Dépouillements

Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy / Rubén MIRANDA in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-17 Titre : Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy Type de document : Texte imprimé et/ou numérique Auteurs : Rubén MIRANDA, Auteur ; Flora NAGAPIN, Auteur ; Bruno BOZON, Auteur ; Serge LAROCHE, Auteur ; Thierry AUBIN, Auteur ; Cyrille VAILLEND, Auteur Article en page(s) : p.1-17 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The Duchenne and Becker muscular dystrophies (DMD, BMD) show significant comorbid diagnosis for autism, and the genomic sequences encoding the proteins responsible for these diseases, the dystrophin and associated proteins, have been proposed as new candidate risk loci for autism. Dystrophin is expressed not only in muscles but also in central inhibitory synapses in the cerebellum, hippocampus, amygdala, and cerebral cortex, where it contributes to the organization of autism-associated trans-synaptic neurexin-neuroligin complexes and to the clustering of synaptic gamma-aminobutyric acid (GABA)A receptors. While brain defects due to dystrophin loss are associated with deficits in cognitive and executive functions, communication skills and social behavior, only a subpopulation of DMD patients meet the criteria for autism, suggesting that mutations in the dystrophin gene may confer a vulnerability to autism. The loss of dystrophin in the mdx mouse model of DMD has been associated with cognitive and emotional alterations, but social behavior and communication abilities have never been studied in this model. En ligne : http://dx.doi.org/10.1186/s13229-015-0053-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Altered social behavior and ultrasonic communication in the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy [Texte imprimé et/ou numérique] / Rubén MIRANDA, Auteur ; Flora NAGAPIN, Auteur ; Bruno BOZON, Auteur ; Serge LAROCHE, Auteur ; Thierry AUBIN, Auteur ; Cyrille VAILLEND, Auteur . - p.1-17. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-17 Index. décimale : PER Périodiques Résumé : The Duchenne and Becker muscular dystrophies (DMD, BMD) show significant comorbid diagnosis for autism, and the genomic sequences encoding the proteins responsible for these diseases, the dystrophin and associated proteins, have been proposed as new candidate risk loci for autism. Dystrophin is expressed not only in muscles but also in central inhibitory synapses in the cerebellum, hippocampus, amygdala, and cerebral cortex, where it contributes to the organization of autism-associated trans-synaptic neurexin-neuroligin complexes and to the clustering of synaptic gamma-aminobutyric acid (GABA)A receptors. While brain defects due to dystrophin loss are associated with deficits in cognitive and executive functions, communication skills and social behavior, only a subpopulation of DMD patients meet the criteria for autism, suggesting that mutations in the dystrophin gene may confer a vulnerability to autism. The loss of dystrophin in the mdx mouse model of DMD has been associated with cognitive and emotional alterations, but social behavior and communication abilities have never been studied in this model. En ligne : http://dx.doi.org/10.1186/s13229-015-0053-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Aberrant functioning of the theory-of-mind network in children and adolescents with autism / Rajesh K. KANA in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-12 Titre : Aberrant functioning of the theory-of-mind network in children and adolescents with autism Type de document : Texte imprimé et/ou numérique Auteurs : Rajesh K. KANA, Auteur ; Jose O. MAXIMO, Auteur ; Diane L. WILLIAMS, Auteur ; Timothy A. KELLER, Auteur ; Sarah E. SCHIPUL, Auteur ; Vladimir L. CHERKASSKY, Auteur ; Nancy J. MINSHEW, Auteur ; Marcel Adam JUST, Auteur Article en page(s) : p.1-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Theory-of-mind (ToM), the ability to infer people’s thoughts and feelings, is a pivotal skill in effective social interactions. Individuals with autism spectrum disorders (ASD) have been found to have altered ToM skills, which significantly impacts the quality of their social interactions. Neuroimaging studies have reported altered activation of the ToM cortical network, especially in adults with autism, yet little is known about the brain responses underlying ToM in younger individuals with ASD. This functional magnetic resonance imaging (fMRI) study investigated the neural mechanisms underlying ToM in high-functioning children and adolescents with ASD and matched typically developing (TD) peers. En ligne : http://dx.doi.org/10.1186/s13229-015-0052-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Aberrant functioning of the theory-of-mind network in children and adolescents with autism [Texte imprimé et/ou numérique] / Rajesh K. KANA, Auteur ; Jose O. MAXIMO, Auteur ; Diane L. WILLIAMS, Auteur ; Timothy A. KELLER, Auteur ; Sarah E. SCHIPUL, Auteur ; Vladimir L. CHERKASSKY, Auteur ; Nancy J. MINSHEW, Auteur ; Marcel Adam JUST, Auteur . - p.1-12. