A partir de cette page vous pouvez :
| Retourner au premier écran avec les dernières notices... |
Résultat de la recherche
5 résultat(s) recherche sur le mot clé 'molecular-genetics'
Faire une suggestion
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly / Kim L. McBRIDE in Autism Research (3-3, June 2010)
Titre : Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly Type de document : texte imprimé Auteurs : Kim L. McBRIDE, Auteur; Elizabeth A. VARGA, Auteur; Matthew T. PASTORE, Auteur; Thomas W. PRIOR, Auteur; Kandamurugu MANICKAM, Auteur; Joan F. ATKIN, Auteur; Gail E. HERMAN, Auteur Article en page(s) : p.137-141 Langues : Anglais (eng)
in Autism Research > 3-3 (June 2010) . - p.137-141Résumé : There is a strong genetic component to autism spectrum disorders (ASD), but due to significant genetic heterogeneity, individual genetic abnormalities contribute a small percentage to the overall total. Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or mental retardation/developmental delays (MR/DD) and macrocephaly that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome. This study was performed to confirm our previous results. We reviewed the charts of individuals who had PTEN clinical sequencing performed at our institution from January 2008 to July 2009. There were 93 subjects tested from our institution during that period. PTEN mutations were found in 2/39 (5.1%) ASD patients and 2/51 (3.9%) MR/DD patients. Three additional patients without mutations had no diagnostic information. Multiple relatives of individuals with a PTEN mutation had macrocephaly, MR, or early onset cancer (breast, renal, and prostate). Of those relatives tested, all had the familial PTEN mutation. None of the affected relatives had previously been diagnosed with Cowden or Bannayan-Riley-Ruvalcaba syndrome. We noted in our previous study several adult relatives without any findings who carried a mutation. Combined with data from our previous cohort, we have found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of individuals with MR/DD, all of whom had macrocephaly. We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation. Mots-clés : genetic Cowden-syndrome molecular-genetics PTEN cancer autism developmental-delay Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://www3.interscience.wiley.com/cgi-bin/fulltext/123444482/PDFSTART [article] Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly [texte imprimé] / Kim L. McBRIDE, Auteur; Elizabeth A. VARGA, Auteur; Matthew T. PASTORE, Auteur; Thomas W. PRIOR, Auteur; Kandamurugu MANICKAM, Auteur; Joan F. ATKIN, Auteur; Gail E. HERMAN, Auteur . - p.137-141.
Langues : Anglais (eng)
in Autism Research > 3-3 (June 2010) . - p.137-141Résumé : There is a strong genetic component to autism spectrum disorders (ASD), but due to significant genetic heterogeneity, individual genetic abnormalities contribute a small percentage to the overall total. Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or mental retardation/developmental delays (MR/DD) and macrocephaly that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome. This study was performed to confirm our previous results. We reviewed the charts of individuals who had PTEN clinical sequencing performed at our institution from January 2008 to July 2009. There were 93 subjects tested from our institution during that period. PTEN mutations were found in 2/39 (5.1%) ASD patients and 2/51 (3.9%) MR/DD patients. Three additional patients without mutations had no diagnostic information. Multiple relatives of individuals with a PTEN mutation had macrocephaly, MR, or early onset cancer (breast, renal, and prostate). Of those relatives tested, all had the familial PTEN mutation. None of the affected relatives had previously been diagnosed with Cowden or Bannayan-Riley-Ruvalcaba syndrome. We noted in our previous study several adult relatives without any findings who carried a mutation. Combined with data from our previous cohort, we have found PTEN mutations in 7/99 (7.1%) of individuals with ASD and 8/100 (8.0%) of individuals with MR/DD, all of whom had macrocephaly. We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation. Mots-clés : genetic Cowden-syndrome molecular-genetics PTEN cancer autism developmental-delay Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://www3.interscience.wiley.com/cgi-bin/fulltext/123444482/PDFSTART
Titre : How neuropsychology informs our understanding of developmental disorders Type de document : texte imprimé Auteurs : Bruce F. PENNINGTON, Auteur Article en page(s) : p.72-78 Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 50-1-2 (January/February 2009) . - p.72-78Résumé : This review includes 1) an explanation of what neuropsychology is, 2) a brief history of how developmental cognitive neuroscience emerged from earlier neuropsychological approaches to understanding atypical development, 3) three recent examples that illustrate the benefits of this approach, 4) issues and challenges this approach must face, and 5) a forecast for the future of this approach. Mots-clés : Developmental-cognitive-neuroscience plasticity molecular-genetics neural-network-models dyslexia neuropsychology Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://www3.interscience.wiley.com/cgi-bin/fulltext/121498470/PDFSTART [article] How neuropsychology informs our understanding of developmental disorders [texte imprimé] / Bruce F. PENNINGTON, Auteur . - p.72-78.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 50-1-2 (January/February 2009) . - p.72-78Résumé : This review includes 1) an explanation of what neuropsychology is, 2) a brief history of how developmental cognitive neuroscience emerged from earlier neuropsychological approaches to understanding atypical development, 3) three recent examples that illustrate the benefits of this approach, 4) issues and challenges this approach must face, and 5) a forecast for the future of this approach. Mots-clés : Developmental-cognitive-neuroscience plasticity molecular-genetics neural-network-models dyslexia neuropsychology Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://www3.interscience.wiley.com/cgi-bin/fulltext/121498470/PDFSTART
Titre : Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility Type de document : texte imprimé Auteurs : Holly N. CUKIER, Auteur; David A. SKAAR, Auteur; Melissa Y. RAYNER-EVANS, Auteur; Ioanna KONIDARI, Auteur; Patrice L. WHITEHEAD, Auteur; James M. JAWORSKI, Auteur; Michael L. CUCCARO, Auteur; Margaret A. O. PERICAK-VANCE, Auteur; John R. GILBERT, Auteur Article en page(s) : p.258-266 Langues : Anglais (eng)
in Autism Research > 2-5 (October 2009) . - p.258-266Résumé : Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation. Mots-clés : molecular-genetics paracentric-inversion fluorescent-in-situ-hybridization-(FISH) genome-wide-association-study-(GWAS) Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://www3.interscience.wiley.com/cgi-bin/fulltext/122666096/PDFSTART [article] Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility [texte imprimé] / Holly N. CUKIER, Auteur; David A. SKAAR, Auteur; Melissa Y. RAYNER-EVANS, Auteur; Ioanna KONIDARI, Auteur; Patrice L. WHITEHEAD, Auteur; James M. JAWORSKI, Auteur; Michael L. CUCCARO, Auteur; Margaret A. O. PERICAK-VANCE, Auteur; John R. GILBERT, Auteur . - p.258-266.
