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Heterogeneidade Clínica de 6 Casos com a Mutação «MELAS» A3243G do DNA Mitocond...
Vilarinho, Laura; Rodrigues, Lurdes; Coelho, Isabel; Rocha, Hugo; Pires, M. Melo; Guimarães, AntónioOs autores descrevem três casos com apresentação clínica atípica de MELAS, assim como dois membros oligossintomáticos e um assintomático das duas famílias portadores da mutação A3243G do tRNAL"(" do DNA mitocondrial. Em todos os casos, esta mutação pontual associada a doenças com hereditariedade materna, estava presente em heteroplasmia.
NR4A2 and schizophrenia: Lack of association in a Portuguese/Brazilian study
Ruano, Dina; Macedo, António; Dourado, Ana; Soares, Maria João; Valente, José; Coelho, Isabel; Santos, Vítor; Azevedo, Maria Helena; Goodman, AnnThe present study investigates the association of mutations in the nuclear receptor NR4A2 in schizophrenic patients. The human Nur-related receptor 1, NR4A2, is an orphan nuclear receptor that can be constitutively active as a transcription factor and for which no natural ligand has yet been identified. Alone or with retinoid X receptor, RXR, NR4A2 influences the expression of several genes important for human ...
Lack of association or linkage disequilibrium between schizophrenia and polymor...
Ambrósio, Alda M.; Kennedy, James L.; Macciardi, Fabio; Coelho, Isabel; Soares, Maria J.; Oliveira, Catarina R.; Pato, Carlos N.Genetic factors play a major role in the etiology of schizophrenia and disturbances of serotonergic pathways have been implicated in this disorder. The aim of the present study was to examine genetic association between schizophrenia and polymorphisms in the 5-HT1Dalpha (TaqI) and 5-HT1Dbeta (T261G and G861C) autoreceptor genes in ninety trios from Portugal. No association or linkage disequilibrium was obtained...
NR4A2 and schizophrenia : lack of association in a portuguese/brazilian study
Ruano, Dina; Macedo, António; Dourado, Ana; Soares, Maria João; Valente, José; Coelho, Isabel; Santos, Vítor; Azevedo, Maria Helena; Goodman, AnnThe present study investigates the association of mutations in the nuclear receptor NR4A2 in schizophrenic patients. The human Nur-related receptor 1, NR4A2, is an orphan nuclear receptor that can be constitutively active as a transcription factor and for which no natural ligand has yet been identified. Alone or with retinoid X receptor, RXR, NR4A2 influences the expression of several genes important for human ...
Genotypes at the APOE and SCA2 loci do not predict the course of multiple scler...
Santos, Mónica; Costa, Maria do Carmo; Rio, Maria Edite; Sá, Maria José; Monteiro, Marta; Valença, Angela; Sá, Alfredo; Dinis, José; Figueiredo, JoséProva tipográfica (In Press) ; Multiple sclerosis (MS) is a demyelinating disease that affects about one in 500 young Europeans. In order to test the previously proposed influence of the APOE and SCA2 loci on susceptibility to MS, we studied these loci in 243 Portuguese patients and 192 healthy controls and both parents of 92 patients. We did not detect any significant difference when APOE and SCA2 allele freq...
Próteses dentárias removíveis no desenvolvimento de colonização/infecção por Ca...
Coelho, Isabel Carolina BarrosA infecção da mucosa oral por Candida é comum em doentes que recebem tratamento com radioterapia para tumores da cabeça e pescoço. A dor oral e/ou sensação de queimadura são dois sintomas frequentemente referidos por estes doentes. A colocação de uma prótese removível dentária na cavidade oral pode alterar a microflora, favorecendo o aumento de determinados microorganismos como é o caso da Candida. O objectiv...
Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene...
Xu, Junzhe; Pato, Michele T.; Torre, Camille Dalla; Medeiros, Helena; Carvalho, Celia; Basile, Vincenzo S.; Bauer, Amy; Dourado, Ana; Valente, JoséRecent studies have suggested that the alpha 7-nicotinic receptor gene (CHRNA7) may play a role in the pathogenesis of schizophrenia. The alpha 7-nicotinic receptor gene (CHRNA7) is involved in P50 auditory sensory gating deficits, and the genomic locus for this gene lies in the chromosome 15q13-14 regions. The human gene is partially duplicated (exons 5-10) with four novel upstream exons. The marker D15S1360 h...
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