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-12 Index. décimale : PER Périodiques Résumé : Theory-of-mind (ToM), the ability to infer people’s thoughts and feelings, is a pivotal skill in effective social interactions. Individuals with autism spectrum disorders (ASD) have been found to have altered ToM skills, which significantly impacts the quality of their social interactions. Neuroimaging studies have reported altered activation of the ToM cortical network, especially in adults with autism, yet little is known about the brain responses underlying ToM in younger individuals with ASD. This functional magnetic resonance imaging (fMRI) study investigated the neural mechanisms underlying ToM in high-functioning children and adolescents with ASD and matched typically developing (TD) peers. En ligne : http://dx.doi.org/10.1186/s13229-015-0052-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Platelet studies in autism spectrum disorder patients and first-degree relatives / Nora BIJL in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-10 Titre : Platelet studies in autism spectrum disorder patients and first-degree relatives Type de document : Texte imprimé et/ou numérique Auteurs : Nora BIJL, Auteur ; Chantal THYS, Auteur ; Christine WITTEVRONGEL, Auteur ; Wouter DE LA MARCHE, Auteur ; Koenraad DEVRIENDT, Auteur ; Hilde PEETERS, Auteur ; Chris VAN GEET, Auteur ; Kathleen FRESON, Auteur Article en page(s) : p.1-10 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Platelets have been proven to be a useful cellular model to study some neuropathologies, due to the overlapping biological features between neurons and platelets as granule secreting cells. Altered platelet dense granule morphology was previously reported in three autism spectrum disorder (ASD) patients with chromosomal translocations that disrupted ASD candidate genes NBEA, SCAMP5, and AMYSIN, but a systematic analysis of platelet function in ASD is lacking in contrast to numerous reports of elevated serotonin levels in platelets and blood as potential biomarker for ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0051-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Platelet studies in autism spectrum disorder patients and first-degree relatives [Texte imprimé et/ou numérique] / Nora BIJL, Auteur ; Chantal THYS, Auteur ; Christine WITTEVRONGEL, Auteur ; Wouter DE LA MARCHE, Auteur ; Koenraad DEVRIENDT, Auteur ; Hilde PEETERS, Auteur ; Chris VAN GEET, Auteur ; Kathleen FRESON, Auteur . - p.1-10. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-10 Index. décimale : PER Périodiques Résumé : Platelets have been proven to be a useful cellular model to study some neuropathologies, due to the overlapping biological features between neurons and platelets as granule secreting cells. Altered platelet dense granule morphology was previously reported in three autism spectrum disorder (ASD) patients with chromosomal translocations that disrupted ASD candidate genes NBEA, SCAMP5, and AMYSIN, but a systematic analysis of platelet function in ASD is lacking in contrast to numerous reports of elevated serotonin levels in platelets and blood as potential biomarker for ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0051-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families / Thomas W. FRAZIER in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-12 Titre : Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families Type de document : Texte imprimé et/ou numérique Auteurs : Thomas W. FRAZIER, Auteur ; Eric A. YOUNGSTROM, Auteur ; Antonio Y. HARDAN, Auteur ; Stelios GEORGIADES, Auteur ; John N. CONSTANTINO, Auteur ; Charis ENG, Auteur Article en page(s) : p.1-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Previous studies have demonstrated aggregation of autistic traits in undiagnosed family members of children with autism spectrum disorder (ASD), which has significant implications for ASD risk in their offspring. This study capitalizes upon a large, quantitatively characterized clinical-epidemiologic family sample to establish the extent to which family transmission pattern and sex modulate ASD trait aggregation. En ligne : http://dx.doi.org/10.1186/s13229-015-0050-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families [Texte imprimé et/ou numérique] / Thomas W. FRAZIER, Auteur ; Eric A. YOUNGSTROM, Auteur ; Antonio Y. HARDAN, Auteur ; Stelios GEORGIADES, Auteur ; John N. CONSTANTINO, Auteur ; Charis ENG, Auteur . - p.1-12. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-12 Index. décimale : PER Périodiques Résumé : Previous studies have demonstrated aggregation of autistic traits in undiagnosed family members of children with autism spectrum disorder (ASD), which has significant implications for ASD risk in their offspring. This study capitalizes upon a large, quantitatively characterized clinical-epidemiologic family sample to establish the extent to which family transmission pattern and sex modulate ASD trait aggregation. En ligne : http://dx.doi.org/10.1186/s13229-015-0050-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Role of the cytoplasmic isoform of RBFOX1/A2BP1 in establishing the architecture of the developing cerebral cortex / Nanako HAMADA in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-13 Titre : Role of the cytoplasmic isoform of RBFOX1/A2BP1 in establishing the architecture of the developing cerebral cortex Type de document : Texte imprimé et/ou numérique Auteurs : Nanako HAMADA, Auteur ; Hidenori ITO, Auteur ; Ikuko IWAMOTO, Auteur ; Rika MORISHITA, Auteur ; Hidenori TABATA, Auteur ; Koh-ichi NAGATA, Auteur Article en page(s) : p.1-13 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : RBFOX1 (also known as FOX1 or A2BP1) regulates alternative splicing of a variety of transcripts crucial for neuronal functions. Physiological significance of RBFOX1 during brain development is seemingly essential since abnormalities in the gene cause autism spectrum disorder (ASD) and other neurodevelopmental and neuropsychiatric disorders such as intellectual disability, epilepsy, attention deficit hyperactivity disorder, and schizophrenia. RBFOX1 was also shown to serve as a “hub” in ASD gene transcriptome network. However, the pathophysiological significance of RBFOX1 gene abnormalities remains to be clarified. En ligne : http://dx.doi.org/10.1186/s13229-015-0049-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Role of the cytoplasmic isoform of RBFOX1/A2BP1 in establishing the architecture of the developing cerebral cortex [Texte imprimé et/ou numérique] / Nanako HAMADA, Auteur ; Hidenori ITO, Auteur ; Ikuko IWAMOTO, Auteur ; Rika MORISHITA, Auteur ; Hidenori TABATA, Auteur ; Koh-ichi NAGATA, Auteur . - p.1-13. