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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 

Your search matched a total of 71 documents. Results 1 - 10.

Homo sapiens
Gene: ... Disease relevance of UBE3A Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain...) associated with functional deficit of the UBE3A gene. This imprinted domain arose after a region bearing UBE3..., by the heterodimer HPV E6/ E6- associated protein( E6AP). Psychiatry related information on UBE3A MeCP2 deficiency...
Gallus gallus
Gene: ... Disease relevance of UBE3A UBE3A, the gene associated with Angelman syndrome, is part of a cluster... imprinting. High impact information on UBE3A Biallelic expression of UBE3A is observed in embryonic chicken brain and limb, indicating that UBE3A is not subject to genomic imprinting in chicken. We have assembled...
Mus musculus
Gene: ... Disease relevance of Ube3a Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia... syndrome. These data suggest that, like the candidate Angelman syndrome gene Ube3a( ubiquitin ligase ), Usp... syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript...
MeSH term: ... with the loss of maternal- specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse...
Drosophila melanogaster
Gene: Synonyms: UBE3A; dUBE3A; ube3a
MeSH term: ... in the gene for E6- AP ubiquitin- protein ligase( UBE3A) identifying it as the AS gene, and tissue- specific...
MeSH term: ... by maternal 15q11- q13 or UBE3A deficiency, have phenotypic and genetic overlap with autism. These data... translocase associated with Angelman syndrome. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje...
Homo sapiens
Gene: ... High impact information on NDNL2 Expression of NDNL2, just distal to the duplicated region, was not markedly altered but paralleled changes in UBE3A expression....
MeSH term: ... , or UBE3A mutations. RESULTS: A patient with transient neonatal diabetes mellitus( TND) and macroglossia... maternally expressed transcripts were unsuccessful and because the UBE3A gene remained within a narrowed AS critical region, we searched for mutations in UBE3A in 11 AS patients without known molecular defects...
MeSH term: ... to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence... and hypotonia. Biological context of Muscle Hypotonia Mice carrying the Snrpn- Ube3a deletion on the paternal.... Psychiatry related information on Muscle Hypotonia Yet they all showed mild mental retardation, hypotonia...

 

 
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