UBE3A/E6-AP mutations cause Angelman syndrome (Q24311799)

GOA release 2020-03-11

brain development

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https://api.crossref.org/works/10.1038%2FNG0197-70

GOA release 2020-03-11

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T Kishino

1

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M Lalande

series ordinal

2

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J Wagstaff

series ordinal

3

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language of work or name

English

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publication date

January 1997

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published in

Nature Genetics

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volume

15

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issue

1

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page(s)

70-3

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7 January 2021

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Uniparental paternal disomy in Angelman's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

The critical region for Angelman syndrome lies between D15S122 and D15S113

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Parental imprinting of the mouse insulin-like growth factor II gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2.

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

The MAS proto-oncogene is not imprinted in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Promoter-specific imprinting of the human insulin-like growth factor-II gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Chromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

The Drosophila bendless gene encodes a neural protein related to ubiquitin-conjugating enzymes

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

The ubiquitin-proteasome pathway is required for processing the NF-kappa B1 precursor protein and the activation of NF-kappa B

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

1 reference

https://api.crossref.org/works/10.1038%2FNG0197-70

7 January 2021