Langues : Anglais (eng)
in Autism Research > 2-5 (October 2009) . - p.258-266Résumé : Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation. Mots-clés : molecular-genetics paracentric-inversion fluorescent-in-situ-hybridization-(FISH) genome-wide-association-study-(GWAS) Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://www3.interscience.wiley.com/cgi-bin/fulltext/122666096/PDFSTART
Titre : Molecular Approaches to Hereditary Diseases of the Nervous System: Huntington's Disease as a Paradigm Type de document : texte imprimé Auteurs : N. S. WEXLER, Auteur; E. A. ROSE, Auteur; D. E. HOUSMAN, Auteur Article en page(s) : p.503-529 Langues : Anglais (eng)
in Annual Review of Neuroscience > 14 (1991) . - p.503-529Mots-clés : Neurodegenerative disorders - Molecular genetics - Disease genes - Basal ganglia Plan de Classement : PER Périodiques [article] Molecular Approaches to Hereditary Diseases of the Nervous System: Huntington's Disease as a Paradigm [texte imprimé] / N. S. WEXLER, Auteur; E. A. ROSE, Auteur; D. E. HOUSMAN, Auteur . - p.503-529.
Langues : Anglais (eng)
in Annual Review of Neuroscience > 14 (1991) . - p.503-529Mots-clés : Neurodegenerative disorders - Molecular genetics - Disease genes - Basal ganglia Plan de Classement : PER Périodiques
Titre : RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder Type de document : texte imprimé Auteurs : Hsien-Sung HUANG, Auteur; Schahram AKBARIAN, Auteur; Iris CHEUNG, Auteur Article en page(s) : p.153-161 Langues : Anglais (eng)
in Autism Research > 3-4 (August 2010) . - p.153-161Résumé : Dysfunction of cerebral cortex in autism is thought to involve alterations in inhibitory neurotransmission. Here, we screened, in prefrontal cortex (PFC) of 15 subjects diagnosed with autism and 15 matched controls the expression of 44 transcripts that are either preferentially expressed in gamma-aminobutyric acidergic interneurons of the mature cortex or important for the development of inhibitory circuitry. Significant alterations in the autism cohort included decreased expression (−45%) of RPP25 (15q24.1), which is located within the autism susceptibility locus, 15q22-26. RPP25, which encodes the 25 kDa subunit of ribonuclease P involved in tRNA and pre-ribosomal RNA processing, was developmentally regulated in cerebral cortex with peak levels of expression during late fetal development (human) or around birth (mouse). In the PFC, RPP25 chromatin showed high levels of histone H3-lysine 4 trimethylation, an epigenetic mark associated with transcriptional regulation. Unexpectedly, and in contrast to peripheral tissues, levels of RPP25 protein remained undetectable in fetal and adult cerebral cortex. Taken together, these findings suggest a potential role for the RPP25 gene transcript in the neurobiology of developmental brain disorders. Mots-clés : developmental-neurobiology molecular-genetics GABA Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://onlinelibrary.wiley.com/doi/10.1002/aur.141/pdf [article] RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder [texte imprimé] / Hsien-Sung HUANG, Auteur; Schahram AKBARIAN, Auteur; Iris CHEUNG, Auteur . - p.153-161.
Langues : Anglais (eng)
in Autism Research > 3-4 (August 2010) . - p.153-161Résumé : Dysfunction of cerebral cortex in autism is thought to involve alterations in inhibitory neurotransmission. Here, we screened, in prefrontal cortex (PFC) of 15 subjects diagnosed with autism and 15 matched controls the expression of 44 transcripts that are either preferentially expressed in gamma-aminobutyric acidergic interneurons of the mature cortex or important for the development of inhibitory circuitry. Significant alterations in the autism cohort included decreased expression (−45%) of RPP25 (15q24.1), which is located within the autism susceptibility locus, 15q22-26. RPP25, which encodes the 25 kDa subunit of ribonuclease P involved in tRNA and pre-ribosomal RNA processing, was developmentally regulated in cerebral cortex with peak levels of expression during late fetal development (human) or around birth (mouse). In the PFC, RPP25 chromatin showed high levels of histone H3-lysine 4 trimethylation, an epigenetic mark associated with transcriptional regulation. Unexpectedly, and in contrast to peripheral tissues, levels of RPP25 protein remained undetectable in fetal and adult cerebral cortex. Taken together, these findings suggest a potential role for the RPP25 gene transcript in the neurobiology of developmental brain disorders. Mots-clés : developmental-neurobiology molecular-genetics GABA Plan de Classement : PER Périodiques En ligne depuis le poste de consultation du CID : http://onlinelibrary.wiley.com/doi/10.1002/aur.141/pdf
 |  | page 1/1 |  |  |
