Developing a Deeper Understanding of Autism: Connecting Knowledge through Literature Mining / Marta MACEDONI-LUKSIC in Autism Research and Treatment, (April 2011)  

Public ISBD [article]  inAutism Research and Treatment > (April 2011) . - 8 p. Titre : Developing a Deeper Understanding of Autism: Connecting Knowledge through Literature Mining Type de document : texte imprimé Auteurs : Marta MACEDONI-LUKSIC, Auteur ; Ingrid PETRIC, Auteur ; Bojan CESTNIK, Auteur ; Tanja URBANCIC, Auteur Année de publication : 2011 Article en page(s) : 8 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In the field of autism, an enormous increase in available information makes it very difficult to connect fragments of knowledge into a more coherent picture. We present a literature mining method, RaJoLink, to search for matched themes in unrelated literature that may contribute to a better understanding of complex pathological conditions, such as autism. 214 full text articles on autism, published in PubMed, served as a source of data. Using ontology construction, we identified the main concepts of what is already known about autism. Then, the RaJoLink method, based on Swanson's ABC model, was used to reveal potentially interesting, but not yet investigated, connections between different concepts in research. Among the more interesting concepts identified with RaJoLink in our study were calcineurin and NF-kappaB. Both terms can be linked to neuro-immune abnormalities in the brain of patients with autism. Further research is needed to provide stronger evidence about calcineurin and NF-kappaB involvement in autism. However, the analysis presented confirms that this method could support experts on their way towards discovering hidden relationships and towards a better understanding of the disorder. En ligne : http://dx.doi.org/10.1155/2011/307152 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=131 [article] Developing a Deeper Understanding of Autism: Connecting Knowledge through Literature Mining [texte imprimé] / Marta MACEDONI-LUKSIC, Auteur ; Ingrid PETRIC, Auteur ; Bojan CESTNIK, Auteur ; Tanja URBANCIC, Auteur . - 2011 . - 8 p. Langues : Anglais (eng) in Autism Research and Treatment > (April 2011) . - 8 p. Index. décimale : PER Périodiques Résumé : In the field of autism, an enormous increase in available information makes it very difficult to connect fragments of knowledge into a more coherent picture. We present a literature mining method, RaJoLink, to search for matched themes in unrelated literature that may contribute to a better understanding of complex pathological conditions, such as autism. 214 full text articles on autism, published in PubMed, served as a source of data. Using ontology construction, we identified the main concepts of what is already known about autism. Then, the RaJoLink method, based on Swanson's ABC model, was used to reveal potentially interesting, but not yet investigated, connections between different concepts in research. Among the more interesting concepts identified with RaJoLink in our study were calcineurin and NF-kappaB. Both terms can be linked to neuro-immune abnormalities in the brain of patients with autism. Further research is needed to provide stronger evidence about calcineurin and NF-kappaB involvement in autism. However, the analysis presented confirms that this method could support experts on their way towards discovering hidden relationships and towards a better understanding of the disorder. En ligne : http://dx.doi.org/10.1155/2011/307152 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=131

Imitation in fragile X syndrome: Implications for autism / Marta MACEDONI-LUKSIC in Autism, 13-6 (November 2009)  

