Dépouillements

Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder / Simon TRENT in Molecular Autism, (March 2014)  

Public ISBD [article]  inMolecular Autism > (March 2014) . - p.1-11 Titre : Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder Type de document : Texte imprimé et/ou numérique Auteurs : Simon TRENT, Auteur ; Jonathan P. FRY, Auteur ; Obah A. OJARIKRE, Auteur ; William DAVIES, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The 39,XY*O mouse, which lacks the orthologues of the ADHD and autism candidate genes STS (steroid sulphatase) and ASMT (acetylserotonin O-methyltransferase), exhibits behavioural phenotypes relevant to developmental disorders. The neurobiology underlying these phenotypes is unclear, although there is evidence for serotonergic abnormalities in the striatum and hippocampus. En ligne : http://dx.doi.org/10.1186/2040-2392-5-21 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Altered brain gene expression but not steroid biochemistry in a genetic mouse model of neurodevelopmental disorder [Texte imprimé et/ou numérique] / Simon TRENT, Auteur ; Jonathan P. FRY, Auteur ; Obah A. OJARIKRE, Auteur ; William DAVIES, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (March 2014) . - p.1-11 Index. décimale : PER Périodiques Résumé : The 39,XY*O mouse, which lacks the orthologues of the ADHD and autism candidate genes STS (steroid sulphatase) and ASMT (acetylserotonin O-methyltransferase), exhibits behavioural phenotypes relevant to developmental disorders. The neurobiology underlying these phenotypes is unclear, although there is evidence for serotonergic abnormalities in the striatum and hippocampus. En ligne : http://dx.doi.org/10.1186/2040-2392-5-21 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics / Li LIU in Molecular Autism, (March 2014)  

Public ISBD [article]  inMolecular Autism > (March 2014) . - p.1-18 Titre : DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics Type de document : Texte imprimé et/ou numérique Auteurs : Li LIU, Auteur ; Jing LEI, Auteur ; Stephan J. SANDERS, Auteur ; Arthur Jeremy WILLSEY, Auteur ; Yan KOU, Auteur ; Abdullah Ercument CICEK, Auteur ; Lambertus KLEI, Auteur ; Cong LU, Auteur ; Xin HE, Auteur ; Mingfeng LI, Auteur ; Rebecca A. MUHLE, Auteur ; Avi MA’AYAN, Auteur ; James P. NOONAN, Auteur ; Nenad ŠESTAN, Auteur ; Kathryn A. MCFADDEN, Auteur ; Matthew W. STATE, Auteur ; Joseph D. BUXBAUM, Auteur ; Bernie DEVLIN, Auteur ; Kathryn ROEDER, Auteur Article en page(s) : p.1-18 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : De novo loss-of-function (dnLoF) mutations are found twofold more often in autism spectrum disorder (ASD) probands than their unaffected siblings. Multiple independent dnLoF mutations in the same gene implicate the gene in risk and hence provide a systematic, albeit arduous, path forward for ASD genetics. It is likely that using additional non-genetic data will enhance the ability to identify ASD genes. En ligne : http://dx.doi.org/10.1186/2040-2392-5-22 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics [Texte imprimé et/ou numérique] / Li LIU, Auteur ; Jing LEI, Auteur ; Stephan J. SANDERS, Auteur ; Arthur Jeremy WILLSEY, Auteur ; Yan KOU, Auteur ; Abdullah Ercument CICEK, Auteur ; Lambertus KLEI, Auteur ; Cong LU, Auteur ; Xin HE, Auteur ; Mingfeng LI, Auteur ; Rebecca A. MUHLE, Auteur ; Avi MA’AYAN, Auteur ; James P. NOONAN, Auteur ; Nenad ŠESTAN, Auteur ; Kathryn A. MCFADDEN, Auteur ; Matthew W. STATE, Auteur ; Joseph D. BUXBAUM, Auteur ; Bernie DEVLIN, Auteur ; Kathryn ROEDER, Auteur . - p.1-18. Langues : Anglais (eng) in Molecular Autism > (March 2014) . - p.1-18 Index. décimale : PER Périodiques Résumé : De novo loss-of-function (dnLoF) mutations are found twofold more often in autism spectrum disorder (ASD) probands than their unaffected siblings. Multiple independent dnLoF mutations in the same gene implicate the gene in risk and hence provide a systematic, albeit arduous, path forward for ASD genetics. It is likely that using additional non-genetic data will enhance the ability to identify ASD genes. En ligne : http://dx.doi.org/10.1186/2040-2392-5-22 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Hyperreactivity to weak acoustic stimuli and prolonged acoustic startle latency in children with autism spectrum disorders / Hidetoshi TAKAHASHI in Molecular Autism, (March 2014)  

