Search Results - "Vicente, Astrid M."

How personalised medicine will transform healthcare by 2030: the ICPerMed vision by Vicente, Astrid M, Ballensiefen, Wolfgang, Jönsson, Jan-Ingvar

“…This commentary presents the vision of the International Consortium for Personalised Medicine (ICPerMed) on how personalised medicine (PM) will lead to the…”
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Identifying disease genes using machine learning and gene functional similarities, assessed through Gene Ontology by Asif, Muhammad, Martiniano, Hugo F M C M, Vicente, Astrid M, Couto, Francisco M

“…Identifying disease genes from a vast amount of genetic data is one of the most challenging tasks in the post-genomic era. Also, complex diseases present…”
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A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics by Santos, João Xavier, Rasga, Célia, Marques, Ana Rita, Martiniano, Hugo, Asif, Muhammad, Vilela, Joana, Oliveira, Guiomar, Sousa, Lisete, Nunes, Ana, Vicente, Astrid M

“…Heritability estimates support the contribution of genetics and the environment to the etiology of Autism Spectrum Disorder (ASD), but a role for…”
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Protein interaction networks reveal novel autism risk genes within GWAS statistical noise by Correia, Catarina, Oliveira, Guiomar, Vicente, Astrid M

“…Genome-wide association studies (GWAS) for Autism Spectrum Disorder (ASD) thus far met limited success in the identification of common risk variants,…”
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Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning by Asif, Muhammad, Martiniano, Hugo F. M. C., Marques, Ana Rita, Santos, João Xavier, Vilela, Joana, Rasga, Celia, Oliveira, Guiomar, Couto, Francisco M., Vicente, Astrid M.

“…The complex genetic architecture of Autism Spectrum Disorder (ASD) and its heterogeneous phenotype makes molecular diagnosis and patient prognosis challenging…”
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Evidence for epistasis between SLC6a4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels by COUTINHO, Ana M, SOUSA, Ines, OLIVEIRA, Guiomar, VICENTE, Astrid M, MARTINS, Madalena, CORREIA, Catarina, MORGADINHO, Teresa, BENTO, Celeste, MARQUES, Carla, ATAIDE, Assuncao, MIGUEL, Teresa S, MOORE, Jason H

“…Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet hyperserotonemia in a proportion of patients and its…”
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Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke by Manso, Helena, Krug, Tiago, Sobral, João, Albergaria, Isabel, Gaspar, Gisela, Ferro, José M, Oliveira, Sofia A, Vicente, Astrid M

“…Multiple lines of evidence suggest that genetic factors contribute to stroke recovery. The matrix metalloproteinases -2 (MMP-2) and -9 (MMP-9) are modulators…”
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Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders by Gilling, Mette, Rasmussen, Hanne B, Calloe, Kirstine, Sequeira, Ana F, Baretto, Marta, Oliveira, Guiomar, Almeida, Joana, Lauritsen, Marlene B, Ullmann, Reinhard, Boonen, Susanne E, Brondum-Nielsen, Karen, Kalscheuer, Vera M, Tümer, Zeynep, Vicente, Astrid M, Schmitt, Nicole, Tommerup, Niels

“…Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with…”
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Hope for GWAS: relevant risk genes uncovered from GWAS statistical noise by Correia, Catarina, Diekmann, Yoan, Vicente, Astrid M, Pereira-Leal, José B

“…Hundreds of genetic variants have been associated to common diseases through genome-wide association studies (GWAS), yet there are limits to current approaches…”
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Compensatory T-cell regulation in unaffected relatives of SLE patients, and opposite IL-2/CD25-mediated effects suggested by coreferentiality modeling by Fesel, Constantin, Barreto, Marta, Ferreira, Ricardo C, Costa, Nuno, Venda, Lara L, Pereira, Clara, Carvalho, Claudia, Morães-Fontes, Maria Francisca, Ferreira, Carlos M, Vasconcelos, Carlos, Viana, João F, Santos, Eugenia, Martins, Berta, Demengeot, Jocelyne, Vicente, Astrid M

“…In human systemic lupus erythematosus (SLE), diverse autoantibodies accumulate over years before disease manifestation. Unaffected relatives of SLE patients…”
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FunVar: A systematic pipeline to unravel the convergence patterns of genetic variants in ASD, a paradigmatic complex disease by Asif, Muhammad, Vicente, Astrid M., Couto, Francisco M.

