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| http://purl.uniprot.org/citations/26942102 | http://www.w3.org/2000/01/rdf-schema#comment | "2Iq23.1 microdeletion syndrome is a recently described rare disease that includes intellectual disability, motor delay, autistic-like behaviors, and craniofacial abnormalities. Dosage insufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene was suggested as the genetic cause, since all the described patients carry a partial or total heterozygous deletion of MBD5. We reported the generation and characterization of a mouse model with haploinsufficiency for Mbd5 that confirmed this hypothesis. As in human 2q23.1 microdeletion syndrome, the MBD5 (+/GT) mouse model exhibited abnormal social behavior, cognitive impairment, and motor and craniofacial abnormalities, supporting a causal role for MBD5 in 2q23.1 microdeletion syndrome. The use of mouse neuronal cultures uncovered a deficiency in neurite outgrowth, suggesting the participation of MBD5 in neuronal processes. The study of the MBD5 (+/GT) mouse advanced our understanding of the abnormal brain development associated with behavioral and cognitive symptoms."xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.org/dc/terms/identifier | "doi:10.4161/2167549x.2014.967151"xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/author | "Walz K."xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/author | "Young J.I."xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/name | "Rare Dis"xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/pages | "e967151"xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/title | "The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome."xsd:string |
| http://purl.uniprot.org/citations/26942102 | http://purl.uniprot.org/core/volume | "2"xsd:string |
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