Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms - Wikidata - wikimedia - TriplyDB

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

http://www.wikidata.org/entity/Q24676539

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Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication Deletion 22q13.3 syndrome Advances in autism genetics: on the threshold of a new neurobiology Neuroligins and neurexins link synaptic function to cognitive disease Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses Progressive accumulation of amyloid-beta oligomers in Alzheimer's disease and in amyloid precursor protein transgenic mice is accompanied by selective alterations in synaptic scaffold proteins Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 Shank3 mutant mice display autistic-like behaviours and striatal dysfunction The 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 retardation Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2 Contribution of SHANK3 mutations to autism spectrum disorder Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome Cellular and synaptic network defects in autism Therapeutic approaches for shankopathies Genetic aspects of autism spectrum disorders: insights from animal models Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Mice 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 disorders 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome Clinical utility gene card for: deletion 22q13 syndrome A 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 region Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome Direct 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 receptor Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior.Conserved role of intragenic DNA methylation in regulating alternative promoters An 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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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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A C C Wong

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G A Stapleton

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H E McDermid

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H L Wilson

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J Marshall

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M C Phelan

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S Hu

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S R Shaw

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W-Y Tse

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P2860

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Genomic disorders on 22q11

Genomic sequencing

Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

22q13 deletion syndrome

ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease

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575-84

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10.1136/JMG.40.8.575

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10612426

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12920066

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haploinsufficiency

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