9 documents found, page 1 of 1
Spatially explicit analysis reveals complex human genetic gradients in the Iber...
Pimenta, J; Lopes, AM; Carracedo, A; Arenas, M; Amorim, A; Comas, DThe Iberian Peninsula is a well-delimited geographic region with a rich and complex human history. However, the causes of its genetic structure and past migratory dynamics are not yet fully understood. In order to shed light on them, here we evaluated the gene flow and genetic structure throughout the Iberian Peninsula with spatially explicit modelling applied to a georeferenced genetic dataset composed of geno...
Congenital Hyperinsulinism in Two Siblings with ABCC8 Mutation: Same Genotype, ...
Sousa-Santos, F; Simões, H; Castro-Feijóo, L; Rodríguez, P; Fernández-Marmiesse, A; Fiaño, R; Rego, T; Carracedo, A; Conde, JCongenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias duri...
Patterns of Default Mode Network Deactivation in Obsessive Compulsive Disorder
Gonçalves, ÓF; Soares, JM; Carvalho, S; Leite, J; Ganho-Ávila, A; Fernandes-Gonçalves, A; Pocinho, F; Carracedo, A; Sampaio, AThe objective of the present study was to research the patterns of Default Mode Network (DMN) deactivation in Obsessive Compulsive Disorder (OCD) in the transition between a resting and a non-rest emotional condition. Twenty-seven participants, 15 diagnosed with OCD and 12 healthy controls (HC), underwent a functional neuroimaging paradigm in which DMN brain activation in a resting condition was contrasted with...
Forensic genetics and genomics: Much more than just a human affair
Arenas, M; Pereira, F; Oliveira, M; Pinto, N; Lopes, A; Gomes, V; Carracedo, A; Amorim, AWhile traditional forensic genetics has been oriented towards using human DNA in criminal investigation and civil court cases, it currently presents a much wider application range, including not only legal situations sensu stricto but also and, increasingly often, to preemptively avoid judicial processes. Despite some difficulties, current forensic genetics is progressively incorporating the analysis of nonhuma...
A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapp...
Seixas, AI; Loureiro, JR; Costa, C; Ordóñez-Ugalde, A; Marcelino, H; Oliveira, CL; Loureiro, JL; Dhingra, A; Brandão, E; Cruz, VT; Timóteo, AAdvances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, b...
Cerebral and cerebellar MRI volumes in Williams syndrome
Osório, A; Soares, JM; Prieto, MF; Vasconcelos, C; Fernandes, C; Sousa, SB; Carracedo, A; Gonçalves, OF; Sampaio, AIndividuals with Williams syndrome (WS) present a set of cognitive, affective and motor symptoms that resemble those of patients with lesions to the cerebellum. Although there is some evidence for overall structural alterations in this brain region in WS, explorations on cerebellar white matter and cerebellar cortex volumes remain rather neglected. We aimed to compare absolute and relative cerebellar volumes, a...
Brain activation of the defensive and appetitive survival systems in obsessive ...
Gonçalves, OF; Soares, JM; Carvalho, S; Leite, J; Ganho, A; Fernandes-Gonçalves, A; Frank, B; Pocinho, F; Relvas, J; Carracedo, A; Sampaio, ASeveral studies have shown that basic emotions are responsible for a significant enhancement of early visual processes and increased activation in visual processing brain regions. It may be possible that the cognitive uncertainty and repeated behavioral checking evident in Obsessive Compulsive Disorder (OCD) is due to the existence of abnormalities in basic survival circuits, particularly those associated with ...
Clinal variation of the YAP+ Y-chromosome frequencies in Western Iberia
Pereira, L; Prata, MJ; Brión, M; Jobling, MA; Carracedo, A; Amorim, AThe potential of Y-chromosome biallelic marker haplotypes to infer population affiliations and structures was exploited to analyze four populations from the southwestern edge of Europe, namely north, central, and south Portugal and Galicia. Three markers subdividing the YAP+ lineage were analyzed: the YAP Alu element insertion itself and the SRY8299 and sY81 base substitutions; these respectively define three h...
Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer ...
Gusmão, L; Amorim, A; Prata, MJ; Pereira, L; Lareu, MV; Carracedo, AThe PCR-based STR system MBP-B (myelin basic protein locus B) has been reported to exhibit a high rate of mutations. Using a newly designed pair of primers we present evidence that this is due to failed amplifications caused by a polymorphism in the annealing region of the reverse primer originally designed. With the new reverse primer described here no exclusions were found (out of 59 mother/child pairs analys...