“…[Display omitted] •For functional inference of rare CNVs, FunVar includes pre and post processing of CNVs.•Putative disease-causing variants aggregate in…”
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Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients by Rosa, Alexandra, Fonseca, Benedita V, Krug, Tiago, Manso, Helena, Gouveia, Liliana, Albergaria, Isabel, Gaspar, Gisela, Correia, Manuel, Viana-Baptista, Miguel, Simões, Rita Moiron, Pinto, Amélia Nogueira, Taipa, Ricardo, Ferreira, Carla, Fontes, João Ramalho, Silva, Mário Rui, Gabriel, João Paulo, Matos, Ilda, Lopes, Gabriela, Ferro, José M, Vicente, Astrid M, Oliveira, Sofia A

“…The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this…”
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TTC7B Emerges as a Novel Risk Factor for Ischemic Stroke Through the Convergence of Several Genome-Wide Approaches by Krug, Tiago, Gabriel, João Paulo, Taipa, Ricardo, Fonseca, Benedita V, Domingues-Montanari, Sophie, Fernandez-Cadenas, Israel, Manso, Helena, Gouveia, Liliana O, Sobral, João, Albergaria, Isabel, Gaspar, Gisela, Jiménez-Conde, Jordi, Rabionet, Raquel, Ferro, José M, Montaner, Joan, Vicente, Astrid M, Silva, Mário Rui, Matos, Ilda, Lopes, Gabriela, Oliveira, Sofia A

“…We hereby propose a novel approach to the identification of ischemic stroke (IS) susceptibility genes that involves converging data from several unbiased…”
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Attitudes of the autism community to early autism research by Fletcher-Watson, Sue, Apicella, Fabio, Auyeung, Bonnie, Beranova, Stepanka, Bonnet-Brilhault, Frederique, Canal-Bedia, Ricardo, Charman, Tony, Chericoni, Natasha, Conceição, Inês C, Davies, Kim, Farroni, Teresa, Gomot, Marie, Jones, Emily, Kaale, Anett, Kapica, Katarzyna, Kawa, Rafal, Kylliäinen, Anneli, Larsen, Kenneth, Lefort-Besnard, Jeremy, Malvy, Joelle, Manso de Dios, Sara, Markovska-Simoska, Silvana, Millo, Inbal, Miranda, Natercia, Pasco, Greg, Pisula, Ewa, Raleva, Marija, Rogé, Bernadette, Salomone, Erica, Schjolberg, Synnve, Tomalski, Przemysław, Vicente, Astrid M, Yirmiya, Nurit

“…Investigation into the earliest signs of autism in infants has become a significant sub-field of autism research. This work invokes specific ethical concerns…”
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Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese by Branco, Claudia C, Pacheco, Paula R, Cabrol, Ester, Cabral, Rita, Vicente, Astrid M, Mota-Vieira, Luisa

“…Studies on linkage disequilibrium (LD) across the genome and populations have been used in recent years with the main objective of improving gene mapping of…”
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Variants within the nitric oxide synthase 1 gene are associated with stroke susceptibility by Manso, Helena, Krug, Tiago, Sobral, João, Albergaria, Isabel, Gaspar, Gisela, Ferro, José M, Oliveira, Sofia A, Vicente, Astrid M

“…Abstract Objective Animal studies have allowed important insights into the role of the nitric oxide synthase (NOS) enzymes in atherosclerosis and hypertension,…”
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Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure by Conceição, Inês C, Rama, Maria M, Oliveira, Bárbara, Café, Cátia, Almeida, Joana, Mouga, Susana, Duque, Frederico, Oliveira, Guiomar, Vicente, Astrid M

“…OBJECTIVEThe PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation…”
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Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier "SLC25A12" Gene by Correia, Catarina, Coutinho, Ana M, Diogo, Luisa, Grazina, Manuela, Marques, Carla, Miguel, Teresa, Ataide, Assuncao, Almeida, Joana, Borges, Luis, Oliveira, Catarina, Oliveira, Guiomar, Vicente, Astrid M

“…In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and…”
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Variants in the Inflammatory IL6 and MPO Genes Modulate Stroke Susceptibility Through Main Effects and Gene—Gene Interactions by Manso, Helena, Krug, Tiago, Sobral, João, Albergaria, Isabel, Gaspar, Gisela, Ferro, José M, Oliveira, Sofia A, Vicente, Astrid M

“…There is substantial evidence that inflammation within the central nervous system contributes to stroke risk and recovery. Inflammatory conditions increase…”
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Association of a genetic variant in the ALOX5AP with higher risk of ischemic stroke: a case-control, meta-analysis and functional study by Domingues-Montanari, Sophie, Fernández-Cadenas, Israel, del Rio-Espinola, Alberto, Corbeto, Natalia, Krug, Tiago, Manso, Helena, Gouveia, Liliana, Sobral, Joao, Mendioroz, Maite, Fernández-Morales, Jessica, Alvarez-Sabin, José, Ribó, Marc, Rubiera, Marta, Obach, Victor, Martí-Fàbregas, Joan, Freijo, Marimar, Serena, Joaquin, Ferro, José M, Vicente, Astrid M, Oliveira, Sofia A, Montaner, Joan

“…Variants in the 5-lipoxygenase-activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) genes have first been associated with ischemic stroke (IS) through…”
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