Encontrados 5 documentos, a visualizar página 1 de 1
Field study on the accumulation of trace elements by vegetables produced in the...
Alvarenga, Paula M.; Simões, Isabel; Palma, Patrícia; Amaral, Olga; Matos, João XavierAvailable online 15 November 2013 ; To evaluate the accumulation of trace elements (TE) by vegetables produced in the vicinity of abandoned pyrite mines, eighteen different small farms were selected near three mines from the Portuguese sector of the Iberian Pyrite Belt (São Domingos, Aljustrel and Lousal). Total and bioavailable As, Cu, Pb, and Zn concentrations were analyzed in the soils, and the same TE we...
Genética e cérebro na "fábrica de perguntas"
Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, LilianaCom esta atividade desenvolvida no âmbito da semana aberta do INSA pretendeu-se demonstrar como a Genética e o cérebro são os centros de controlo do quotidiano. Na parte prática desenvolveram-se atividades "mãos na massa" e "minds on" relacionadas com os temas.
Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blo...
Ribeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; Amaral, OlgaDR and AJD were FCT research grantees (PIC/IC/82822/2007) ; Development of a simple mutation directed method in order to allow lowering the cost of mutation testing using an easily obtainable biological material. Assessment of the feasibility of such method was tested using a GC-rich amplicon. A method of denaturing high-performance liquid chromatography (dHPLC) was improved and implemented as a technique for ...
Reversing the effect of the IDUA GENE W402X mutation?
Ribeiro, Diogo; Amaral, OlgaPresenting author: Diogo Ribeiro; Corresponding author: Olga Amaral ; Introduction: Mucopolysaccharidosis type I (MPS I; OMIM #252800) is an autosomal recessive disorder, which results from the defective activity of the lysosomal enzyme α-L-iduronidase (IDUA, EC 3.2.1.76). The gene encoding α-L-iduronidase (IDUA; OMIM #252800) maps to chromosome 4p16.3 and contains 14 exons. The W402X mutation is the most comm...
Unverricht–lundborg disease: report of a new mutation
Freitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.AJD e DR: bolseiros FCT. ; P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.
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