856 recherche sur le mot-clé 'developmental-neurobiology'

RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder / Hsien-Sung HUANG in Autism Research, 3-4 (August 2010)  

Public ISBD [article]  inAutism Research > 3-4 (August 2010) . - p.153-161 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 ; Iris CHEUNG, Auteur ; Schahram AKBARIAN, Auteur Année de publication : 2010 Article en page(s) : p.153-161 Langues : Anglais (eng) Mots-clés : developmental-neurobiology molecular-genetics GABA Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.141 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=109 [article] RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder [texte imprimé] / Hsien-Sung HUANG, Auteur ; Iris CHEUNG, Auteur ; Schahram AKBARIAN, Auteur . - 2010 . - p.153-161. Langues : Anglais (eng) in Autism Research > 3-4 (August 2010) . - p.153-161 Mots-clés : developmental-neurobiology molecular-genetics GABA Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.141 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=109

Male Gender Bias in Autism and Pediatric Autoimmunity / Kevin G. BECKER in Autism Research, 5-2 (April 2012)  

Public ISBD [article]  inAutism Research > 5-2 (April 2012) . - p.77-83 Titre : Male Gender Bias in Autism and Pediatric Autoimmunity Type de document : texte imprimé Auteurs : Kevin G. BECKER, Auteur Année de publication : 2012 Article en page(s) : p.77-83 Langues : Anglais (eng) Mots-clés : autoimmune  immunology  molecular genetics  pediatrics  developmental neurobiology Index. décimale : PER Périodiques Résumé : Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. En ligne : http://dx.doi.org/10.1002/aur.1227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 [article] Male Gender Bias in Autism and Pediatric Autoimmunity [texte imprimé] / Kevin G. BECKER, Auteur . - 2012 . - p.77-83. Langues : Anglais (eng) in Autism Research > 5-2 (April 2012) . - p.77-83 Mots-clés : autoimmune  immunology  molecular genetics  pediatrics  developmental neurobiology Index. décimale : PER Périodiques Résumé : Male bias in both autism and pediatric autoimmune disease is thought to involve hormonal perturbations in pregnancy or early childhood in the context of genetic control. These early molecular events, at a time of rapid development, are intimately linked to concurrent development in the brain and immune system. It is suggested here that these early regulatory events may overlap between autism and autoimmunity in determining male sex bias and may provide evidence of an etiological link among autism, immune dysregulation, and autoimmune disease. En ligne : http://dx.doi.org/10.1002/aur.1227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155

Male predominance in autism: neuroendocrine influences on arousal and social anxiety / Donald W. PFAFF in Autism Research, 4-3 (June 2011)  

