(Q43807044)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

Beckwith-Wiedemann syndrome

1 reference

13

1 reference

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2 March 2020

Hidenobu Soejima

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

K Higashimoto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

K Jozaki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

T Kosho

3

1 reference

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2 March 2020

K Matsubara

4

1 reference

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2 March 2020

T Fuke

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

D Yamada

6

1 reference

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2 March 2020

H Yatsuki

7

1 reference

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2 March 2020

T Maeda

8

1 reference

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2 March 2020

Y Ohtsuka

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

K Nishioka

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

K Joh

11

1 reference

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2 March 2020

H Koseki

12

1 reference

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2 March 2020

publication date

4 December 2013

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2 March 2020

1 reference

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2 March 2020

volume

86

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2 March 2020

issue

6

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2 March 2020

page(s)

539-544

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

2 March 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

CTCF maintains differential methylation at the Igf2/H19 locus

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

21 January 2018

1 reference

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

21 January 2018

1 reference

Evidence for anticipation in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer

21 January 2018

1 reference

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12318

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24299031%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference