Imprinting in Prader-Willi and Angelman syndromes. (Q48013064)

7 February 2018

review article

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title

Imprinting in Prader-Willi and Angelman syndromes. (English)

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7 February 2018

author

Shinji Saitoh

series ordinal

2

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7 February 2018

author name string

R D Nicholls

series ordinal

1

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7 February 2018

B Horsthemke

series ordinal

3

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7 February 2018

publication date

1 May 1998

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7 February 2018

published in

Trends in Genetics

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7 February 2018

volume

14

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7 February 2018

issue

5

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7 February 2018

page(s)

194-200

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7 February 2018

Parental imprinting of genes

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

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Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

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Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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

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

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

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Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

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

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UBE3A/E6-AP mutations cause Angelman syndrome

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

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

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

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

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Ubiquitin-mediated proteolysis and male sterility

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Protein degradation or regulation: Ub the judge

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

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7 January 2021

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

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7 January 2021

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

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

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7 January 2021

X chromosome inactivation, XIST, and pursuit of the X-inactivation center

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7 January 2021

Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.

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7 January 2021

A paternal-specific methylation imprint marks the alleles of the mouse H19 gene.

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7 January 2021

Role for DNA methylation in genomic imprinting

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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

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7 January 2021

Ubiquitous expression and imprinting of Snrpn in the mouse

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7 January 2021

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

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7 January 2021

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis

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7 January 2021

Imprinted expression of the Igf2r gene depends on an intronic CpG island.

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7 January 2021

Homologous association of oppositely imprinted chromosomal domains

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7 January 2021

Allele-specific replication timing of imprinted gene regions

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7 January 2021

The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901432-2

7 January 2021

A candidate model for Angelman syndrome in the mouse.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901432-2

7 January 2021

Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2898%2901432-2

7 January 2021

Organization and sequence of the human P gene and identification of a new family of transport proteins

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7 January 2021

10.1016/S0168-9525(98)01432-2

Identifiers

DOI

1 reference

7 February 2018

PubMed ID

9613204

1 reference

7 February 2018