(Q37010390)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

De novo mutations in the genome organizer CTCF cause intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

0 references

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Martin Oti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Heinrich Sticht

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Anita Rauch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Georgia Vasileiou

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Christiane Zweier

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

Hendrik Gerard Stunnenberg

2 March 2020

9

object named as

Hendrik G Stunnenberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Anne Gregor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Evelyn N Kouwenhoven

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Juliane Hoyer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Susanne Kjaergaard

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Steffen Uebe

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Huiqing Zhou

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Arif B Ekici

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

6 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

124-131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

Developmentally programmed 3' CpG island methylation confers tissue- and cell-type-specific transcriptional activation

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Linking disease associations with regulatory information in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

An integrated encyclopedia of DNA elements in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

The chromatin fingerprint of gene enhancer elements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

The UCSC genome browser and associated tools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Loss of maternal CTCF is associated with peri-implantation lethality of Ctcf null embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CTCF: insights into insulator function during development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Genetic and epigenetic networks in intellectual disabilities.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CTCF-mediated functional chromatin interactome in pluripotent cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Epigenetic mechanisms in cognition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CREBBP mutations in relapsed acute lymphoblastic leukaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

FIMO: scanning for occurrences of a given motif

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Differential expression analysis for sequence count data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CTCF shapes chromatin by multiple mechanisms: the impact of 20 years of CTCF research on understanding the workings of chromatin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

BEDTools: a flexible suite of utilities for comparing genomic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CTCF: master weaver of the genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

MEME SUITE: tools for motif discovery and searching

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

ChIP-seq accurately predicts tissue-specific activity of enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Genes, plasticity and mental retardation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Cohesin mediates transcriptional insulation by CCCTC-binding factor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Identification of novel functional TBP-binding sites and general factor repertoires

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CTCF, a candidate trans-acting factor for X-inactivation choice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Creating the gene ontology resource: design and implementation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Dynamic reconfiguration of long human genes during one transcription cycle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

CTCF is required for neural development and stochastic expression of clustered Pcdh genes in neurons.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

A chromatin insulator determines the nuclear localization of DNA.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710752

Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23746550

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.05.007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

release_t42v5sdb4zgnlelgzzczwz5ezq

2 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/t42v5sdb4zgnlelgzzczwz5ezq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

23746550

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23746550%20AND%20SRC:MED&resulttype=core&format=json