(Q36525863)

English

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

scientific article published on 30 October 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

based on heuristic

inferred from title

16

object named as

Karin Buiting

0 references

Maria Vittoria Cubellis

14

object named as

Maria Vittoria Cubellis

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

author name string

Jasmin Beygo

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Valentina Citro

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Angela Sparago

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Agostina De Crescenzo

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Flavia Cerrato

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Melanie Heitmann

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Katrin Rademacher

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Andrea Guala

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Thorsten Enklaar

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Cecilia Anichini

10

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Margherita Cirillo Silengo

11

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Notker Graf

12

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Dirk Prawitt

13

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Bernhard Horsthemke

15

1 reference

Europe PubMed Central

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14 August 2017

Andrea Riccio

17

1 reference

Europe PubMed Central

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14 August 2017

publication date

30 October 2012

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

22

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Europe PubMed Central

PMC publication ID

14 August 2017

3

1 reference

Europe PubMed Central

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14 August 2017

544-557

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

Mammalian genomic imprinting.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

Genomic imprinting: employing and avoiding epigenetic processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

Low frequency of imprinting defects in ICSI children born small for gestational age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

Cohesin mediates transcriptional insulation by CCCTC-binding factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

Mutation of a single CTCF target site within the H19 imprinting control region leads to loss of Igf2 imprinting and complex patterns of de novo methylation upon maternal inheritance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

CTCF maintains differential methylation at the Igf2/H19 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

30 September 2017

BiQ Analyzer HT: locus-specific analysis of DNA methylation by high-throughput bisulfite sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

28 June 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

21 September 2018

Genomic imprinting: the emergence of an epigenetic paradigm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

21 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

21 September 2018

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3542864

21 September 2018

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS465

21 January 2018

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS465

21 January 2018

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

1 reference

https://pubmed.ncbi.nlm.nih.gov/23118352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/23118352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23118352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23118352

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS465

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

0 references

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