Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits / Xin HE in Molecular Autism, (November 2015)  

Public ISBD [article]  inMolecular Autism > (November 2015) . - p.1-10 Titre : Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits Type de document : Texte imprimé et/ou numérique Auteurs : Xin HE, Auteur ; Stetson THACKER, Auteur ; Todd ROMIGH, Auteur ; Qi YU, Auteur ; Thomas W. FRAZIER, Auteur ; Charis ENG, Auteur Article en page(s) : p.1-10 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairment in social communication/interaction and inflexible/repetitive behavior. Several lines of evidence support genetic factors as a predominant cause of ASD. Among those autism susceptibility genes that have been identified, the PTEN tumor suppressor gene, initially identified as predisposing to Cowden heritable cancer syndrome, was found to be mutated in a subset of ASD patients with extreme macrocephaly. However, the ASD-relevant molecular mechanism mediating the effect of PTEN mutations remains elusive. En ligne : http://dx.doi.org/10.1186/s13229-015-0056-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits [Texte imprimé et/ou numérique] / Xin HE, Auteur ; Stetson THACKER, Auteur ; Todd ROMIGH, Auteur ; Qi YU, Auteur ; Thomas W. FRAZIER, Auteur ; Charis ENG, Auteur . - p.1-10. Langues : Anglais (eng) in Molecular Autism > (November 2015) . - p.1-10 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impairment in social communication/interaction and inflexible/repetitive behavior. Several lines of evidence support genetic factors as a predominant cause of ASD. Among those autism susceptibility genes that have been identified, the PTEN tumor suppressor gene, initially identified as predisposing to Cowden heritable cancer syndrome, was found to be mutated in a subset of ASD patients with extreme macrocephaly. However, the ASD-relevant molecular mechanism mediating the effect of PTEN mutations remains elusive. En ligne : http://dx.doi.org/10.1186/s13229-015-0056-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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

Evaluation of the Integrated Therapy Model in Preschool Education for Children with Autism Spectrum Disorder in China / Jialiang CUI in Journal of Autism and Developmental Disorders, 53-11 (November 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-11 (November 2023) . - p.4474-4482 Titre : Evaluation of the Integrated Therapy Model in Preschool Education for Children with Autism Spectrum Disorder in China Type de document : Texte imprimé et/ou numérique Auteurs : Jialiang CUI, Auteur ; Han XIE, Auteur ; Xin HE, Auteur Article en page(s) : p.4474-4482 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The Integrated Therapy Model is a practice framework designed to promote multi-disciplinary collaboration to accommodate the holistic needs of children with special education needs. This study evaluated the effectiveness of the model adopted in a pilot preschool in China on children with autism spectrum disorder (ASD). A single-case, ABAB reversal design was employed with three children with ASD, and data were collected using direct observation and semi-structured interviews. The results demonstrated that while the model piloted in China was effective at improving fine motor ability, gross motor ability, imitation and problem behavior, it had mild to questionable effects on self-care and independent living capacity. The implications for the practice and for research on preschool interventions in mainland China is discussed. En ligne : https://doi.org/10.1007/s10803-022-05737-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=512 [article] Evaluation of the Integrated Therapy Model in Preschool Education for Children with Autism Spectrum Disorder in China [Texte imprimé et/ou numérique] / Jialiang CUI, Auteur ; Han XIE, Auteur ; Xin HE, Auteur . - p.4474-4482. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-11 (November 2023) . - p.4474-4482 Index. décimale : PER Périodiques Résumé : The Integrated Therapy Model is a practice framework designed to promote multi-disciplinary collaboration to accommodate the holistic needs of children with special education needs. This study evaluated the effectiveness of the model adopted in a pilot preschool in China on children with autism spectrum disorder (ASD). A single-case, ABAB reversal design was employed with three children with ASD, and data were collected using direct observation and semi-structured interviews. The results demonstrated that while the model piloted in China was effective at improving fine motor ability, gross motor ability, imitation and problem behavior, it had mild to questionable effects on self-care and independent living capacity. The implications for the practice and for research on preschool interventions in mainland China is discussed. En ligne : https://doi.org/10.1007/s10803-022-05737-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=512

Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3(-/y) rat model of autism / Natasha J. ANSTEY in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 34 p. Titre : Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3(-/y) rat model of autism Type de document : Texte imprimé et/ou numérique Auteurs : Natasha J. ANSTEY, Auteur ; Vijayakumar KAPGAL, Auteur ; Shashank TIWARI, Auteur ; Thomas C. WATSON, Auteur ; Anna K. H. TOFT, Auteur ; Owen R. DANDO, Auteur ; Felicity H. INKPEN, Auteur ; Paul S. BAXTER, Auteur ; Zrinko KOZIĆ, Auteur ; Adam D. JACKSON, Auteur ; Xin HE, Auteur ; Mohammad SARFARAZ NAWAZ, Auteur ; Aiman KAYENAAT, Auteur ; Aditi BHATTACHARYA, Auteur ; David J. A. WYLLIE, Auteur ; Sumantra CHATTARJI, Auteur ; Emma R. WOOD, Auteur ; Oliver HARDT, Auteur ; Peter C. KIND, Auteur Article en page(s) : 34 p. Langues : Anglais (eng) Mots-clés : Animals  Autistic Disorder/metabolism  Fear/physiology  Freezing  Humans  Neurons/physiology  Periaqueductal Gray/metabolism  Rats  Autism  Fear  Flight  Intellectual disability  Neuroligin-3  Periaqueductal grey Index. décimale : PER Périodiques Résumé : BACKGROUND: Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied in models of these disorders, however differences in fear response behaviours are often overlooked. We aim to examine fear behaviour and its cellular underpinnings in a rat model of ASD/ID lacking Nlgn3. METHODS: This study uses a range of behavioural tests to understand differences in fear response behaviour in Nlgn3(-/y) rats. Following this, we examined the physiological underpinnings of this in neurons of the periaqueductal grey (PAG), a midbrain area involved in flight-or-freeze responses. We used whole-cell patch-clamp recordings from ex vivo PAG slices, in addition to in vivo local-field potential recordings and electrical stimulation of the PAG in wildtype and Nlgn3(-/y) rats. We analysed behavioural data with two- and three-way ANOVAS and electrophysiological data with generalised linear mixed modelling (GLMM). RESULTS: We observed that, unlike the wildtype, Nlgn3(-/y) rats are more likely to response with flight rather than freezing in threatening situations. Electrophysiological findings were in agreement with these behavioural outcomes. We found in ex vivo slices from Nlgn3(-/y) rats that neurons in dorsal PAG (dPAG) showed intrinsic hyperexcitability compared to wildtype. Similarly, stimulating dPAG in vivo revealed that lower magnitudes sufficed to evoke flight behaviour in Nlgn3(-/y) than wildtype rats, indicating the functional impact of the increased cellular excitability. LIMITATIONS: Our findings do not examine what specific cell type in the PAG is likely responsible for these phenotypes. Furthermore, we have focussed on phenotypes in young adult animals, whilst the human condition associated with NLGN3 mutations appears during the first few years of life. CONCLUSIONS: We describe altered fear responses in Nlgn3(-/y) rats and provide evidence that this is the result of a circuit bias that predisposes flight over freeze responses. Additionally, we demonstrate the first link between PAG dysfunction and ASD/ID. This study provides new insight into potential pathophysiologies leading to anxiety disorders and changes to fear responses in individuals with ASD. En ligne : http://dx.doi.org/10.1186/s13229-022-00511-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3(-/y) rat model of autism [Texte imprimé et/ou numérique] / Natasha J. ANSTEY, Auteur ; Vijayakumar KAPGAL, Auteur ; Shashank TIWARI, Auteur ; Thomas C. WATSON, Auteur ; Anna K. H. TOFT, Auteur ; Owen R. DANDO, Auteur ; Felicity H. INKPEN, Auteur ; Paul S. BAXTER, Auteur ; Zrinko KOZIĆ, Auteur ; Adam D. JACKSON, Auteur ; Xin HE, Auteur ; Mohammad SARFARAZ NAWAZ, Auteur ; Aiman KAYENAAT, Auteur ; Aditi BHATTACHARYA, Auteur ; David J. A. WYLLIE, Auteur ; Sumantra CHATTARJI, Auteur ; Emma R. WOOD, Auteur ; Oliver HARDT, Auteur ; Peter C. KIND, Auteur . - 34 p. Langues : Anglais (eng) in Molecular Autism > 13 (2022) . - 34 p. Mots-clés : Animals  Autistic Disorder/metabolism  Fear/physiology  Freezing  Humans  Neurons/physiology  Periaqueductal Gray/metabolism  Rats  Autism  Fear  Flight  Intellectual disability  Neuroligin-3  Periaqueductal grey Index. décimale : PER Périodiques Résumé : BACKGROUND: Mutations in the postsynaptic transmembrane protein neuroligin-3 are highly correlative with autism spectrum disorders (ASDs) and intellectual disabilities (IDs). Fear learning is well studied in models of these disorders, however differences in fear response behaviours are often overlooked. We aim to examine fear behaviour and its cellular underpinnings in a rat model of ASD/ID lacking Nlgn3. METHODS: This study uses a range of behavioural tests to understand differences in fear response behaviour in Nlgn3(-/y) rats. Following this, we examined the physiological underpinnings of this in neurons of the periaqueductal grey (PAG), a midbrain area involved in flight-or-freeze responses. We used whole-cell patch-clamp recordings from ex vivo PAG slices, in addition to in vivo local-field potential recordings and electrical stimulation of the PAG in wildtype and Nlgn3(-/y) rats. We analysed behavioural data with two- and three-way ANOVAS and electrophysiological data with generalised linear mixed modelling (GLMM). RESULTS: We observed that, unlike the wildtype, Nlgn3(-/y) rats are more likely to response with flight rather than freezing in threatening situations. Electrophysiological findings were in agreement with these behavioural outcomes. We found in ex vivo slices from Nlgn3(-/y) rats that neurons in dorsal PAG (dPAG) showed intrinsic hyperexcitability compared to wildtype. Similarly, stimulating dPAG in vivo revealed that lower magnitudes sufficed to evoke flight behaviour in Nlgn3(-/y) than wildtype rats, indicating the functional impact of the increased cellular excitability. LIMITATIONS: Our findings do not examine what specific cell type in the PAG is likely responsible for these phenotypes. Furthermore, we have focussed on phenotypes in young adult animals, whilst the human condition associated with NLGN3 mutations appears during the first few years of life. CONCLUSIONS: We describe altered fear responses in Nlgn3(-/y) rats and provide evidence that this is the result of a circuit bias that predisposes flight over freeze responses. Additionally, we demonstrate the first link between PAG dysfunction and ASD/ID. This study provides new insight into potential pathophysiologies leading to anxiety disorders and changes to fear responses in individuals with ASD. En ligne : http://dx.doi.org/10.1186/s13229-022-00511-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

---

1 (1 - 4 / 4)