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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
44
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pubmed:dateCreated |
2010-11-4
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pubmed:abstractText |
Deletion of the human SHANK3 gene near the terminus of chromosome 22q is associated with Phelan-McDermid syndrome and autism spectrum disorders. Nearly all such deletions also span the tightly linked IB2 gene. We show here that IB2 protein is broadly expressed in the brain and is highly enriched within postsynaptic densities. Experimental disruption of the IB2 gene in mice reduces AMPA and enhances NMDA receptor-mediated glutamatergic transmission in cerebellum, changes the morphology of Purkinje cell dendritic arbors, and induces motor and cognitive deficits suggesting an autism phenotype. These findings support a role for human IB2 mutation as a contributing genetic factor in Chr22qter-associated cognitive disorders.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1529-2401
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
3
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
14805-16
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pubmed:dateRevised |
2011-10-25
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pubmed:meshHeading |
pubmed-meshheading:21048139-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:21048139-Animals,
pubmed-meshheading:21048139-Cerebellar Diseases,
pubmed-meshheading:21048139-Child Development Disorders, Pervasive,
pubmed-meshheading:21048139-Chromosomes, Human, Pair 22,
pubmed-meshheading:21048139-Cognition Disorders,
pubmed-meshheading:21048139-Disease Models, Animal,
pubmed-meshheading:21048139-Female,
pubmed-meshheading:21048139-Genetic Predisposition to Disease,
pubmed-meshheading:21048139-Humans,
pubmed-meshheading:21048139-Infant, Newborn,
pubmed-meshheading:21048139-Male,
pubmed-meshheading:21048139-Mental Disorders,
pubmed-meshheading:21048139-Mice,
pubmed-meshheading:21048139-Mice, Knockout,
pubmed-meshheading:21048139-Mice, Transgenic,
pubmed-meshheading:21048139-Receptors, AMPA,
pubmed-meshheading:21048139-Receptors, N-Methyl-D-Aspartate,
pubmed-meshheading:21048139-Synaptic Transmission
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pubmed:year |
2010
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pubmed:articleTitle |
Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2.
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pubmed:affiliation |
Department of Biological Sciences, Hunter College, City University of New York, New York, New York 10065, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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