Public ISBD [article]  inAutism Research > 4-3 (June 2011) . - p.163-176 Titre : Male predominance in autism: neuroendocrine influences on arousal and social anxiety Type de document : texte imprimé Auteurs : Donald W. PFAFF, Auteur ; Isabelle RAPIN, Auteur ; Sylvie GOLDMAN, Auteur Année de publication : 2011 Article en page(s) : p.163-176 Langues : Anglais (eng) Mots-clés : behavioral analysis of animal models  developmental neurobiology  sex differences  testosterone  androgen receptor Index. décimale : PER Périodiques Résumé : We offer a neurobiologic theory based on animal work that helps account for the conspicuous male predominance in autism spectrum disorders (ASD). In young male animals, testosterone (TST) binds to androgen receptors (AR) in brainstem neurons responsible for enhancing brain arousal. As a consequence, arousal-related neurotransmitters bombard the amygdala hypersensitized by TST acting though AR. Arousal-related inputs are known to prime amygdaloid mechanisms for fear and anxiety, with resultant social avoidance. We hypothesize that similar mechanisms contribute to autism's male predominance and to its defining impaired social skills. The theory rests on two key interacting factors: the molecular effects of TST in genetically vulnerable boys in combination with environmental stresses they experienced in utero, neonatally, or during the first years. We postulate that higher TST levels and, therefore, higher amounts of arousal-related inputs to the amygdala sensitize these genetically vulnerable male infants to very early stresses. In sharp contrast to boys, girls not only do not have high levels of TST-facilitated arousal-causing inputs to the amygdala but they also enjoy the protection afforded by estrogenic hormones, oxytocin, and the oxytocin receptor. This theory suggests that novel technologies applied to the molecular endocrinology of TST's actions through AR will offer new avenues of enquiry into ASD. Since the high male preponderance in autism is important yet understudied, we offer our theory, which is based on detailed neurobehavioral research with animals, to stimulate basic and clinical research in animals and humans and hopefully help develop novel more effective medical treatments for autism. En ligne : http://dx.doi.org/10.1002/aur.191 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127 [article] Male predominance in autism: neuroendocrine influences on arousal and social anxiety [texte imprimé] / Donald W. PFAFF, Auteur ; Isabelle RAPIN, Auteur ; Sylvie GOLDMAN, Auteur . - 2011 . - p.163-176. Langues : Anglais (eng) in Autism Research > 4-3 (June 2011) . - p.163-176 Mots-clés : behavioral analysis of animal models  developmental neurobiology  sex differences  testosterone  androgen receptor Index. décimale : PER Périodiques Résumé : We offer a neurobiologic theory based on animal work that helps account for the conspicuous male predominance in autism spectrum disorders (ASD). In young male animals, testosterone (TST) binds to androgen receptors (AR) in brainstem neurons responsible for enhancing brain arousal. As a consequence, arousal-related neurotransmitters bombard the amygdala hypersensitized by TST acting though AR. Arousal-related inputs are known to prime amygdaloid mechanisms for fear and anxiety, with resultant social avoidance. We hypothesize that similar mechanisms contribute to autism's male predominance and to its defining impaired social skills. The theory rests on two key interacting factors: the molecular effects of TST in genetically vulnerable boys in combination with environmental stresses they experienced in utero, neonatally, or during the first years. We postulate that higher TST levels and, therefore, higher amounts of arousal-related inputs to the amygdala sensitize these genetically vulnerable male infants to very early stresses. In sharp contrast to boys, girls not only do not have high levels of TST-facilitated arousal-causing inputs to the amygdala but they also enjoy the protection afforded by estrogenic hormones, oxytocin, and the oxytocin receptor. This theory suggests that novel technologies applied to the molecular endocrinology of TST's actions through AR will offer new avenues of enquiry into ASD. Since the high male preponderance in autism is important yet understudied, we offer our theory, which is based on detailed neurobehavioral research with animals, to stimulate basic and clinical research in animals and humans and hopefully help develop novel more effective medical treatments for autism. En ligne : http://dx.doi.org/10.1002/aur.191 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=127

No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set / Kristina ALLEN-BRADY in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.293-296 Titre : No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set Type de document : texte imprimé Auteurs : Kristina ALLEN-BRADY, Auteur ; Guiqing CAI, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2011 Article en page(s) : p.293-296 Langues : Anglais (eng) Mots-clés : behavioral analysis of animal models  developmental neurobiology  sex differences  testosterone  androgen receptor Index. décimale : PER Périodiques Résumé : Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. En ligne : http://dx.doi.org/10.1002/aur.195 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 [article] No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set [texte imprimé] / Kristina ALLEN-BRADY, Auteur ; Guiqing CAI, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Joseph D. BUXBAUM, Auteur . - 2011 . - p.293-296. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.293-296 Mots-clés : behavioral analysis of animal models  developmental neurobiology  sex differences  testosterone  androgen receptor Index. décimale : PER Périodiques Résumé : Finding predisposition genes for Autism Spectrum Disorder (ASD) has proven challenging, and new methods are needed to aid the process. Using pedigree structure as a strategy to identify ASD predisposition genes, we previously performed a genome-wide linkage scan of 86 selected families from the Autism Resource Exchange (AGRE) that appeared to inherit ASD in a dominant manner. We identified a suggestive linkage peak on chromosome Xp22.11-p21.2 that encompasses the IL1RAPL1 gene, a strong candidate gene for ASD. In this follow-up study, we sequenced the coding regions of the IL1RAPL1 gene in 14 male cases representing one case from each pedigree that showed at least nominal linkage evidence on per pedigree basis to the chromosome X region. We observed no deleterious mutations or deletions in the IL1RAPL1 gene in these 14 ASD cases. A SNP was identified in exon 2 in five cases and a variant of unknown significance was identified in intron 6 in a single case. In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. En ligne : http://dx.doi.org/10.1002/aur.195 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141

The autism risk genes MET and PLAUR differentially impact cortical development / Kathie L. EAGLESON in Autism Research, 4-1 (February 2011)  