Public ISBD [article]  inMolecular Autism > (March 2014) . - p.1-8 Titre : Hyperreactivity to weak acoustic stimuli and prolonged acoustic startle latency in children with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Hidetoshi TAKAHASHI, Auteur ; Takayuki NAKAHACHI, Auteur ; Sahoko KOMATSU, Auteur ; Kazuo OGINO, Auteur ; Yukako IIDA, Auteur ; Yoko KAMIO, Auteur Article en page(s) : p.1-8 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : People with autism spectrum disorders (ASD) are known to have enhanced auditory perception, however, acoustic startle response to weak stimuli has not been well documented in this population. The objectives of this study are to evaluate the basic profile of acoustic startle response, including peak startle latency and startle magnitude to weaker stimuli, in children with ASD and typical development (TD), and to evaluate their relationship to ASD characteristics. En ligne : http://dx.doi.org/10.1186/2040-2392-5-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Hyperreactivity to weak acoustic stimuli and prolonged acoustic startle latency in children with autism spectrum disorders [Texte imprimé et/ou numérique] / Hidetoshi TAKAHASHI, Auteur ; Takayuki NAKAHACHI, Auteur ; Sahoko KOMATSU, Auteur ; Kazuo OGINO, Auteur ; Yukako IIDA, Auteur ; Yoko KAMIO, Auteur . - p.1-8. Langues : Anglais (eng) in Molecular Autism > (March 2014) . - p.1-8 Index. décimale : PER Périodiques Résumé : People with autism spectrum disorders (ASD) are known to have enhanced auditory perception, however, acoustic startle response to weak stimuli has not been well documented in this population. The objectives of this study are to evaluate the basic profile of acoustic startle response, including peak startle latency and startle magnitude to weaker stimuli, in children with ASD and typical development (TD), and to evaluate their relationship to ASD characteristics. En ligne : http://dx.doi.org/10.1186/2040-2392-5-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Transcriptomic changes in the frontal cortex associated with paternal age / Rebecca G. SMITH in Molecular Autism, (March 2014)  

Public ISBD [article]  inMolecular Autism > (March 2014) . - p.1-7 Titre : Transcriptomic changes in the frontal cortex associated with paternal age Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca G. SMITH, Auteur ; Cathy FERNANDES, Auteur ; Rachel KEMBER, Auteur ; Leonard C. SCHALKWYK, Auteur ; Joseph D. BUXBAUM, Auteur ; Abraham REICHENBERG, Auteur ; Jonathan MILL, Auteur Article en page(s) : p.1-7 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Advanced paternal age is robustly associated with several human neuropsychiatric disorders, particularly autism. The precise mechanism(s) mediating the paternal age effect are not known, but they are thought to involve the accumulation of de novo (epi)genomic alterations. In this study we investigate differences in the frontal cortex transcriptome in a mouse model of advanced paternal age. En ligne : http://dx.doi.org/10.1186/2040-2392-5-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Transcriptomic changes in the frontal cortex associated with paternal age [Texte imprimé et/ou numérique] / Rebecca G. SMITH, Auteur ; Cathy FERNANDES, Auteur ; Rachel KEMBER, Auteur ; Leonard C. SCHALKWYK, Auteur ; Joseph D. BUXBAUM, Auteur ; Abraham REICHENBERG, Auteur ; Jonathan MILL, Auteur . - p.1-7. Langues : Anglais (eng) in Molecular Autism > (March 2014) . - p.1-7 Index. décimale : PER Périodiques Résumé : Advanced paternal age is robustly associated with several human neuropsychiatric disorders, particularly autism. The precise mechanism(s) mediating the paternal age effect are not known, but they are thought to involve the accumulation of de novo (epi)genomic alterations. In this study we investigate differences in the frontal cortex transcriptome in a mouse model of advanced paternal age. En ligne : http://dx.doi.org/10.1186/2040-2392-5-24 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome / Jaroslava DURDIAKOVA in Molecular Autism, (March 2014)  

Public ISBD [article]  inMolecular Autism > (March 2014) . - p.1-5 Titre : Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Article en page(s) : p.1-5 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. En ligne : http://dx.doi.org/10.1186/2040-2392-5-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome [Texte imprimé et/ou numérique] / Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-5. Langues : Anglais (eng) in Molecular Autism > (March 2014) . - p.1-5 Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. En ligne : http://dx.doi.org/10.1186/2040-2392-5-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276