Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
about
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant miceHaploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationDeletion 22q13.3 syndromeAdvances in autism genetics: on the threshold of a new neurobiologyNeuroligins and neurexins link synaptic function to cognitive diseaseTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaImportance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapsesProgressive accumulation of amyloid-beta oligomers in Alzheimer's disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteinsSynaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3Shank3 mutant mice display autistic-like behaviours and striatal dysfunctionThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationBehavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2Contribution of SHANK3 mutations to autism spectrum disorderIdentification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeCellular and synaptic network defects in autismTherapeutic approaches for shankopathiesGenetic aspects of autism spectrum disorders: insights from animal modelsActin-Dependent Alterations of Dendritic Spine Morphology in ShankopathiesThe Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and TreatmentInterstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeMolecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationPhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoringMice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects.Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders22q13.3 deletion syndrome: clinical and molecular analysis using array CGHCerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletionSHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeClinical utility gene card for: deletion 22q13 syndromeA patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 regionClinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeDirect interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptorShank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated regionCommunication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior.Conserved role of intragenic DNA methylation in regulating alternative promotersAn indirect route to repetitive actions.Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism.SHANK proteins: roles at the synapse and in autism spectrum disorder.
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P2860
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
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2003 nî lūn-bûn
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2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2003 թվականի օգոստոսին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
@zh-hant
2003年論文
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2003年論文
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2003年論文
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2003年论文
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name
Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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Molecular characterisation of ...... he major neurological symptoms
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P2093
P2860
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Molecular characterisation of ...... he major neurological symptoms
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A C C Wong
G A Stapleton
H E McDermid
H L Wilson
J Marshall
M C Phelan
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P304
P3181
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10.1136/JMG.40.8.575
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P577
2003-08-01T00:00:00Z