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2 recherche sur le mot-clé '22q13 deletion'
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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Phelan-McDermid Syndrome: Clinical Aspects Type de document : Texte imprimé et/ou numérique Auteurs : Katy PHELAN, Auteur ; Luigi BOCCUTO, Auteur ; Sara SARASUA, Auteur Année de publication : 2016 Importance : p.347-364 Langues : Anglais (eng) Mots-clés : 22q13 deletion Absent speech Autism Dysplastic toenails Hypotonia Intellectual impairment Phelan–McDermid SHANK3 Speech delay Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Phelan–McDermid syndrome (PMS), also known as the 22q13 deletion syndrome, is a genetic condition characterized by neonatal hypotonia, developmental delay, absent or impaired speech, and minor dysmorphic features. PMS typically results from a deletion of the distal long arm of chromosome 22, with the size of the deleted segment ranging from less than 100 kb to greater than 9 MB. The loss of 22q13 may result from a terminal deletion, an interstitial deletion, an unbalanced translocation, formation of a ring chromosome, or other types of structural chromosome aberrations. In most cases, the deletion results in haploinsufficiency for the SHANK3 gene which codes for a scaffolding protein in the postsynaptic density of excitatory neurons. Mutation or disruption of the SHANK3 gene may also result in PMS. The diagnosis of PMS relies on laboratory confirmation by molecular cytogenetic or molecular genetic methods. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00021-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Phelan-McDermid Syndrome: Clinical Aspects [Texte imprimé et/ou numérique] / Katy PHELAN, Auteur ; Luigi BOCCUTO, Auteur ; Sara SARASUA, Auteur . - 2016 . - p.347-364.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : 22q13 deletion Absent speech Autism Dysplastic toenails Hypotonia Intellectual impairment Phelan–McDermid SHANK3 Speech delay Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Phelan–McDermid syndrome (PMS), also known as the 22q13 deletion syndrome, is a genetic condition characterized by neonatal hypotonia, developmental delay, absent or impaired speech, and minor dysmorphic features. PMS typically results from a deletion of the distal long arm of chromosome 22, with the size of the deleted segment ranging from less than 100 kb to greater than 9 MB. The loss of 22q13 may result from a terminal deletion, an interstitial deletion, an unbalanced translocation, formation of a ring chromosome, or other types of structural chromosome aberrations. In most cases, the deletion results in haploinsufficiency for the SHANK3 gene which codes for a scaffolding protein in the postsynaptic density of excitatory neurons. Mutation or disruption of the SHANK3 gene may also result in PMS. The diagnosis of PMS relies on laboratory confirmation by molecular cytogenetic or molecular genetic methods. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00021-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Shank3?deficient rats exhibit degraded cortical responses to sound / T. ENGINEER CRYSTAL in Autism Research, 11-1 (January 2018)
[article]
Titre : Shank3?deficient rats exhibit degraded cortical responses to sound Type de document : Texte imprimé et/ou numérique Auteurs : T. ENGINEER CRYSTAL, Auteur ; C. RAHEBI KIMIYA, Auteur ; S. BORLAND MICHAEL, Auteur ; P. BUELL ELIZABETH, Auteur ; W. IM KWOK, Auteur ; Linda G. WILSON, Auteur ; Pryanka SHARMA, Auteur ; Sven VANNESTE, Auteur ; Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur ; P. KILGARD MICHAEL, Auteur Article en page(s) : p.59-68 Langues : Anglais (eng) Mots-clés : Phelan?McDermid syndrome 22q13 deletion autism SHANK3?haploinsufficiency syndromes Index. décimale : PER Périodiques Résumé : Individuals with SHANK3 mutations have severely impaired receptive and expressive language abilities. While brain responses are known to be abnormal in these individuals, the auditory cortex response to sound has remained largely understudied. In this study, we document the auditory cortex response to speech and non?speech sounds in the novel Shank3?deficient rat model. We predicted that the auditory cortex response to sounds would be impaired in Shank3?deficient rats. We found that auditory cortex responses were weaker in Shank3 heterozygous rats compared to wild?type rats. Additionally, Shank3 heterozygous responses had less spontaneous auditory cortex firing and were unable to respond well to rapid trains of noise bursts. The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan?McDermid syndrome. Autism Res 2018, 11: 59?68. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Individuals with SHANK3 mutations have severely impaired language abilities, yet the auditory cortex response to sound has remained largely understudied. In this study, we found that auditory cortex responses were weaker and were unable to respond well to rapid sounds in Shank3?deficient rats compared to control rats. The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan?McDermid syndrome. En ligne : https://doi.org/10.1002/aur.1883 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333
in Autism Research > 11-1 (January 2018) . - p.59-68[article] Shank3?deficient rats exhibit degraded cortical responses to sound [Texte imprimé et/ou numérique] / T. ENGINEER CRYSTAL, Auteur ; C. RAHEBI KIMIYA, Auteur ; S. BORLAND MICHAEL, Auteur ; P. BUELL ELIZABETH, Auteur ; W. IM KWOK, Auteur ; Linda G. WILSON, Auteur ; Pryanka SHARMA, Auteur ; Sven VANNESTE, Auteur ; Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur ; P. KILGARD MICHAEL, Auteur . - p.59-68.
Langues : Anglais (eng)
in Autism Research > 11-1 (January 2018) . - p.59-68
Mots-clés : Phelan?McDermid syndrome 22q13 deletion autism SHANK3?haploinsufficiency syndromes Index. décimale : PER Périodiques Résumé : Individuals with SHANK3 mutations have severely impaired receptive and expressive language abilities. While brain responses are known to be abnormal in these individuals, the auditory cortex response to sound has remained largely understudied. In this study, we document the auditory cortex response to speech and non?speech sounds in the novel Shank3?deficient rat model. We predicted that the auditory cortex response to sounds would be impaired in Shank3?deficient rats. We found that auditory cortex responses were weaker in Shank3 heterozygous rats compared to wild?type rats. Additionally, Shank3 heterozygous responses had less spontaneous auditory cortex firing and were unable to respond well to rapid trains of noise bursts. The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan?McDermid syndrome. Autism Res 2018, 11: 59?68. ? 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Individuals with SHANK3 mutations have severely impaired language abilities, yet the auditory cortex response to sound has remained largely understudied. In this study, we found that auditory cortex responses were weaker and were unable to respond well to rapid sounds in Shank3?deficient rats compared to control rats. The rat model of the auditory impairments in SHANK3 mutation could be used to test potential rehabilitation or drug therapies to improve the communication impairments observed in individuals with Phelan?McDermid syndrome. En ligne : https://doi.org/10.1002/aur.1883 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=333