25 documents found, page 1 of 3
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C, et al.Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C; Loureiro, J, et al.Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C; Loureiro JL2, J, et al.5,6Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C; Loureiro, J, et al.Abstract Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have rec...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, J; Oliveira, C; Mota, C; Castro, A; Costa, C, et al.Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthe...
Loureiro, JR; Oliveira, C; Mota, C; Castro, AF; Costa, C; Loureiro, J; Coutinho, P; Martins, S; Sequeiros, J; Silveira, IDynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
Discovery of a small-molecule protein kinase Cd-selective activator with promis...
Bessa, C; Soares, J; Raimundo, L; Loureiro, J; Gomes, C; Reis, F; Soares, ML; Santos, D; Dureja, C; Chaudhuri, S; Lopez-Haber, C; Kazanietz, MProtein kinase C (PKC) isozymes play major roles in human diseases, including cancer. Yet, the poor understanding of isozymes-specific functions and the limited availability of selective pharmacological modulators of PKC isozymes have limited the clinical translation of PKC-targeting agents. Here, we report the first small-molecule PKCd-selective activator, the 7a-acetoxy-6ß-benzoyloxy-12-O-benzoylroyleanone (R...
Early peripheral endothelial dysfunction predicts myocardial infarct extension ...
Baptista, SB; Faustino, M; Brízida, L; Loureiro, J; Augusto, J; Abecasis, J; Monteiro, C; Leal, P; Nédio, M; Abreu, PF; Gil, V; Morais, CINTRODUCTION AND OBJECTIVES: The role of endothelial dysfunction (ED) in patients with ST-elevation myocardial infarction (STEMI) is poorly understood. Peripheral arterial tonometry (PAT) allows non-invasive evaluation of ED, but has never been used for this purpose early after primary percutaneous coronary intervention (P-PCI). Our purpose was to analyze the relation between ED assessed by PAT and both the pre...
Saúde para todos: especialidades: cooperação portuguesa com São Tomé e Príncipe...
Loureiro, J; Freitas, A; Antunes, CA estrutura e o trabalho desenvolvido pelo Instituto Marquês de Valle Flõr (IMVF) no campo da cooperação na área da saúde em São Tomé e Príncipe foi descrita em número anterior da Revista Clínica do Hospital Prof. Doutor Fernando Fonseca. Neste artigo, pretende-se descrever o contributo da cardiologia no âmbito do programa Saúde para Todos – Especialidades, lançado pelo IMVF em 2010.
Diffusion-weighted imaging: determination of the best pair ofb-values to discri...
Nogueira, Luisa; Brandão, S; Matos, E; Nunes, R G; Loureiro, J; Ferreira, H A; Ramos, IIn breast diffusion-weighted imaging (DWI), the apparent diffusion coefficient (ADC) is used to discriminate between malignant and benign lesions. As ADC estimates can be affected by the weighting factors, our goal was to determine the optimal pair of b-values for discriminating breast lesions at 3.0 T. METHODS: 152 females with 157 lesions (89 malignant and 68 benign) underwent breast MRI, including a DWI sequ...