(Q24610399)

ChEBI release 2020-05-28

13

Mark J Zylka

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author name string

Hsien-Sung Huang

1

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John A Allen

2

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Angela M Mabb

3

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Ian F King

4

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Jayalakshmi Miriyala

5

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Bonnie Taylor-Blake

6

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Noah Sciaky

7

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J Walter Dutton

8

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Hyeong-Min Lee

9

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Xin Chen

10

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Jian Jin

11

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Arlene S Bridges

12

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Bryan L Roth

14

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Benjamin D Philpot

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

15

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language of work or name

English

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publication date

12 January 2012

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published in

Nature

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volume

481

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issue

7380

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page(s)

185-9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Physical interaction between specific E2 and Hect E3 enzymes determines functional cooperativity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

UBE3A/E6-AP mutations cause Angelman syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

DNA topoisomerase I in the mouse central nervous system: Age and sex dependence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Stability and flexibility of epigenetic gene regulation in mammalian development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Topoisomerase I inhibitors: camptothecins and beyond

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Highly parallel SNP genotyping reveals high-resolution landscape of mono-allelic Ube3a expression associated with locus-wide antisense transcription

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Intrathecal topotecan in adult patients with neoplastic meningitis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Role of topoisomerase IIbeta in the expression of developmentally regulated genes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

The development of camptothecin analogs in childhood cancers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Modification of the hydroxy lactone ring of camptothecin: inhibition of mammalian topoisomerase I and biological activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257422

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Synthesis of New Indeno[1,2-c]isoquinolines: Cytotoxic Non-Camptothecin Topoisomerase I Inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Synthesis and Evaluation of Indenoisoquinoline Topoisomerase I Inhibitors Substituted with Nitrogen Heterocycles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

CellProfiler: free, versatile software for automated biological image analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

Spinal delivery of analgesics in experimental models of pain and analgesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

De novo neurogenesis in adult hypothalamus as a compensatory mechanism to regulate energy balance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22190039

12 December 2020

inferred from PubMed ID database lookup

Expression and assay of HECT domain ligases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22190039

12 December 2020

inferred from PubMed ID database lookup

Genome-wide analysis of expression modes and DNA methylation status at sense-antisense transcript loci in mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22190039

12 December 2020

inferred from PubMed ID database lookup

A targeted deletion upstream of Snrpn does not result in an imprinting defect

1 reference

https://api.crossref.org/works/10.1038%2FNATURE10726

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NATURE10726

1 reference

Dimensions Publication ID

1001849157

0 references

Fatcat ID

release_id4nekvjavbw3hjgtuqck4caia

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/id4nekvjavbw3hjgtuqck4caia

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

22190039

1 reference