Imprinting in Angelman and Prader-Willi syndromes (Q47739224)

5 February 2018

review article

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title

Imprinting in Angelman and Prader-Willi syndromes (English)

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5 February 2018

author name string

Y Jiang

1

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5 February 2018

T F Tsai

2

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5 February 2018

J Bressler

3

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5 February 2018

A L Beaudet

4

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5 February 2018

publication date

1 June 1998

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5 February 2018

Current Opinion in Genetics & Development

published in

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5 February 2018

volume

8

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5 February 2018

issue

3

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5 February 2018

page(s)

334-342

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5 February 2018

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

1 reference

7 January 2021

Gametic imprinting in mammals

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Multiple roles for DNA methylation in gametic imprinting

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Random and imprinted monoallelic expression

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Parental imprinting and human disease

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Genomic imprinting in mammals.

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

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/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

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/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Imprint switch mechanism indicated by mutations in Prader-Willi and Angelman syndromes

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Competitive edge at the imprinted Prader-Willi/Angelman region?

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Homologous association of oppositely imprinted chromosomal domains

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

An imprinting element from the mouse H19 locus functions as a silencer in Drosophila.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Expression of necdin, an embryonal carcinoma-derived nuclear protein, in developing mouse brain

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Arrest of Cell Growth by Necdin, a Nuclear-Protein Expressed in Postmitotic Neurons

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Biochemical characterization of mouse brain necdin

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

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/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

A candidate model for Angelman syndrome in the mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

The critical region for Angelman syndrome lies between D15S122 and D15S113

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

The elusive Angelman syndrome critical region

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https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Deficiency of the beta 3 subunit of the type A gamma-aminobutyric acid receptor causes cleft palate in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

A mouse model for Prader-Willi syndrome imprinting-centre mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980091-9

7 January 2021

10.1016/S0959-437X(98)80091-9

Identifiers

DOI

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5 February 2018

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5 February 2018