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UBE3A gene targeted mutation analysis:Prid:Pt:Bld:Nom:Molgen

Known as: UBE3A gène mutation trouvée [Identification] Sang ; Résultat textuel ; Biologie moléculaire, gen UBE3A :presencia o identidad:punto en el tiempo:sangre:Nominal:genética molecular, UBE3A gen mutatie analyse:Aanwezigheid of identiteit:Moment:Bloed:Nominaal:Molgen 
 
National Institutes of Health

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Highly Cited
2015
Highly Cited
2015
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness… Expand
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2015
2015
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.
Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of function of the maternal ubiquitin… Expand
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2014
2014
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome.
Angelman syndrome (AS) is caused by the loss of Ube3A, an ubiquitin ligase that commits specific proteins to proteasomal… Expand
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2013
2013
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A… Expand
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Highly Cited
2012
Highly Cited
2012
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.
The Angelman syndrome gene, UBE3A, is subject to genomic imprinting controlled by mechanisms that are only partially understood… Expand
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2011
2011
Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
BackgroundDuplication of chromosome 15q11-q13 (dup15q) accounts for approximately 3% of autism cases. Chromosome 15q11-q13… Expand
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2011
2011
Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription
We investigated the allele- and strand-specific transcriptional landscape of a megabase-wide genomic region of mouse Ube3a… Expand
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2009
2009
UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27
The UBE3A/E6-AP is known to function both as an E3 ubiquitin ligase of the ubiquitin proteasome system and as a transcriptional… Expand
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Highly Cited
2006
Highly Cited
2006
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.
We applied genetic tools available in Drosophila to identify candidate substrates of the UBE3A ubiquitin ligase, the gene… Expand
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Highly Cited
2005
Highly Cited
2005
Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region.
The mouse ortholog of the Prader-Willi/Angelman syndrome imprinted domain contains several paternal-specific transcripts and the… Expand
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