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-13 Index. décimale : PER Périodiques Résumé : RBFOX1 (also known as FOX1 or A2BP1) regulates alternative splicing of a variety of transcripts crucial for neuronal functions. Physiological significance of RBFOX1 during brain development is seemingly essential since abnormalities in the gene cause autism spectrum disorder (ASD) and other neurodevelopmental and neuropsychiatric disorders such as intellectual disability, epilepsy, attention deficit hyperactivity disorder, and schizophrenia. RBFOX1 was also shown to serve as a “hub” in ASD gene transcriptome network. However, the pathophysiological significance of RBFOX1 gene abnormalities remains to be clarified. En ligne : http://dx.doi.org/10.1186/s13229-015-0049-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment / Ping WANG in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-18 Titre : CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment Type de document : Texte imprimé et/ou numérique Auteurs : Ping WANG, Auteur ; Mingyan LIN, Auteur ; Erika PEDROSA, Auteur ; Anastasia HRABOVSKY, Auteur ; Zheng ZHANG, Auteur ; Wenjun GUO, Auteur ; Herbert M. LACHMAN, Auteur ; Deyou ZHENG, Auteur Article en page(s) : p.1-18 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Disruptive mutation in the CHD8 gene is one of the top genetic risk factors in autism spectrum disorders (ASDs). Previous analyses of genome-wide CHD8 occupancy and reduced expression of CHD8 by shRNA knockdown in committed neural cells showed that CHD8 regulates multiple cell processes critical for neural functions, and its targets are enriched with ASD-associated genes. En ligne : http://dx.doi.org/10.1186/s13229-015-0048-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment [Texte imprimé et/ou numérique] / Ping WANG, Auteur ; Mingyan LIN, Auteur ; Erika PEDROSA, Auteur ; Anastasia HRABOVSKY, Auteur ; Zheng ZHANG, Auteur ; Wenjun GUO, Auteur ; Herbert M. LACHMAN, Auteur ; Deyou ZHENG, Auteur . - p.1-18. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-18 Index. décimale : PER Périodiques Résumé : Disruptive mutation in the CHD8 gene is one of the top genetic risk factors in autism spectrum disorders (ASDs). Previous analyses of genome-wide CHD8 occupancy and reduced expression of CHD8 by shRNA knockdown in committed neural cells showed that CHD8 regulates multiple cell processes critical for neural functions, and its targets are enriched with ASD-associated genes. En ligne : http://dx.doi.org/10.1186/s13229-015-0048-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Insistence on sameness relates to increased covariance of gray matter structure in autism spectrum disorder / Ian W. EISENBERG in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-12 Titre : Insistence on sameness relates to increased covariance of gray matter structure in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ian W. EISENBERG, Auteur ; Gregory L. WALLACE, Auteur ; Lauren KENWORTHY, Auteur ; Stephen J. GOTTS, Auteur ; Alex MARTIN, Auteur Article en page(s) : p.1-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by atypical development of cortical and subcortical gray matter volume. Subcortical structural changes have been associated with restricted and repetitive behavior (RRB), a core component of ASD. Behavioral studies have identified insistence on sameness (IS) as a separable RRB dimension prominent in high-functioning ASD, though no simple brain-behavior relationship has emerged. Structural covariance, a measure of morphological coupling among brain regions using magnetic resonance imaging (MRI), has proven an informative measure of anatomical relationships in typical development and neurodevelopmental disorders. In this study, we use this measure to characterize the relationship between brain structure and IS. En ligne : http://dx.doi.org/10.1186/s13229-015-0047-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Insistence on sameness relates to increased covariance of gray matter structure in autism spectrum disorder [Texte imprimé et/ou numérique] / Ian W. EISENBERG, Auteur ; Gregory L. WALLACE, Auteur ; Lauren KENWORTHY, Auteur ; Stephen J. GOTTS, Auteur ; Alex MARTIN, Auteur . - p.1-12. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-12 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by atypical development of cortical and subcortical gray matter volume. Subcortical structural changes have been associated with restricted and repetitive behavior (RRB), a core component of ASD. Behavioral studies have identified insistence on sameness (IS) as a separable RRB dimension prominent in high-functioning ASD, though no simple brain-behavior relationship has emerged. Structural covariance, a measure of morphological coupling among brain regions using magnetic resonance imaging (MRI), has proven an informative measure of anatomical relationships in typical development and neurodevelopmental disorders. In this study, we use this measure to characterize the relationship between brain structure and IS. En ligne : http://dx.doi.org/10.1186/s13229-015-0047-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277