Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
4 recherche sur le mot-clé 'X Chromosome'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Complexities of X chromosome inactivation status in female human induced pluripotent stem cells-a brief review and scientific update for autism research / M. G. DANDULAKIS in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
[article]
Titre : Complexities of X chromosome inactivation status in female human induced pluripotent stem cells-a brief review and scientific update for autism research Type de document : Texte imprimé et/ou numérique Auteurs : M. G. DANDULAKIS, Auteur ; K. MEGANATHAN, Auteur ; K. L. KROLL, Auteur ; A. BONNI, Auteur ; John N. CONSTANTINO, Auteur Article en page(s) : p.22 Langues : Anglais (eng) Mots-clés : Asd Autism Developmental disorders X chromosome X-inactivation X-linked ASD X-reactivation iPSC "Female protective effect" Index. décimale : PER Périodiques Résumé : Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully represent an individual's genetic background; therefore, in the absence of available human brain tissue from a living patient, these models have a significant advantage relative to other models of neurodevelopmental disease. When using human induced pluripotent stem cells (hiPSCs) to model X-linked developmental disorders or inherited conditions that undergo sex-specific modulation of penetrance (e.g., autism spectrum disorders), there are significant complexities in the course and status of X chromosome inactivation (XCI) that are crucial to consider in establishing the validity of cellular models. There are major gaps and inconsistencies in the existing literature regarding XCI status during the derivation and maintenance of hiPSCs and their differentiation into neurons. Here, we briefly describe the importance of the problem, review the findings and inconsistencies of the existing literature, delineate options for specifying XCI status in clonal populations, and develop recommendations for future studies. En ligne : http://dx.doi.org/10.1186/s11689-016-9155-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.22[article] Complexities of X chromosome inactivation status in female human induced pluripotent stem cells-a brief review and scientific update for autism research [Texte imprimé et/ou numérique] / M. G. DANDULAKIS, Auteur ; K. MEGANATHAN, Auteur ; K. L. KROLL, Auteur ; A. BONNI, Auteur ; John N. CONSTANTINO, Auteur . - p.22.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.22
Mots-clés : Asd Autism Developmental disorders X chromosome X-inactivation X-linked ASD X-reactivation iPSC "Female protective effect" Index. décimale : PER Périodiques Résumé : Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully represent an individual's genetic background; therefore, in the absence of available human brain tissue from a living patient, these models have a significant advantage relative to other models of neurodevelopmental disease. When using human induced pluripotent stem cells (hiPSCs) to model X-linked developmental disorders or inherited conditions that undergo sex-specific modulation of penetrance (e.g., autism spectrum disorders), there are significant complexities in the course and status of X chromosome inactivation (XCI) that are crucial to consider in establishing the validity of cellular models. There are major gaps and inconsistencies in the existing literature regarding XCI status during the derivation and maintenance of hiPSCs and their differentiation into neurons. Here, we briefly describe the importance of the problem, review the findings and inconsistencies of the existing literature, delineate options for specifying XCI status in clonal populations, and develop recommendations for future studies. En ligne : http://dx.doi.org/10.1186/s11689-016-9155-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome / S. S. HALL in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
[article]
Titre : Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur Article en page(s) : p.16-27 Langues : Anglais (eng) Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27[article] Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome [Texte imprimé et/ou numérique] / S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur . - p.16-27.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27
Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder / Sophie RIJN in Journal of Autism and Developmental Disorders, 44-2 (February 2014)
[article]
Titre : The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sophie RIJN, Auteur ; Lex STOCKMANN, Auteur ; Martine BORGHGRAEF, Auteur ; Hilgo BRUINING, Auteur ; Conny RAVENSWAAIJ-ARTS, Auteur ; Lutgarde GOVAERTS, Auteur ; Kerstin HANSSON, Auteur ; Hanna SWAAB, Auteur Article en page(s) : p.310-320 Langues : Anglais (eng) Mots-clés : Klinefelter Trisomy X Autism Social functioning X chromosome Sex chromosomal aneuploidies Index. décimale : PER Périodiques Résumé : The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome. En ligne : http://dx.doi.org/10.1007/s10803-013-1860-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=223
in Journal of Autism and Developmental Disorders > 44-2 (February 2014) . - p.310-320[article] The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Sophie RIJN, Auteur ; Lex STOCKMANN, Auteur ; Martine BORGHGRAEF, Auteur ; Hilgo BRUINING, Auteur ; Conny RAVENSWAAIJ-ARTS, Auteur ; Lutgarde GOVAERTS, Auteur ; Kerstin HANSSON, Auteur ; Hanna SWAAB, Auteur . - p.310-320.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-2 (February 2014) . - p.310-320
Mots-clés : Klinefelter Trisomy X Autism Social functioning X chromosome Sex chromosomal aneuploidies Index. décimale : PER Périodiques Résumé : The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome. En ligne : http://dx.doi.org/10.1007/s10803-013-1860-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=223 Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies / T. GREEN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies Type de document : Texte imprimé et/ou numérique Auteurs : T. GREEN, Auteur ; P. E. NAYLOR, Auteur ; W. DAVIES, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : Attention deficit hyperactivity disorder Neurofibromatosis type 1 Noonan syndrome RASopathies Turner syndrome X chromosome Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. MAIN BODY: To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD. CONCLUSION: We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD. En ligne : http://dx.doi.org/10.1186/s11689-017-9205-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25[article] Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies [Texte imprimé et/ou numérique] / T. GREEN, Auteur ; P. E. NAYLOR, Auteur ; W. DAVIES, Auteur . - p.25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25
Mots-clés : Attention deficit hyperactivity disorder Neurofibromatosis type 1 Noonan syndrome RASopathies Turner syndrome X chromosome Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. MAIN BODY: To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD. CONCLUSION: We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD. En ligne : http://dx.doi.org/10.1186/s11689-017-9205-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350