Public ISBD [article]  inAutism > 13-6 (November 2009) . - p.599-611 Titre : Imitation in fragile X syndrome: Implications for autism Type de document : texte imprimé Auteurs : Marta MACEDONI-LUKSIC, Auteur ; Randi J. HAGERMAN, Auteur ; Laura GREISS-HESS, Auteur ; David GOSAR, Auteur ; Kerrie LEMONS-CHITWOOD, Auteur ; Sally J. ROGERS, Auteur Année de publication : 2009 Article en page(s) : p.599-611 Langues : Anglais (eng) Mots-clés : autism fragile-X-syndrome imitation Index. décimale : PER Périodiques Résumé : To address the specific impairment of imitation in autism, the imitation abilities of 22 children with fragile X syndrome (FXS) with and without autism were compared. Based on previous research, we predicted that children with FXS and autism would have significantly more difficulty with non-meaningful imitation tasks. After controlling for full-scale IQ and age, the groups did not differ in their overall imitation accuracy scores, but analysis of error patterns revealed that children with FXS and autism made more groping errors and additional movements than the comparison group. These error patterns are consistent with the hypothesis that an action production system deficit plays an important role in the overall imitation deficit in autism, at least in children with FXS. En ligne : http://dx.doi.org/10.1177/1362361309337850 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=924 [article] Imitation in fragile X syndrome: Implications for autism [texte imprimé] / Marta MACEDONI-LUKSIC, Auteur ; Randi J. HAGERMAN, Auteur ; Laura GREISS-HESS, Auteur ; David GOSAR, Auteur ; Kerrie LEMONS-CHITWOOD, Auteur ; Sally J. ROGERS, Auteur . - 2009 . - p.599-611. Langues : Anglais (eng) in Autism > 13-6 (November 2009) . - p.599-611 Mots-clés : autism fragile-X-syndrome imitation Index. décimale : PER Périodiques Résumé : To address the specific impairment of imitation in autism, the imitation abilities of 22 children with fragile X syndrome (FXS) with and without autism were compared. Based on previous research, we predicted that children with FXS and autism would have significantly more difficulty with non-meaningful imitation tasks. After controlling for full-scale IQ and age, the groups did not differ in their overall imitation accuracy scores, but analysis of error patterns revealed that children with FXS and autism made more groping errors and additional movements than the comparison group. These error patterns are consistent with the hypothesis that an action production system deficit plays an important role in the overall imitation deficit in autism, at least in children with FXS. En ligne : http://dx.doi.org/10.1177/1362361309337850 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=924

Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder / Jernej KOVAC in Autism Research, 7-1 (February 2014)  

Public ISBD [article]  inAutism Research > 7-1 (February 2014) . - p.138-144 Titre : Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Jernej KOVAC, Auteur ; Marta MACEDONI-LUKSIC, Auteur ; Katarina TREBUSAK PODKRAJÅ EK, Auteur ; GaÅ¡per KLANCAR, Auteur ; Tadej BATTELINO, Auteur Article en page(s) : p.138-144 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  superoxide dismutase  genetic variants  oxidative stress  ROS Index. décimale : PER Périodiques Résumé : Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population ∼5%. The SNP c.239 + 34AC (rs2234694) and SNP g.3341CG (rs36233090) were detected with an odds ratio of 2.65 and P  0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. En ligne : http://dx.doi.org/10.1002/aur.1345 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder [texte imprimé] / Jernej KOVAC, Auteur ; Marta MACEDONI-LUKSIC, Auteur ; Katarina TREBUSAK PODKRAJÅ EK, Auteur ; GaÅ¡per KLANCAR, Auteur ; Tadej BATTELINO, Auteur . - p.138-144. Langues : Anglais (eng) in Autism Research > 7-1 (February 2014) . - p.138-144 Mots-clés : autism spectrum disorder  superoxide dismutase  genetic variants  oxidative stress  ROS Index. décimale : PER Périodiques Résumé : Oxidative stress is suspected to be one of the several contributing factors in the etiology of autism spectrum disorder (ASD). We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD. Using the optimized high-resolution melting (HRM) analysis, we identified two rare single nucleotide polymorphisms (SNPs) associated with the etiology of ASD. Both are located in the superoxide dismutase 1 (SOD1) gene and have a minor allele frequency in healthy population ∼5%. The SNP c.239 + 34AC (rs2234694) and SNP g.3341CG (rs36233090) were detected with an odds ratio of 2.65 and P  0.01. Both are located in the noncoding potentially regulatory regions of the SOD1 gene. This adds to the importance of rare SNPs in the etiology of complex diseases as well as to the importance of noncoding genetic variants analysis with a potential influence on the regulation of gene expression. En ligne : http://dx.doi.org/10.1002/aur.1345 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

---

1 (1 - 3 / 3) Par page : 25 50 100 200