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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, C.T.; Conceição, I.C.; Oliveira, B.; Coelho, J.; Sousa, I.; Sequeira, A.F.; Almeida, J.; Café, C.; Duque, F; Mouga, S.; Roberts, W.; Gao, K.Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.
Assessment of the Geographic Origins of Pinewood Nematode Isolates via Single N...
Figueiredo, Joana; Simões, Maria José; Gomes, Paula; Barroso, Cristina; Pinho, Diogo; da Conceição, I. L. P. M.; Fonseca, Luís; Abrantes, I. M. O.The pinewood nematode, Bursaphelenchus xylophilus, is native to North America but it only causes damaging pine wilt disease in those regions of the world where it has been introduced. The accurate detection of the species and its dispersal routes are thus essential to define effective control measures. The main goals of this study were to analyse the genetic diversity among B. xylophilus isolates from different...
Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Eti...
Oliveira, B.A.; Correia, C.A.; Conceição, I.C.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes...
Long-term effects of tafamidis for the treatment of transthyretin familial amyl...
Coelho, T.; Maia, L.; Martins-Silva, A.; Cruz, M.; Planté-Bordeneuve, V.; Suhr, O.; Conceição, I.; Schmidt, H.; Trigo, P.; Kelly, J.; Labaudinière, R.Tafamidis, a transthyretin (TTR) kinetic stabilizer, delayed neuropathic progression in patients with Val30Met TTR familial amyloid polyneuropathy (TTR-FAP) in an 18-month randomized controlled trial (study Fx-005). This 12-month, open-label extension study evaluated the long-term safety, tolerability, and efficacy of tafamidis 20 mg once daily in 86 patients who earlier received blinded treatment with tafamidi...
Copy number variants involving components of the glutamatergic synaptic pathway...
Oliveira, B.A.; Conceição, I.C.; Correia, C.A.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.This work was supported by the fellowships SFRH/BD/79081/2011 to BO, SFRH/BPD/74739/2010 to ICC and SFRH/BPD/64281/2009 to CC from Fundação para a Ciência e a Tecnologia (FCT; Portugal). ; Copy Number Variants (CNVs) play an important role in susceptibility to Autism Spectrum Disorders (ASD), in particular when deleting or duplicating genes involved in synaptic structure and function such as glutamatergic syna...
Occurrence of the root-knot nematode Meloidogyne arenaria on balm and in a mix...
Karanastasi, E.; Conceição, I. da; Santos, M. dos; Tzortzakakis, E.; Abrantes, I. de O.Summary The root-knot nematode Meloidogyne arenaria was found in Greece infecting balm (Melissa officinalis L.) and grapevine (Vitis vinifera L.). The isolate from balm was M. arenaria while the one from grapevine was a mixture of M. arenaria and M. javanica (prevalent species). This is the first report of the M. arenaria species in the country in which identification was based on biochemical methods and its o...
The evolution of a conjugative plasmid and its ability to increase bacterial fi...
Dionisio, F.; Conceição, I.C.; Marques, A.C.R.; Fernandes, L.; Gordo, I.Conjugative plasmids are extra-chromosomal DNA elements that are capable of horizontal transmission and are found in many natural isolated bacteria. Although plasmids may carry beneficial genes to their bacterial host, they may also cause a fitness cost. In this work, we studied the evolution of the R1 plasmid and we found that, in spite of the R1 plasmid conferring an initial cost to its host, after 420 genera...
Hepatitis C virus infection in a Brazilian population with sickle-cell anemia
Torres,M.C.M.R.; Pereira,L.M.M.B.; Ximenes,R.A.A.; Araújo,A.S.; Secaf,M.; Rodrigues,S.S.; Bezerra,A.C.S.; Conceição,I.B.; Valença,M.I.B.Patients with sickle-cell anemia submitted to frequent blood transfusions are at risk of contamination with hepatitis C virus (HCV). Determination of HCV RNA and genotype characterization are parameters that are relevant for the treatment of the viral infection. The objective of the present study was to determine the frequency of HCV infection and the positivity for HCV RNA and to identify the HCV genotype in p...
Familial amyloidotic polyneuropathy --Portuguese type-- clinical and neurophysi...
Conceição, I; Serviço de Neurologia, Centro de Estudos Egas Moniz, Hospital de Santa Maria, Lisboa.; Carvalho, M; Alves, M; Luís, M LSixteen (16) patients with Familial Amyloidotic Polyneuropathy-Portuguese Type (FAP) were evaluated longitudinally, using the EMG and Clinical protocols with the aim of establishing the clinical and neurophysiological evolution rate of FAP. We conclude that spontaneous evolution of FAP patients shows a linear progression. Clinical and neurophysiological evolution times are parallel, with the EMG scores being hi...
Carbon monoxide poisoning.
Conceição, I; Serviço de Neurologia, Centro de Estudos Egas Moniz, H. Sta. Maria, Lisboa.; de Mendonça, A; Alves, M; Fernandes, A; Coelho, HThe authors present a case of acute carbon monoxide (CO) poisoning, with associated cerebral, spinal and peripheral nerve lesions. The spinal lesion observed in our patient is a rare condition and, the association between cerebral ischemic lesions and spinal and peripheral nerve lesions has not been previously described. In this case the spinal cord lesion is of hemorrhagic type as shown by MRI. The authors dis...
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