biogeographical areas, we detected a mean difference between the boundary layer and 5 m pCO(2) of 131 mu atm. Temperature gradients accounted for only 11% of this pCO(2) gradient in the top meters of the ocean; thus, pointing to a heterogeneous biological activity underneath the air-sea boundary layer as the main factor controlling the top meters pCO(2) variability. Observations of pCO(2) just beneath the air-sea boundary layer should be further investigated in order to estimate possible biases in calculating global air-sea CO2 fluxes.
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| 3. |
- Escott-Price, Valentina, et al.
(författare)
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Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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| 4. |
- Romero-Picó, Amparo, et al.
(författare)
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Hypothalamic κ-Opioid Receptor Modulates the Orexigenic Effect of Ghrelin.
- 2013
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Ingår i: Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. - : Springer Science and Business Media LLC. - 1740-634X. ; 38:7, s. 1296-307
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Tidskriftsartikel (refereegranskat)abstract
- The opioid system is well recognized as an important regulator of appetite and energy balance. We now hypothesized that the hypothalamic opioid system might modulate the orexigenic effect of ghrelin. Using pharmacological and gene silencing approaches, we demonstrate that ghrelin utilizes a hypothalamic κ-opioid receptor (KOR) pathway to increase food intake in rats. Pharmacological blockade of KOR decreases the acute orexigenic effect of ghrelin. Inhibition of KOR expression in the hypothalamic arcuate nucleus is sufficient to blunt ghrelin-induced food intake. By contrast, the specific inhibition of KOR expression in the ventral tegmental area does not affect central ghrelin-induced feeding. This new pathway is independent of ghrelin-induced AMP-activated protein kinase activation, but modulates the levels of the transcription factors and orexigenic neuropeptides triggered by ghrelin to finally stimulate feeding. Our novel data implicate hypothalamic KOR signaling in the orexigenic action of ghrelin.
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