Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. (Q52651693)

From Wikidata

Jump to navigation Jump to search

scientific article published on 4 July 2014

Language	Label	Description	Also known as
English	Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.	scientific article published on 4 July 2014

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Beckwith-Wiedemann syndrome

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Abdul Waheed Khan

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Mansur Ennuri Shmela

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kai Syin Lee

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Patrice Dehais

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Irène Netchine

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Sylvie Rossignol

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Yves Le Bouc

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Christine Gicquel

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

language of work or name

0 references

publication date

4 July 2014

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

51

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

502-511

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Epigenetic regulation of mammalian genomic imprinting

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Hormonal regulation of fetal growth

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Genomic imprinting mechanisms in embryonic and extraembryonic mouse tissues

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Genomic imprinting: parental influence on the genome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Allelic skewing of DNA methylation is widespread across the genome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Allele-specific DNA methylation in mouse strains is mainly determined by cis-acting sequences

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Allele-specific DNA methylation: beyond imprinting

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Heritable individual-specific and allele-specific chromatin signatures in humans

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

DNase I sensitivity QTLs are a major determinant of human expression variation

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Variation in transcription factor binding among humans

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Widespread site-dependent buffering of human regulatory polymorphism

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

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/10.1136%2FJMEDGENET-2014-102368

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/10.1136%2FJMEDGENET-2014-102368

21 January 2018

A comparison of bayesian methods for haplotype reconstruction from population genotype data

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

A New Statistical Method for Haplotype Reconstruction from Population Data

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Methods for detection of parent-of-origin effects in genetic studies of case-parents triads

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Transmission/disequilibrium tests using multiple tightly linked markers

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Score tests for association between traits and haplotypes when linkage phase is ambiguous

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Genetic association analysis with FAMHAP: a major program update

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Regulatory sequence analysis tools

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Genome-wide analysis distinguishes hyperglycemia regulated epigenetic signatures of primary vascular cells

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Widespread plasticity in CTCF occupancy linked to DNA methylation

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Waves of retrotransposon expansion remodel genome organization and CTCF binding in multiple mammalian lineages

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

A genome-wide map of CTCF multivalency redefines the CTCF code

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Comprehensive genome-wide protein-DNA interactions detected at single-nucleotide resolution

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

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/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

CTCF-mediated functional chromatin interactome in pluripotent cells

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Chromosome-wide analysis of parental allele-specific chromatin and DNA methylation.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102368

21 January 2018

Identifiers

10.1136/JMEDGENET-2014-102368

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24996904%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q52651693&oldid=1503104144"