Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. (Q48177276)

9 February 2018

title

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. (English)

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9 February 2018

Margherita Cirillo Silengo

author

5

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Angela Sparago

object named as

Angela Sparago

1

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author name string

Flavia Cerrato

2

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9 February 2018

Maria Vernucci

3

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Giovanni Battista Ferrero

4

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9 February 2018

Andrea Riccio

6

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language of work or name

English

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publication date

15 August 2004

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9 February 2018

published in

Nature Genetics

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9 February 2018

volume

36

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issue

9

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9 February 2018

page(s)

958-960

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https://scigraph.springernature.com/pub.10.1038/ng1410

exact match

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cites work

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

1 reference

7 January 2021

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

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7 January 2021

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes

1 reference

7 January 2021

DNA methylation and genomic imprinting: insights from cancer into epigenetic mechanisms

1 reference

7 January 2021

Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2.

1 reference

7 January 2021

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

1 reference

7 January 2021

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

1 reference

7 January 2021

Functional association of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitive

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7 January 2021

Maternal-specific footprints at putative CTCF sites in the H19 imprinting control region give evidence for insulator function.

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7 January 2021

CTCF maintains differential methylation at the Igf2/H19 locus

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7 January 2021

The nucleotides responsible for the direct physical contact between the chromatin insulator protein CTCF and the H19 imprinting control region manifest parent of origin-specific long-distance insulation and methylation-free domains

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7 January 2021

Role of CTCF binding sites in the Igf2/H19 imprinting control region

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7 January 2021

Methylation sequencing analysis refines the region of H19 epimutation in Wilms tumor.

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7 January 2021

Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer

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7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1410

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9 February 2018

release_co37rmty2vdqfowtoovarhnfmm

Fatcat ID

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PubMed ID

15314640

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9 February 2018