http://purl.uniprot.org/citations/25452572 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25452572 | http://www.w3.org/2000/01/rdf-schema#comment | "Ranbp1, a Ran GTPase-binding protein implicated in nuclear/cytoplasmic trafficking, is included within the DiGeorge/22q11.2 Deletion Syndrome (22q11.2 DS) critical region associated with behavioral impairments including autism and schizophrenia. Ranbp1 is highly expressed in the developing forebrain ventricular/subventricular zone but has no known obligate function during brain development. We assessed the role of Ranbp1 in a targeted mouse mutant. Ranbp1(-/-) mice are not recovered live at birth, and over 60% of Ranbp1(-/-) embryos are exencephalic. Non-exencephalic Ranbp1(-/-) embryos are microcephalic, and proliferation of cortical progenitors is altered. At E10.5, radial progenitors divide more slowly in the Ranpb1(-/-) dorsal pallium. At E14.5, basal, but not apical/radial glial progenitors, are compromised in the cortex. In both E10.5 apical and E14.5 basal progenitors, M phase of the cell cycle appears selectively retarded by loss of Ranpb1 function. Ranbp1(-/-)-dependent proliferative deficits substantially diminish the frequency of layer 2/3, but not layer 5/6 cortical projection neurons. Ranbp1(-/-) cortical phenotypes parallel less severe alterations in LgDel mice that carry a deletion parallel to many (but not all) 22q11.2 DS patients. Thus, Ranbp1 emerges as a microcephaly gene within the 22q11.2 deleted region that may contribute to altered cortical precursor proliferation and neurogenesis associated with broader 22q11.2 deletion."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.org/dc/terms/identifier | "doi:10.1093/cercor/bhu285"xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/author | "Karpinski B.A."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/author | "Maynard T.M."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/author | "Meechan D.W."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/author | "LaMantia A.S."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/author | "Paronett E.M."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/name | "Cereb Cortex"xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/pages | "3977-3993"xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/title | "Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation."xsd:string |
http://purl.uniprot.org/citations/25452572 | http://purl.uniprot.org/core/volume | "25"xsd:string |
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