Public ISBD [article]  inAutism Research > 4-1 (February 2011) . - p.68-83 Titre : The autism risk genes MET and PLAUR differentially impact cortical development Type de document : texte imprimé Auteurs : Kathie L. EAGLESON, Auteur ; Daniel B. CAMPBELL, Auteur ; Barbara L. THOMPSON, Auteur ; Mica Y. BERGMAN, Auteur ; Pat LEVITT, Auteur Année de publication : 2011 Article en page(s) : p.68-83 Langues : Anglais (eng) Mots-clés : animal models  developmental neurobiology  neuroanatomy Index. décimale : PER Périodiques Résumé : Candidate risk genes for autism spectrum disorder (ASD) have been identified, but the challenge of determining their contribution to pathogenesis remains. We previously identified two ASD risk genes encoding the receptor tyrosine kinase MET and the urokinase plasminogen activator receptor (PLAUR), which is thought to modulate availability of the MET ligand. We also reported a role for Met signaling in cortical interneuron development in vitro and a reduction of these neurons in uPAR (mouse ortholog of PLAUR) null mice, suggesting that disruption of either gene impacts cortical development similarly. Here, we modify this conclusion, reporting that interneuron numbers are unchanged in the neocortex of Metfx/fx/ Dlx5/6cre mice, in which Met is ablated from cells arising from the ventral telencephalon (VTel). Consistent with this, Met transcript is not detected in the VTel during interneuron genesis and migration; furthermore, during the postnatal period of interneuron maturation, Met is co-expressed in glutamatergic projection neurons, but not interneurons. Low levels of Met protein are expressed in the VTel at E12.5 and E14.5, likely reflecting the arrival of Met containing corticofugal axons. Met expression, however, is induced in E12.5 VTel cells after 2 days in vitro, perhaps underlying discrepancies between observations in vitro and in Metfx/fx/ Dlx5/6cre mice. We suggest that, in vivo, Met impacts the development of cortical projection neurons, whereas uPAR influences interneuron maturation. An altered balance between excitation and inhibition has been postulated as a biological mechanism for ASD; this imbalance could arise from different risk genes differentially affecting either or both elements. En ligne : http://dx.doi.org/10.1002/aur.172 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 [article] The autism risk genes MET and PLAUR differentially impact cortical development [texte imprimé] / Kathie L. EAGLESON, Auteur ; Daniel B. CAMPBELL, Auteur ; Barbara L. THOMPSON, Auteur ; Mica Y. BERGMAN, Auteur ; Pat LEVITT, Auteur . - 2011 . - p.68-83. Langues : Anglais (eng) in Autism Research > 4-1 (February 2011) . - p.68-83 Mots-clés : animal models  developmental neurobiology  neuroanatomy Index. décimale : PER Périodiques Résumé : Candidate risk genes for autism spectrum disorder (ASD) have been identified, but the challenge of determining their contribution to pathogenesis remains. We previously identified two ASD risk genes encoding the receptor tyrosine kinase MET and the urokinase plasminogen activator receptor (PLAUR), which is thought to modulate availability of the MET ligand. We also reported a role for Met signaling in cortical interneuron development in vitro and a reduction of these neurons in uPAR (mouse ortholog of PLAUR) null mice, suggesting that disruption of either gene impacts cortical development similarly. Here, we modify this conclusion, reporting that interneuron numbers are unchanged in the neocortex of Metfx/fx/ Dlx5/6cre mice, in which Met is ablated from cells arising from the ventral telencephalon (VTel). Consistent with this, Met transcript is not detected in the VTel during interneuron genesis and migration; furthermore, during the postnatal period of interneuron maturation, Met is co-expressed in glutamatergic projection neurons, but not interneurons. Low levels of Met protein are expressed in the VTel at E12.5 and E14.5, likely reflecting the arrival of Met containing corticofugal axons. Met expression, however, is induced in E12.5 VTel cells after 2 days in vitro, perhaps underlying discrepancies between observations in vitro and in Metfx/fx/ Dlx5/6cre mice. We suggest that, in vivo, Met impacts the development of cortical projection neurons, whereas uPAR influences interneuron maturation. An altered balance between excitation and inhibition has been postulated as a biological mechanism for ASD; this imbalance could arise from different risk genes differentially affecting either or both elements. En ligne : http://dx.doi.org/10.1002/aur.172 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118

(1)H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome / Pooja Kri GUPTA in Molecular Autism, 15 (2024)  

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22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

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[3H]-Flunitrazepam-labeled Benzodiazepine Binding Sites in the Hippocampal Formation in Autism: A Multiple Concentration Autoradiographic Study / Jeffrey T. GUPTILL in Journal of Autism and Developmental Disorders, 37-5 (May 2007)  

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Access to services, quality of care, and family impact for children with autism, other developmental disabilities, and other mental health conditions / Rini VOHRA in Autism, 18-7 (October 2014)  

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Accuracy of Modified Checklist for Autism in Toddlers (M-CHAT) in Detecting Autism and Other Developmental Disorders in Community Clinics / Teck-Hock TOH in Journal of Autism and Developmental Disorders, 48-1 (January 2018)  

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