(Q57199288)

English

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

article published in 2014

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scholarly article

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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome (English)

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Beckwith-Wiedemann syndrome

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based on heuristic

inferred from title

Walid Abi Habib

object named as

Walid Abi Habib

1

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Caroline Michot

object named as

Caroline Michot

11

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object named as

Salah Azzi

2

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Frederic Brioude

object named as

Frédéric Brioude

3

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Stanislas Lyonnet

object named as

Stanislas Lyonnet

10

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author name string

Virginie Steunou

4

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Nathalie Thibaud

5

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Cristina Das Neves

6

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Marilyne Le Jule

7

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Sandra Chantot-Bastaraud

8

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Boris Keren

9

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Massimiliano Rossi

12

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Laurent Pasquier

13

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Christine Gicquel

14

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Sylvie Rossignol

15

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Yves Le Bouc

16

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Irène Netchine

17

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publication date

10 June 2014

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Human Molecular Genetics

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23

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21

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5763-5773

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

An enhancer deletion affects both H19 and Igf2 expression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

DNA-binding factor CTCF and long-range gene interactions in V(D)J recombination and oncogene activation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to Igf2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

A complex deoxyribonucleic acid looping configuration associated with the silencing of the maternal Igf2 allele

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Interruption of intrachromosomal looping by CCCTC binding factor decoy proteins abrogates genomic imprinting of human insulin-like growth factor II.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Loss of IGF2 imprinting is associated with abrogation of long-range intrachromosomal interactions in human cancer cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

CTCF function is modulated by neighboring DNA binding factors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Evidence for anticipation in Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Oct4/Sox2 binding sites contribute to maintaining hypomethylation of the maternal igf2/h19 imprinting control region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Sox-Oct motifs contribute to maintenance of the unmethylated H19 ICR in YAC transgenic mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

A dyad oct-binding sequence functions as a maintenance sequence for the unmethylated state within the H19/Igf2-imprinted control region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Induction of DNA demethylation depending on two sets of Sox2 and adjacent Oct3/4 binding sites (Sox-Oct motifs) within the mouse H19/insulin-like growth factor 2 (Igf2) imprinted control region

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Novel cis-regulatory function in ICR-mediated imprinted repression of H19

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann Syndromes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU290

21 January 2018

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10.1093/HMG/DDU290

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